KAT6 NEWS & STORIES
Latest updates from the KAT6 Foundation
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KAT6 Clinic Opens at Boston Children's Hospital
Major Development: A KAT6 Clinic Has Opened at Boston Children’s Hospital
We’re excited to share that a new multidisciplinary clinical program for individuals with KAT6A and KAT6B is now open at Boston Children’s Hospital, led by Dr. Olaf Bodamer and Dr. William Brucker. This clinic will serve as a true medical home for families, offering coordinated care across specialties.
The KAT6 Foundation is proud to have helped fund the development of this program, made possible through the generosity of our donors.
As the team continues organizing the clinic, families who are interested in care are encouraged to contact rarediseases@childrens.harvard.edu. This inbox is monitored several times a day, and families can expect a response within 24 to 48 hours. After reaching out, families will receive an intake form and the opportunity for a brief informal meeting to discuss expectations. Appointments for an initial evaluation are available on a regular basis with Dr. Brucker and/or Dr. Bodamer.
In addition to patient care, the clinic will gather natural history data and collect biospecimens for the IRB-approved KAT6 biorepository, which supports ongoing biomarker discovery. The clinicians will also continue collaborating with research partners such as the Serrano Lab at Boston University.
For appointments or additional details, families can reach the clinic coordinator at rarediseases@childrens.harvard.edu
300 Longwood AvenueBoston, MA 02115
Rare Should Never Mean Invisible
Eleven-year-old Christopher from Adelaide, South Australia is vibrant, funny and deeply compassionate. He is my cherished son and my constant “wingman.”
He loves video games and, most of all, animals, especially Molly, our miniature dachshund. These simple joys sustain us amidst the daily realities of living with his complex KAT6B-related disabilities.
Christopher has a rare genetic change in the KAT6B gene, meaning his body is missing a protein critical for regulating development and repair across multiple body systems. This has a significant impact on his bones, muscles, and connective tissue, affecting far more than what people can see.
Over the past year, Christopher has experienced significant regression in both his health and functional capacity due to his KAT6B-related disabilities. He has not been able to attend school since May 2025. His hospital and therapy teams continue searching for answers in a space where there is very limited research and understanding to guide them. Living with an ultra-rare condition often means facing uncertainty without a roadmap.
As his mum, my role has become one of constant learning and fierce advocacy. I have learned to trust my instincts and to speak up because parental insight matters. There have been critical moments where advocating strongly led directly to important treatment decisions. Families like ours are not just carers; we are part of the clinical picture.
Christopher’s resilience and gentle nature inspire me every single day. But inspiration alone is not enough.
We urgently need:
• Increased research into ultra-rare genetic conditions like KAT6B
• Better clinical guidelines and standards of care
• Greater awareness within medical and disability communities
We are incredibly grateful to the KAT6 Foundation, which proudly funds and supports international research by connecting families to current research studies. In a world where rare conditions can feel isolating, the Foundation provides hope, direction, and a sense of global community. Their work is vital in moving us closer to understanding, treatments, and better outcomes for children like Christopher.
Rare should never mean invisible.
On Rare Disease Day 2026, I share Christopher’s story to raise awareness for the KAT6 community because children like Christopher deserve answers, targeted therapies, and a future built on understanding, not uncertainty.
Questo è Samuele
Ciao a tutti,
Questo è Samuele. È nato il 5 aprile 2022 e, fin dai suoi primi giorni, ha riempito le nostre vite di un amore difficile da spiegare a parole.
Nei primi mesi di vita, però, qualcosa non tornava. Samuele faceva fatica a fissare e mantenere lo sguardo di mamma e papà. Erano piccoli segnali, quasi impercettibili per molti, ma non per la sua mamma, Serena, educatrice d'infanzia. Il suo sguardo esperto e il suo cuore di mamma avevano già capito che c'era qualcosa da approfondire.
Per mesi si è tenuta dentro dubbi e paure. Poi, il 9 agosto, ha trovato il coraggio di condividere tutto con il papà. Da quel momento è iniziato un percorso che ci ha portato presso l'Ospedale Bellaria di Bologna, seguiti dalla Dott.ssa Paola Visconti (Neuropsichiatria Infantile – IRCCS).
All'inizio l'ipotesi era quella di un disturbo dello spettro autistico. Ci dissero che era "uno dei più piccoli mai visti e con tratti tra i più marcati". Parole che fanno tremare le gambe.
Samuele ha iniziato prestissimo la neuropsicomotricità e la piscina, già a 9 mesi, perché presentava una forte ipotonia.
In tutto questo, la mamma non si è mai arresa. Con amore, passione ed estrema dedizione ha messo tutta se stessa in ogni esercizio, in ogni gioco trasformato in terapia, in ogni piccolo progresso conquistato giorno dopo giorno. Sempre con un obiettivo: fare un passo in più. Anche minuscolo. Ma in più.
Oggi Samuele ha quasi quattro anni. Ha buone capacità di comprensione, considerando la sindrome, e buone competenze motorie. Parla usando singoli vocaboli, detti a modo suo, ma chi lo conosce sa perfettamente cosa vuole dire. La valutazione cognitiva ha evidenziato un QI pari a 88, un dato che racconta molto più potenziale di quanto si possa immaginare.
Il 28 novembre 2025 è arrivata la diagnosi genetica: sindrome KAT6A. Una malattia rara, di quelle che ti costringono a studiare, a cercare, a confrontarti con altri genitori nel mondo, a diventare esperto per necessità.
Ma prima di qualsiasi diagnosi, prima di qualsiasi sigla, Samuele è un bambino. È un bimbo felice. Entusiasta della vita. Ama il suo cane Joy, viaggiare, sperimentare cose nuove, mangiare (da buon italiano questa è una delle sue passioni più grandi!), fa basket, continua ad andare in piscina ed è amato da tutti i suoi compagni.
Ai suoi genitori Samuele ha insegnato che le etichette non definiscono una persona. Che i tempi possono essere diversi, ma il valore è lo stesso. Che la forza non fa rumore, ma costruisce ogni giorno.
E questa è solo l'inizio della sua storia.
This is Samuele
Hi everyone,
This is Samuele. He was born on April 5th, 2022, and from his very first days he filled our lives with a kind of love that is hard to put into words.
In his first months, however, something didn't feel quite right. Samuele struggled to fix and maintain eye contact with mom and dad. They were small signs, almost imperceptible to many, but not to his mother Serena, an early childhood educator. Her trained eye and her mother's heart already knew that something needed to be explored further.
For months she kept her doubts and fears to herself. Then, on August 9th, she found the courage to share everything with his dad. From that moment on, a journey began that led us to the Bellaria Hospital in Bologna, where we were followed by Dr. Paola Visconti (Child Neuropsychiatry – IRCCS).
At first, the hypothesis was autism spectrum disorder. We were told he was "one of the youngest ever seen, and with some of the most marked traits." Words that make your legs tremble.
Samuele started neuropsychomotor therapy and swimming very early, at just 9 months old, due to significant hypotonia.
Throughout all of this, his mother never gave up. With love, passion, and extraordinary dedication, she put all of herself into every exercise, every game turned into therapy, every small achievement earned day after day. Always with one goal: to take one more step forward. Even a tiny one. But forward.
Today Samuele is almost four years old. He has good comprehension skills, considering the syndrome, and good motor abilities. He speaks using single words, pronounced in his own way, but those who know him understand perfectly what he wants to say. His cognitive evaluation showed an IQ of 88, a number that speaks of far more potential than one might imagine.
On November 28th, 2025, we received the genetic diagnosis: KAT6A syndrome. A rare condition, the kind that forces you to study, to search, to connect with other parents around the world, to become an expert out of necessity.
But before any diagnosis, before any label, Samuele is a child. He is a happy little boy. Full of enthusiasm for life. He loves his dog Joy, traveling, trying new experiences, eating (as a true Italian, this is one of his greatest passions!), he plays basketball, continues swimming, and is loved by all his classmates.
To his parents, Samuele has taught that labels do not define a person. That timelines may be different, but value is the same. That strength does not make noise — it builds, quietly, every single day.
And this is only the beginning of his story.
Fyona’s Journey with KAT6: A German Family’s Story
Our story is filled with sadness, fear, and despair, but also with a great deal of hope and love.
We are from Germany, in the state of Rhineland-Palatinate — more specifically, from the Westerwald region. We are a small family: mom (Jessica), dad (Daniel), and two children. Our “big” girl, Katelyn, just turned seven, and our little one, Fyona, is four years and six months old and will turn five in April.
From the moment she was born, I (Jessica) felt that something wasn’t right. After birth, Fyona wouldn’t breastfeed. It took hours before she finally latched. She was relatively small and light at birth, which didn’t worry me at first because Katelyn had also been small — not quite as small as Fyona, but still similar. We were allowed to go home, and that’s when the nightmare began. Whether breastfeeding or not, whether asleep or awake, Fyona constantly choked. She would gag, stop breathing, turn blue, and then vomit. Day in and day out. We went from doctor to doctor. No one could help. Everything was brushed off as if we were imagining it. We saw a pulmonologist, but he said everything looked fine.
Fyona wasn’t vaccinated until she was eight months old because she was constantly sick, but the pulmonologist said that as long as she didn’t have a fever, she should be vaccinated. So we did. At eight months, she began sitting up, and the episodes of turning blue became less frequent, but the choking, gagging, and vomiting continued. She would eat fruit purée pouches and vomit afterward as well (I suspect hunger was the only reason she tried to eat something she apparently couldn’t tolerate). She gained weight poorly, wasn’t growing, and refused both drinking and solid foods. The moment any puréed food touched her lips, she started gagging and vomiting.
We went from hospital to hospital and clinic to clinic. Again and again I heard the same thing: “Breastfeeding until age three is normal — if she’s hungry, she’ll eat.”
We had never felt so helpless and abandoned. You watch your child grow thinner and fear how long her body can handle it, all while fighting with doctors just to be taken seriously. Comments like that drove us to despair.
I tried to explain that breast milk is only calorie-rich during the first year and afterward is basically just fluid. I felt like no one was listening.
In one clinic, they diagnosed failure to thrive, developmental delay, a speech disorder, esophageal reflux, esophagitis, and constipation. Then we were sent home with tablets to dissolve, even though I sat in front of the doctor in tears explaining my fears. The only response was, “A cow doesn’t stop giving milk,” and that with enough liquid she would take the tablets. I was so shocked I could only cry. We went home, but she wouldn’t take the tablets, not even with a syringe in her mouth — everything came right back up.
Since birth she couldn’t tolerate anything touching her body. If she touched sand outside, her hands had to be cleaned immediately. Nothing was allowed on her face. Our doctor prescribed speech therapy, but didn’t think occupational therapy was necessary. We had to fight for every bit of help. We discussed a PEG tube with the doctor, but she didn’t think it was needed. After a long back and forth, we were finally told to go to the hospital for a nasogastric tube. I explained how sensitive Fyona is around her face, and they still wanted to try. Only if it failed would they consider a PEG.
We went, and they tried three times to place the tube. I have never felt so much pain and anger. I had to hold her on my lap, holding her arms while one nurse held her head and another her legs. They tried placing the tube; Fyona’s nose started bleeding and she gagged and vomited again. Then they tried the other nostril. I was tense and told them this had to be the last attempt. Same result. After that they said they would try once more with her lying down. Another nurse came. Again her head, arms, and legs were held down. After a struggle, they managed to place the tube, but she wasn’t even sitting up yet before she pulled it out again. We finally received a date for a PEG placement.
On December 24, 2023, we had to go to the hospital in the evening. She had an infection and constant fevers over 40°C, which we couldn’t control because she couldn’t take anything orally, and suppositories were extremely painful due to her constipation. At the hospital, they admitted us. She was exhausted and had a streptococcal infection. One doctor initially said we would get oral antibiotics and could go home, even though I had explained she couldn’t take anything by mouth. We were then admitted after all. She was given IV fluids and antibiotics. Later she also received Nexium and folic acid. Then they gave her iron intravenously, telling me to alert them if I noticed redness around the IV site. I did when it started turning red. They said they’d monitor it and to tell them if it increased. It got worse — she turned red all over, vomited, and became unresponsive. I cannot describe the thoughts that went through my mind. It was unbearable. She lay in my arms motionless. The doctor came quickly; they checked her oxygen level and blood pressure, disconnected her from the IV, and administered medications. Her oxygen was low, and she was put on oxygen and taken to monitoring. She slowly came back — a moment I will never forget.
She developed one infection after another: strep, RSV, and influenza. We were in the hospital from December 24, 2023, until January 18, 2024. On January 4, the PEG tube was placed. During this entire time, Katelyn wasn’t allowed to visit because we were on an infectious disease ward.
Feeding remained difficult — the vomiting continued. Later, in another clinic, her PEG was changed to a button PEG. There, they suggested that because I had struggled with an eating disorder (which I have well under control), my daughter might have one as well. No one should be made to feel such guilt.
The good part was that the doctor said, since they didn’t know what else to do, they would finally do a genetic test. I had been fighting for that test for two years — no doctor thought it was necessary.
On November 5, 2018, we received the diagnosis: Arboleda-Tham Syndrome (KAT6A).
It hit us hard, but at least the uncertainty was over and the constant hospital stays finally had an explanation.
Despite everything, Fyona is a happy child with a big heart.
We share her journey to raise awareness, give others courage, and hopefully connect with other affected families.
Because even though daily life is often difficult, it is full of love.
Thank you for taking the time to read our story.
Warm regards,
Jessica
German Version:
Unsere Geschichte ist mit viel Traurigkeit, Angst, Verzweiflung aber auch mit viel Hoffnung und Liebe zu erzählen.Wir kommen aus Deutschland/ Rheinland-Pfalz wenn mans genau nimmt aus dem Westerwald.Wir sind eine kleine Familie Mama(Jessica), Papa(Daniel) und 2 Kinder, die ,,große'' Maus heißt Katelyn und ist 7 Jahre alt geworden, die kleine Maus Fyona ist 4 Jahre und 6 Monate, wird im April 5 Jahre alt.
Unsere Geschichte etwas zusammengefasst:
Von Geburt an hatte ich (Jessica) das Gefühl, dass etwas nicht stimmt. Fyona wollte nach der Geburt nicht gestillt werden, es hat stunden gedauert bis sie sich hat stillen lassen. Sie war relativ klein und leicht bei der Geburt, dass mir zu Beginn jetzt aber keine Sorgen machte, da Katelyn auch relativ klein und leicht war, nicht ganz wie Fyona aber doch schon nah dran.
Wir durften nach Hause und da fing der Horror erst an. Ob gestillt oder nicht ob schlafend oder wach, Fyona verschluckt sich ständig, bis Ie anfing zu würgen, keine Luft mehr zu holen - blau wurde und dann erbrochen hat. Tag ein Tag aus. Wir sind von Arzt zu Arzt. Keiner konnte helfen. Es wurde alles runter gespielt als würden wir uns das alles einbilden. Wir waren beim Pneumologe aber er sagte es sei alles in Ordnung.
Fyona wurde bis zum 8. Monat nicht geimpft, da Sie ständig Infekte hatte aber der Pneumologe sagte solang sie kein Fieber hat soll sie geimpft werden. Haben wir dann auch gemacht.
Mit 8 Monaten fing sie an zu sitzen, da wurde es mit dem blau werden besser, das verschlucken, würgen und brechen blieb leider. Si2 nahm Quetschies zuvsich und erbrach dansch auch wieder (ich vermute es war der Hunger, weshalb sie eas zu sich nahm was sie anscheinend nicht konnte).
Sie nahm schlecht zu, ist nicht wirklich gewachsen, hat Trinken und Beikost komplett verweigert, sobald sie etwas Brei an den Lippen hatte fing sie an zu würgen und zu Erbrechen.
Wir sind von Krankenhaus zu Krankenhaus von Klinik zu Klinik, immer wieder habe ich nur gehört: ,,Ja bis 3 Jahre stillen sei ja normal, wenn sie Hunger hat wird sie schon essen".
So Hilflos und alleingelassen haben wir uns noch nie Gefühlt. Man muss zusehen wie sein Kind immer schmaler wird, hat Angst wie lange das gut geht und muss bei den Ärzten drum kämpfen geholfen zu bekommen. Solche Aussagen haben uns Verzweifeln lassen.
Ich habe versucht den Ärzten zu erklären, dass die Muttermilch nur das 1. Jahr kalorienreich ist, danach nur noch Flüssigkeit. Ich fühlte mich, als würde mir keiner zuhören.
In einer Klinik wurde dann die Gedeihstörung, Entwicklungsverzögerung, Sprachstörung, Ösophagealer Reflux, Ösophagitis, Obstipation festgestellt. Dann wurden wir mit Tabletten zum Auflösen nach Hause geschickt, obwohl ich weinend vor dem Arzt saß und ihm meine Ängste und Befürchtungen mitteilte.
Dann hieß es nur: ,,Eine Kuh hört auch nicht auf Milch zu geben" und mit Flüssigkeit wird sie die Tabletten schon nehmen. Ich wsr so geschockt das mir nur die Tränen gelaufen sind ich aber kein Wort mehr raus bekam.
Wir sind heim, sie nahm die Tabletten nicht auch nicht lit einer spritze im Mund, es kam immer wieder alles raus.
Ebenso konnte sie von Anfang an nichts am Körper ertragen (Wenn sie draußen in den Sand mit den Händen kam, mussten diese immer direkt sauber gemacht werden. Es durfte auch nichts ins Gesicht.)
Unsere Ärztin verschrieb uns Logopädie, aber Ergotherapie hielt sie nicht für nötig. Man kämpfte für jedes bisschen.
Wir haben mit dem Arzt über eine PEG-Anlage diskutiert, hielt sie nicht für nötig. Dann nach langem hin und her sollten wir ins Krankenhaus für eine Nasogastrale-Sonde.
Ich erklärte ihr wie empfindlich sie im Gesicht ist und dann sollte dort ein Schlauch herlaufen und festgelegt werden. Wir mussten hin und erst wenn das nicht klappt, würde sie die PEG-Sonde akzeptieren.
Wir waren da 3 mal wurde versucht die Sonde zu legen, so viel Hass und Schmerz habe ich noch nie empfunden. Ich habe Sie auf meinen Schoß genommen und sollte die Arme festhalten, eine Schwester hielt den Kopf, eine andere die Beine.
Sie versuchten die Sonde zu legen. Fyona blutete bereits aus dem Nasenloch etwas und würgte und hat sich wieder übergeben. Dann noch ein Versuch auf der anderen Seite. Ich stand schon unter Spannung und habe gesagt das ist das letzte mal.
Das selbe Spiel bei dem anderen Nasenloch.
Dann wollte sie das im Liegen versuchen, der letzte Versuch um eine PEG gewährt zu bekommen. Quälerei mehr war das nicht.
Im Liegen kam noch eine Schwester dazu. Ihr wurde der Kopf, die Arme und die Beine wieder festgehalten. Sie legte die Sonde. Nach hin und her hat es geklappt, fyona saß noch nicht und hat sie sich wieder gezogen.
Wir bekamen einen Termin für eine PEG-Anlage.
Am 24.12.2023 mussten wir abends ins Krankenhaus. Sie hatte einen Infekt und ständig über 40 Fieber was wir nicht runter bekamen, da Sie oral nichts zu sich nahm und Zäpfchen so schmerzhaft waren durch ihre Verstopfungen.
Im Krankenhaus wurden wir dann aufgenommen. Sie war exsikkiert und hatte eine Infektion mit Streptokkoken.
Dann hieß es bei dem 2. Arzt wir bekommen Antibiotikum mit und können gehen, obwohl ich vorher erklärte dass sie oral nichts zu sich nimmt. Dann wurden wir doch aufgenommen.
Sie bekam Infusionen (Flüssigkeit und Antibiotikum). Dann bekam sie im Verlauf auch Nexium und Folsäure dazu.
Dann wurde Eisen intravenös gegeben. Ich sollte mich melden wenn ich sehe dass sie rot um den Zugang wird.
Das habe ich gemacht als sie rot wurde. Dann hieß es ja wir beobachten das, ich sollte mich melden wenn es schlimmer wird.
Es wurde schlimmer. Sie wsr rot am ganzen Körper, hat sich übergeben und war nicht mehr ansprechbar.
Meine Gedanken in dem Moment möchte man keinem erzählen. So unerträglich.
Sie lag bei mir im Arm und regte sich nicht.
Die Ärztin kam direkt. Ihr wurde der Sauerstoffgehalt gemessen, der Blutdruck. Sie wurde von der Infusion abgemacht, ihr wurden Medikamente gespritzt.
Der Sauerstoffgehalt war schlecht. Sie wurde an ein Sauerstoffgerät gehangen und blieb in der Überwachung.
Sie kam langsam wieder zu sich, ein Moment den ich nie wieder vergessen werde.
Sie bekam ein Infekt nach dem anderen: Streptokkoken, RS-Virus und Influenza.
Wir waren vom 24.12.23 bis zum 18.01.24 in der Klinik. Am 04.01.24 wurde die PEG gelegt.
Eine Zeit in der uns Katelyn nicht besuchen durfte, da wir auf einer Infektionsstation lagen.
Der Anfang mit der Nahrung war auch nicht einfach, das Erbrechen hörte nicht auf.
Danach waren wir später nochmal in einer Klinik. Da wurde ihr die PEG zu einer Button-PEG gewechselt.
Da hieß es dann da ich eine Essstörung hatte (die ich gut im Griff habe) kann das meine Tochter auch haben. Solche Schuldgefühle habe ich keinem gewünscht.
Das gute war, der Arzt hat gesagt weil sie nicht mehr wussten was sie noch machen sollten machen wir noch ein Gentest.
Darum habe ich 2 Jahre gekämpft. Kein Arzt hielt es für nötig.
Am 5.11.2018 bekamen wir dann die Diagnose Arboleda-Tham-Syndrom (KAT6A).
Ein Schlag den wir nicht erwartet hatten, aber die Ungewissheit hat ein Ende und die ganzen Klinikaufenthalte auch.
Trotz allem ist Fyona ein fröhliches Kind mit einem großen Herzen.
Wir teilen Ihren Weg, um aufzuklären, anderen Mut zu machen und vielleicht ein Austausch mit betroffenen Familien zu ermöglichen.
Denn auch wenn der Alltag oft schwer ist, ist er voller Liebe.
Danke, dass Sie sich die Zeit nehmen unsere Geschichte zu lesen.
Liebe Grüße
Jessica
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Victoria: Peaceful, Musical and Always Cheerful
Our daughter was born on the 1st Februrary 2009 in Son Espases University Hospital, Palma, Mallorca.
She was a 36- week baby, very tiny for her age since it has been diagnosed with slow growth in the last months of pregnancy. She took long to be born and was immediately taken to intensive care were she spent the first 50 days of her life.
There, she was taken extreme and loving care by devoted doctors and nurses and we discovered how dedicated this job is. We took her home on Father’s Day ( 19th March), so as we took a bed sheet from hospital, as advised, it was a lovely little present.
We will always remember her regular visits for checks-ups and tests during the first year of her life. She felt such at home in every hospital visit that her face changed every time we entered the foyer and she smelt the care she had been receiving so far.
First days at home were not easy, she had to take many pills to regulate her kidneys and heart function and took a special milk in the bottle for she was allergic to the milk protein.
Little by little our little warrior took forces and started to eat bigger quantities and feel more relaxed. It took some years and a special therapy ( Votja ) to stop her screaming constantly and sleep tight, also to open her hands and relax since she suffered from muscular hypertonia and was always nervous and not connected to this world. For the first year in her life she was folded on her hips and spine as a ballerina in the shape of a ball.
She has had three operations and is waiting for a fourth one to be done on her spine since she has severe scoliosis. Although these operations have contributed enormously to a healthier life style,they have been the scariest waiting time in our lives. First operation, at 6 months, was a heart operation to close her persistent ductus. Second operation was to contribute to better vision ( she was not able to look completely from both eye sides) and third on her teeth (cavities and hygiene).
At one year and a half she went to the same private nursery school as her brother. She had a lovely time there with babies who were about 6 months younger than her. She enjoyed story telling , celebrations and nursery rhymes.
Later on she attended a special needs unit in a state nursery school and at four years entered the special needs school she goes to now. We are very pleased with the school and give thanks for her progress to all speech therapists, physiotherapists , teachers and other professionals that are on her side day by day. She feels really happy there, it takes her long to wake up every day, but by the time she gets to school she starts smiling and forgets it all.
Victoria is a loving, cuddling, cheerful girl who loves music, swimming, horse therapy. She loves her brother, her family, going out for a walk, attending or having parties, swimming, embraced dancing and being on a swing. She loves speeding especially on the motorway or when taking off). She has improved a lot in the last year and is much alert, but she is dependent 100% on an adult in every day tasks since she cannot walk or speak.
She’s being taught to feed herself, she can mount her special chair with help and switch on/off lights. At present we are focusing on walking and improving speaking. As for the first, she is not able to stand, but has the walking pattern and is eager to walk. Related to speech therapy we are using an alternative system of communication (Grid 3) with the help of an eye tracker (Tobii 4C).
She was diagnosed with KAT6A about 3 years and a half before. We do not know where she can get, but have faith in the future and, as a family, want the best for her.
She’s taught us many things such as the power of love, being patient and to be positive and smile to the future.
Mi reloj tiene un duende“Lo mismo que me sorprende que un oficinista de banco nunca se haya comido un cheque, asimismo me asombra que nunca antes de mí, a ningún otro pintor se le ocurriese pintar un reloj blando”.(Dalí sobre su cuadro ”La persistencia del Tiempo”)Hay una exagerada tendencia a creer en la ciencia, sobre todo desde que la gente comprueba que la aparatología es maravillosa. Antes te sometías a una colonoscopia en vivo y, además de la escena, estaba, aterrador e insoportable, el dolor con sus garras. Ahora te haces una siestecita y lo primero que aparece entre las brumas de la ante vigilia, es el rostro sonriente de tu médico, que ya es un amigo.Georges Braque, el pintor, decía: “La ciencia está para dar seguridad, el arte para turbar”.La ciencia, a palo seco, se convierte en una fábrica, pero de repente, aparece alguien como Steve Jobs y es como si entreviéramos la silueta de Leonardo. Entonces la ciencia despega, porque hemos añadido el genio.El físico estadounidense David Wineland y el francés Serge Haroche ganaron el Nobel de Física 2012 por “sus innovadores métodos experimentales para la medición y manipulación de sistemas cuánticos”. Su trabajo ha permitido conseguir relojes mucho más precisos y dar importantes pasos en los ordenadores del futuro.¡Aja!…eso si que le va a gustar al personal. Nos hemos pasado toda la historia de la humanidad tratando de ser los autores del cambio de su curso, o sea de manipularla.Todos imaginamos que un reloj diseñado por Wineland &Haroche, en la vida frenética que llegamos será fantástico: si te quedas sobado una mañana, y al llegar al Metro el tren ya ha partido, entonces: toque al reloj, el tiempo retrocede y tu pillas el vagón tranquilamente y encima te sientas.Aplicado a las citas es genial. Quieres seducir a es@ chic@, y en el japo de moda no hay mesa. Disimulas y ya estás bebiendo la horrible cerveza aguada que es lo peor de los Restaurantes Japoneses. Asimismo, podremos volver atrás para callar las palabras que no quisimos decir, o ver la vida desde el lado del otro (muy recomendable); conocer a los parientes que murieron antes que nosotros pudiéramos tener uso de razón; dar ese beso congelado, pedir esas disculpas que nunca llegamos a dar… Y ¡tantas cosas!.Sin llegar a eso, ni a los relojes blandos de Dalí, pura metáfora, yo estoy convencido de que en mis relojes habita un duende.El mío es siempre el mismo. Si me pongo uno u otro reloj, le obligo a cambiar de habitáculo, y es evidente que no en todos se encuentra igual, porque adapta las horas que acaban siendo mi tiempo, según le apetece. Por eso tengo días en los que los minutos en su devenir, se arrastran como pesadas sombras que recorriesen largos pasillos de mansiones victorianas. A veces, todo va muy rápido y sincopado pero en algún momento se encasquilla. Es un tiempo seco y tartamudo, de cartón y poliestireno expandidoTengo muchos relojes porque me gusta el diseño, pero ni el más caro supera los 100€. Uno de los más queridos me lo regaló ella: Victoria.Creo que lo debió hacer porque llegaba siempre tarde a sus fiestas de cumpleaños. Se trata de un reloj de sobremesa, que parece adecuado para indicarme:– ¡venga!, ¡comienza a arreglarte!La primera sorpresa es que se abre como una lata: tirando de una anilla como si fueras a merendar pâtè con pan de molde, aparece la esfera convencional de un reloj vintage. Luego resulta, que además es imantable, o sea que se adhiere a superficies metálicas para que puedas llevártelo y fijarlo.No sé si serán imaginaciones mías, pero es el favorito de mi duende. Creo que es donde hace la siesta cuando yo la hago, y duerme en las horas de mis sueños…Con este reloj, los días se deslizan como cucharadas de miel en una primavera fría. Las horas caen como pétalos de flor de almendro; los minutos como copos de avena; y los segundos como gotas de lluvia breve, un perfume inventado por mi abuela al que llamaba “Lágrimas de Abril”.De noche ese reloj hace ruiditos como si el duende se levantara a comer rosquillas de anís, a hacer pis, o a mirar si duermo. Pero ahora el que no duerme soy yo, que miro si el duende da señales de vida y…no sé… miro si tiende la colada o sale a fumar a las 3, sentado en la manecilla pequeña, o cosas así.De repente, las manecillas, entonan un tic tac tic tac que se asemeja a una carrerilla que viniera de lejos. En ocasiones, ese ruidito rítmico, va “in crecendo”. No es mi duende porque él es discreto y silencioso; pero como Victoria asiste a clases de hípica, pienso si vendrá ella a verme, al trote de su querido caballo, y me pegunto si llegará, de carnaval, gitana de sol y luna con la bata de cola, con alegría de cascabeles en las crines de su montura, y de lunares rojos en sus zapatos de baile, que llevan prendido con zambra, el taconeo embrujado del flamenco.Taca,tacataca ¡tac!.Jaime Roig de Diego
1-2-3 Go Camo!
Camden’s journey began twenty-four weeks before taking his first breath of fresh air. After a long family move from Kentucky to Washington State, it was brought to our attention during an ultrasound that Camden had a congenital heart defect known as Tetralogy of Fallot. We knew that within months Camden would need to have open heart surgery to correct the defect. Our family had no idea that this would only be the tip of the iceberg for years to come.
Camden Rau was born on February 9, 2015 via emergency C-section at Madigan Army Medical Center. Immediately after birth, he was sent directly to the NICU. When I followed Camden’s medical entourage into the NICU, I noticed something very strange. Camden’s head was extremely tall and elongated while having a very obvious skeletal deformity from his forehead to the back of his head. It was determined that he had craniosynostosis, which is the premature fusing of the bones in the skull. With these two serious issues identified, the Geneticist told us there was a very good possibly Camden had a genetic disorder, but it was too early to tell which one based on symptoms alone. So we waited.
One month later, Camden had his first open heart surgery at Seattle Children’s Hospital. He had a very rough recovery and spent approximately five weeks in the Cardiac ICU. Once he recovered, doctors then began to focus on Camden’s other issues. With sights set on a very evasive skull surgery, doctors agreed that Camden needed a G-Tube to eat because he was failing to consume enough calories by mouth. They also determined he would need to have another heart surgery to close a hole before the craniosynostosis repair to reduce the risk of brain damage and stroke. At nine months old, Camden finally underwent a full craniosynostosis repair from ear to ear to fix the shape of his skull and allow his brain to grow appropriately. After the skull repair, Camden’s blood oxygen levels could not stabilize and he required oxygen until he was approximately eighteen months old. We continued to wait and search for answers.
After the surgery, our family moved once again to Cleveland, Ohio. Camden was almost two. He underwent two eye surgeries in Cleveland to fix his droopy left eyelid to prevent him from going blind. We are extremely grateful that we moved to Cleveland for that short time because that is where we were able to conduct our genetic testing. While waiting for the results, the Army relocated our family to San Antonio to receive more efficient health care for Camden. During the move from Cleveland to San Antonio, we found out that Camden had the KAT6A Genetic Disorder. Our search for the cause was over, but what were we supposed to do now? There was very little research and doctors told us very little because they didn’t know anything about it. It’s at that point we were able to connect on the KAT6A support group on Facebook to get some answers.
This was such a relief to finally understand what issue has caused our son to experience all of these conditions, surgeries, pain, and suffering. Finally! Some kind of proof to show doctors who made us feel like terrible parents by saying our son was failing to thrive, accusing us of not feeding him enough, and constantly bringing up the percentile chart for height and weight to emphasize we are not doing our job. It explains why our son has never spoken a word and why there is a good chance he never will. It explains why he has so many physical issues. It explains the cognitive delays. It explains the brain damage. It explains why he is so tiny. It explains the constipation. It explains the poor muscle tone. It explains everything.
Just because we have come to terms with reality and have some answers does not mean we have given up hope. Camden is the definition of resiliency; bouncing back from everything life has thrown his way. Every day we wake up thinking this might be the day he says a word, or the day he can finally eat a normal meal, or that he will somehow overcome a physical obstacle he’s been dealt.
Camden has been the biggest blessing in our lives, and he has touched the lives of so many without even saying a word. He teaches us to be patient, loving, and selfless. He lights up every room that he is in with his amazing smile, caring nature, and his personality. He loves his mom, dad, big brother, and dogs. He has to emulate everything his big brother does, and then some. He loves sports, balls, trucks, cars, hitting keys on the piano, and watching the whales and fish at Sea World. He walks on his own, but he requires ankle braces to stabilize. He loves to jump on trampolines. He utilizes speech therapy, physical therapy, and occupational therapy each week to help overcome his deficiencies. He does communicate vaguely by pointing and using basic sign language skills, and he eats strictly through a feeding tube.
Recently this past week, Camden was forced to undergo yet another open heart surgery to receive a Pulmonary Artery Valve replacement. This surgery was supposed to happen in his late teens or early twenties, but his right ventricle was four times the normal size and the valve was leaking forty percent of blood being pumped to his lungs. Unfortunately, this will not be his last open heart surgery. The valve replacement typically only lasts two to ten years, but we will always expect the worst and hope for the best. He also had to undergo another operation today because his surgical site was infected, but we are looking to leave the hospital within a week or two.
Thank you for taking the time to read about my son.
We are honored to be Camden’s parents and very proud of everything he has accomplished so far in such a short amount of time.
We are happy to be a part of the KAT6A family.
Warren's Story
Mothers Day 2018.
33 years ago I was about to give birth to my first child, who ended up being born on Memorial Day, 1985. I originally went into labor two days earlier, but a trip to the hospital with irregular contractions resulted in returning home “to wait” Two days later, still no regular contractions, almost two weeks overdue and exhausted, it was decided to induce. I thought at that time parenthood would be the easiest job I ever had. First mistaken notion.
“Warren” came out after a difficult delivery, very depressed. His first Apgar was a 6, but his second a 9. They rushed him off to the nursery and had the neonatologist follow his care. He was “floppy”, had a huge startle reflex, was very sensitive to touch, would nurse for a few minutes and then fall asleep, but after 3 days they released him as an “essentially healthy infant”. I thought everything was fine. Second mistaken notion.
He was a challenging baby. He never, ever slept more than two hours at a time. Never nursed well, we had to supplement after a week when he continued to lose weight after coming home. He had terrible reflux, would spit up through his nose; he was slow with motor development. The startle reflex continued. If I walked from a dark room to a lit one with him, his whole body reacted. Still, he was sweet natured (still is) and was gaining weight and at 3 months the doctor said he was doing great.
Then he had his first DPT shot. That night his fever hit 105. He laid on my chest for three days and hardly moved. At my pediatrician’s insistence he never received any part of the “pertussis” vaccine again (actually none of my children did). I don’t think the vaccine caused any of his disabilities – but maybe opened a door to let what was lurking there in a bit sooner, and more strongly. This is just my opinion, and most professionals will tell me I’m crazy, but they weren’t there.
When Warren wasn’t walking by 18 months, and barely crawling, we started our first round of visits to Children’s Hospitals. There I was told – and I swear to God this is the truth – “You definitely want to go through genetics because you wouldn’t want to produce another one like this” and at the next visit – “don’t fret, I have parents of gifted and talented children who don’t know how to raise them either”. Third mistaken notion – the experts know best.
We received the diagnosis of “developmental delay” – Fourth mistaken notion – that delay meant late, but just like an airplane it would get where it needs to go eventually. I did not know it was a euphemism for “we don’t know what is wrong with the child, but things don’t look good, and might never”.
Years go by – we run all the tests, nothing comes back with a reason for the “delay”. We end up with a diagnosis of autism at age three and the pronouncement by many experts that this would never happen again….and so my daughter was born. She was the complete opposite of her brother, walked at 9 months, had words at a year (Warren has never spoken one word to this day). All the doctors and friends assured me she would be fine. And so her two brothers followed. And then she started getting “weird” – perseverating on objects and actions, single words never turned into sentences. At age 4 she also joined the ranks of special education. Side bar here – Emily has been diagnosed with what is very clearly autism – and manifests some bipolar tendencies, but does not have KAT6A – which surprised the doctors. Her brothers are neurotypical and doing well.
Warren learned to walk, for awhile he was successful with limited sign language, but his fine motor skills have always been very poor. I was the only one who understood his signs and they were limited. After two years on baby food he started eating solid food, but to this day, refuses anything highly textured. His weight, even now, is a concern. At 5’8” he has never been heavier than 158, and now is 143 pounds.
Over the years there have been a number of medical problems – he developed aerophaghia – air swallowing. There is no treatment and it can be fatal. But thanks to some wonderful therapists and doctors we got this under control. His motor skills led to a diagnosis of mild CP. He never outgrew his strabismus. But he enjoyed school, became somewhat independent, but the combination of his disabilities meant he could never master his personal care skills independently. He still has toileting accidents occasionally, needs to be fed, dressed, bathed, but he does cooperate and assist with all of these, and he is ambulatory. On the surface, judging by his skills, Warren would seem to be very cognitively impaired. But there have been some things he has demonstrated that clearly indicates his understanding of things is far higher than appears.
And then at age 9 the seizures started. Nothing helped. They were called partial complex seizures and he did not convulse, but it was more than just the staring of absence seizures. Eventually, a brave neurologist tried a new medication that had just been approved in the US, but had been used in Britain for awhile – Lamictal. That, with Topomax, stopped the seizures for several years. But, they did come back, and this time as grand mal seizures. We have tried every combination of medications, and we went through periods of calm, only to have them come back in clusters. Last fall he had a Vagus Nerve Implant, which was a very difficult adjustment, but now seems to be helping. One seizure since January.
We raised all our children at home – under circumstances at times that were harder than anything you can imagine. My daughter’s autism manifested itself with aggression and violence at times, but with the help of incredible staff, and wrap around services, our family stayed in tact.
I had wanted Exome testing done since the first time I heard about it. I wanted to know why this happened to us, and was sure there would be a diagnosis that applied to both Warren and Emily. However, my insurance would not cover it and it was impossible for us to afford. I had applied for the Autism Speaks credit card and charged everything I could so that they would receive 5%. One day I received a phone call that they were sponsoring an Exome study at NIH (around the corner from me) and we would be able to get the Exome testing for free – was I interested? Of course I was. Sign us up! And then they said, if Emily and Warren could not give “informed consent” then they were not candidates.
Mistaken notion 5 – I thought we were all in this together. Bless my dear friend who works for a genetics company who was able to arrange for our family to have the sequencing done for what the insurance would cover. When the results showed that Warren had KAT6A, but Emily did not, it was a blow. Things were just getting rolling with KAT6A and Warren was, and I think still is, the oldest person diagnosed. Many became interested and asked to use him in studies and publications and we readily agreed. Here was one answer as to why this happened, and it wasn’t hereditary, and it wasn’t caused by something I did. All good news.
Over the years I can’t begin to tell you the things my husband and I tried to “find the cure” – some ridiculous, most expensive, all bringing marginal change. Warren to this day is a lovely young man who loves music, movies and pretty girls, but he requires a lot of help. I was warned that other KAT6A families might seek me out to know what the future of their young children would hold. I know what it is like to think that if you keep trying, one day you will find the answer to what will help your child. I have been fearful that if I revealed the extent of Warren’s limitations it would not be welcome information to these families. I have purposely stayed in the background.
But that doesn’t mean I’ve turned my back on things. I confounded a nationwide organization called KEEN (Kids Enjoy Exercise Now) that provides free recreational opportunities to children with severe disabilities. I have served on Boards and Commissions serving the disability community at my county and state level for 20 years. I initiated and chair a Developmental Disability Advisory Committee. My work at this point is devoted to improving the quality of life for the developmentally disabled.
Three years ago Warren and his sister moved into residential settings. They live in side-by-side townhouses ten minutes from our house. They have roommates and round the clock staff. They work and play in their community and we see them every weekend. It is a pretty good life for them, and at age 63 and 71, a blessing for my husband and me to know they will be cared for when we are gone.
But three years ago Warren had a bad fall, broke his femur, and after two months of recovery, had a seizure and another fracture. Now it seems this might be related to the KAT6A – but it also could be the epilepsy drugs he has been on so long. Who knows, but once again, we are trying to see if there is something else we need to do to help him. Thus, this blog, and emails to Dr. Kelley.
When I was asked to write this, I asked what should I write about – I was told tell us about birth on. I know I have given you more than you ever wanted to know, but once I started, I couldn’t stop. I wish you all the happiest of Mother’s Days. Your children are very lucky to have you.
Morning at My House
Sam inspired me to send you a description of his typical morning, in what I imagine would be his own words. I would call it…
MORNING AT MY HOUSE, BY SAM WOODBURY
Here he comes again, this time at an hour past midnight — Dad-with-flashlight. I coughed and the monitor picked it up. That woke him and alarmed him. In the darkness he just bounced off the corner of a table in my room and now he peers at my face. I pretend to be asleep. He stares at me for a second or two longer and then, satisfied, he turns to leave. He turns off the flashlight and trips on the chair at the foot of my bed, grunts, and then he’s gone.
Now it’s 4:30 a.m. and I’m wide awake. A couple of hours to kill before they usually wake up. Let’s see whether I can knock the TV over with a flying pillow — nope. I guess I’ll sit up and slam the Venetian blind against the window frame over my bed. I like the rhythmic Whack! — Whack! — Whack! as it slams back against the window.
Oooh, Mom has her morning face on! She shuffles in and mumbles something about 5:00 a.m. They think I don’t understand time. I understand that it’s never a good time for things I do that make a lot of noise or cause an unexpected load of laundry.
Well, now I’m on the toilet, my walker before me to keep me steady. They — that Mom-and-Dad pair — had a good idea a while back. I need time on the toilet to get my system moving, lots of time. (Do I understand time or don’t I?) But I used to get bored, and then I’d twirl my walker like a dance partner and dent the wall, or I’d twirl the roll of paper and make an impressive pile of softness on the floor. So that Mom-and-Dad pair bought a TV and mounted it on the wall in front of my toilet. Since it arrived, I get to watch Shaun the Sheep, Masha and the Bear, and other stuff they think I’ll like. I can’t speak words, so I can’t ask for SpongeBob directly. At least the TV relieves the boredom of the toilet.
Dad’s turn now in the morning routine. In greeting, he squeezes the top of my head with a large hand. I like that. I try to hug him but he makes me wait until I’m off the toilet. Once I’m up and partly dressed he squeezes me hard and I hug him harder. Then we’re off to deposit me in my recliner chair next to my bed.
I have this secret wish that they’ll both forget the toothbrush today. Mom forgets a lot but Dad usually remembers. Here it comes…! Aaaghhh — kewww — gaaaack!! Mow my mouff if full off faliva and I can’t fwallow!
Well, I do fwallow a trickle of it after a while but I hate it. What is that for, anyway? Next comes breakfast — hooray! I pull up my shirt to expose my G-tube. It’s always the same old gooey slurry that gets poured into the tube, with glops of additives, then portions of what they call “meds” followed by slops of water — (will these people ever come fully awake?) — and now I can relax and watch excruciatingly boring ads for Nutri-System and Humana on the big TV across from my chair.
Mom is sitting at the table in my room now, scribbling in her book — a big binder. She snaps it open and closed, open and closed. She scrawls in tiny boxes on lots of pages. I judge my timing and then I sneeze, just to jump her, and I spray my mouthful of foamy saliva. I can tell she’s impressed by the speed of her response, and I grin inwardly as she goes into action to save the folded clothes in the laundry basket in front of me.
Dad comes back with his plate of toast, meets my high-five, and sits on my unmade bed. I high-five at him again and again so he can’t eat. He calls me Buster Keaton. I know my name; it’s Sam. Maybe “Buster Keaton” means “I forgot your name.”
After toast he walks me to my shower. When Dad does the shower he sings his two favorite songs: Old Man River and Ghost Riders in the Sky. He also likes Cool Water and The Windmills of Your Mind. That last one really describes my mind, but I can’t tell him, so I try to hug him. He doesn’t want a wet hug. I guess these are also my favorite songs, because no one ever sings me any other ones. But you’d think he’d learn something else.
Usually it’s Mom who does the next set of rituals. She sprays my armpits with Holy Odor, makes precise designs in my hair with incantations, and then smears gel on my face and scrapes it off. I don’t know what this all does for them, from the tooth brushing to the face routine, but they can’t live without it. (The feeding I understand because it feels good to me. The rest makes them happy, so I don’t resist. It’s loving, and I get a lot of attention, and I get to slap the water in the sink while mom drives her toy snowmobile or whatever it is around on my face.) Finally someone pulls clothes over me and I can sit down again. Let the day begin!
MY WORLD BY SAM
After my morning rituals, Adria comes in the daytime and hangs out with me. I realize it’s her job, so I try to brighten her day. We go places together, but almost every day she stays home with me for a while and makes me work, work, work. Adria makes me walk a lot. Walking frightens me, and I say so; that is, I groan my loudest when I’m supposed to be walking. She puts a “weight vest” on me and then walks me in circles in my room. I hold onto my walker, wearing that eight-pound vest, and shuffle slowly in a circle. I think: “Does this entertain you? How about you wear this vest and march around for me?”
A couple of times, when I’ve been on my feet, the floor has suddenly come up from behind and smacked me in the back. I have broken my ribs and had a lot of bruises. Since that happened, Adria or Mom or Dad walks behind me with a hand on my back. Dad says: “Go ahead, try to fall. I won’t let you fall.” They have all caught me at one time or another, so I know I’m safe. If someone isn’t right behind me when I’m standing, I just kneel at my walker, then sit and wait.
I fall because I’m a “Jumping Frenchman of Maine.” You can look that one up. My mom’s French Canadian grandmother ran sporting camps in Greenville, Maine. That’s where “jumping Frenchman” syndrome apparently originated. It is related to hyperekplexia, but don’t ask me to spell that. Either way, it’s an exaggerated startle reflex. Surprise one of my senses with a sudden change and I jump out of my skin, as my mom says. All it takes is a flash of light, a sudden movement off to my side, a ‘pop’ sound from another room, or an unexpected touch, and I throw out my arms and legs. Gravity decides what happens next. It is no fun.
About this walking thing. When people come up to me on their own two feet, I think: How do they do that? I could use about four more legs — or maybe not — where would I put them all when I’m in the car, or in bed? How would I put on my pants?
Adria also takes me all over the place in her Ram 2500 monster truck. I can step up into her pickup, or Dad’s truck too, by myself if I can hold onto someone’s shoulder so I won’t fall. Then Adria and I go to my meeting or to my job. On Mondays there is a SUFU meeting — Speaking Up For Us. Since I can’t speak, the president sometimes passes me the gavel so I can pound the table.
I take my job seriously. Two days a week I ‘m the Social Director at Meals-for-Me at lunchtime. Since I’m 100% tube-fed on a liquid diet, nobody is worried that I’ll eat all the cookies or take the last piece of meatloaf. My job is to sit beside one of the old ladies, a different one each time, (they take turns), and hold her hand. They tell me I’m handsome and give me hugs. Old ladies are fluffy, and so I like their hugs.
I have a friend, Curtis, who lives in town — a tall, happy fellow, and Adria sometimes takes me there. I usually see Penny when I’m there, Cleo too, and he has other friends who gather at his place, too. Some days we go to McDonald’s for lunch, or to the town beach for a picnic in the summertime. I am lucky to live in Lincoln, Maine, a small town where almost everyone knows me and is my friend.
When I’m outdoors walking, or in a big store like Walmart or Marden’s, I usually enjoy myself and “hoot it up” as people say. They can try to shush me, but I can’t curb my enthusiasm. Our town is built on the shore of a lake, and there is a park beside the lake, with a playground and a beach. When we go there, or to a basketball game or a track meet, I can hoot a lot and no one cares. That is great!
When I come home after a long day of walking and hooting and hugging, I just like to curl up in my big recliner chair and see what’s going on in the house.
I have been part of a family for as long as I can remember. Same Mom and Dad. Sisters who have always been around, although I see them less often since they grew up. Other people come for a time and then leave. I miss them. Before Adria, there was Tonya, for instance. When I see someone after a long time, who used to be part of my world, I get excited. I give them good hugs.
I’m still surrounded by sisters, though. At least four of them. They’re definitely adults now. Most of them used to be older than I am, but I’m 27 now and maybe I’m catching up. I don’t know how long it takes to become an adult, but I’m waiting to see. Then again, maybe only some people get to be adults and maybe some of us have a different role to play.
I’m also surrounded by nieces — and one lone nephew, Carter. Just when I think I know everyone in the family, one of my sisters brings in a new baby. They don’t stay babies for long, though. Some of those babies can already walk and, wow, can they talk! Maybe that’s a girl thing. I don’t walk well and I don’t talk yet either. Maybe that’s a guy thing. How do I ask Dad or Carter about that? Dad’s clumsy so maybe he’s still learning to walk, and he doesn’t talk much, but he can when he has to.
My family’s house is always busy. Besides Adria and my sisters and nieces coming and going, there’s my grandfather who lives here, and there are dogs. There used to be two little pugs. Then one dog went to be cremated and I haven’t seen him since. (If they ever offer me a trip to be cremated, I think I’ll turn it down.) After that, there was one little black pug, who has a hard time moving and who coughs all the time. Then, this spring, a new black dog suddenly joined the family. About two months ago she was the size of the old pug. Now she is as big as one of the deer in our back yard.
And that’s the story about the inhabitants of my world. It’s a great bunch of friends and a big, happy family.
Ruby, On My Mind
Ruby has been on my mind a lot lately. I mean, she’s always climbing on top of me, standing on my feet, yelling and crying, so it’s hard to NOT have her on my mind. It’s her diagnosis and everything that we’ve been through, the emotions, and the ability to keep my head out of the water through it all.
When it was first suggested to me that Ruby might have a chromosomal abnormality, I looked at her differently. Suddenly I could see her ears in just the wrong position, her eyes spaced just a little off, her nose just barely broader than normal. It clicked so suddenly that I was sure that genetics was where we’d find the answer. As she continued to grow physically, but not developmentally, I was even more sure that genetics was it.
One of the most frustrating things that I have experienced in this journey is doubt from outside sources. I knew that Ruby wasn’t a typical child. Not only did I have 3 other kids that I had experience raising to compare her to, but I lived with her and knew that she did things different. Not just different in the sense that all kids are different from each other and develop differently from each other, but Ruby was significantly unusual. When I would open up about my fears to people, they would tell me not to worry, because so-and-so’s child didn’t talk until this age, or this other so-an-so’s child didn’t walk until this age…”I’m sure she’s just fine, those doctors never know what they’re talking about.” This was a common occurrence for a while. I completely understand other parents trying to encourage, but when you actually live with a special needs child and see all of their deficiencies and experience their struggles, have seen a multitude of professionals that second the opinion, and then have someone outside of the situation tell you that everything you’re feeling is wrong… That’s not ok.
The first genetics testing that was performed came back normal. My first feeling was relief. My second and more profound feeling was angry despair. I knew there was something. Our geneticist did too thankfully, and pushed forward for the next test. We expected to go through the holidays (Thanksgiving, Christmas and New Years) without hearing anything, so when the phone rang in the middle of December, I was shocked and unprepared. He told me Ruby had a mutation in the KAT6A protein. We scheduled a time 2 days later to meet and discuss everything, but he asked if I had any questions in the meantime. I answered no, because I wanted to brainstorm questions with Daddypants to make sure we get everything covered. I then hung the phone up and asked Dr. Google.
Everyone knows that you should never consult Dr. Google. I once asked him about Ruby’s symptoms before we had any answers and I immediately regretted it. This time we had a specific diagnosis to look up, and I found that there was (and still is) very little literature regarding KAT6A. One information page that I found was hard for my heart to read. Almost every piece of information that was listed described Ruby. The hardest part was the fact that most KAT6A individuals struggle with sleep. The reason this was a struggle was because of the nearly 3 years of little sleep Ruby and I had experienced together. More so, the frustration that I had felt and the times that I was so angry I felt useless. The days that I felt resentment because I was so exhausted. Feeling resentment toward a child is a very guilt-riddled feeling. But learning that her sleep problems are due to her genetic makeup, something that she has absolutely no control over, and knowing the behavior I had had, broke my heart. I sobbed as I read it.
I also saw that oral motor deficiencies are common, as well as speech problems that include nonverbal individuals. Ruby doesn’t speak. We don’t know if she ever will. I know I’ve said it before, and I’ll say it again, but having a child that you love with your whole being, and knowing that they may never say “mama” or “I love you” is a really hard pill to swallow.
Today has been an emotionally challenging day for me. Tomorrow is my sweet girl’s birthday. I have 3 friends who all had babies within 10 days of Ruby’s birth, and the differences become distinctly more significant each year between them and her, which is often hard.
Tomorrow after breakfast I’ll get her dressed and take her to school for the very first time. She’ll be in a class that is a mixture of typical kiddos and those with special needs. I’m anxious to leave her in someone else’s care, but I’m also excited for the break. Almost 3 hours that I can clean, run errands, bond with Murphy, make uninterrupted phone calls! Ruby has spent much of her time today yelling and crying. She’ll be playing happily one minute and then suddenly just yelling because she’s unhappy about something, but I don’t know what, and she doesn’t know how to tell me. I feel so much frustration because my ears are ringing from all the yelling, and so much sadness because I don’t know what she needs, and so much guilt because I put Murphy down so often to try to tend to Ruby. Murphy is the happiest baby ever and mostly doesn’t mind, but it doesn’t stop the feelings of guilt from rolling in. It’s so challenging when I need to make phone calls but I know that Ruby will not be happy once I’m on the phone.
Most days I feel motivated and passionate and ready to take on KAT6A and prove that Ruby is awesome and able to prevail! Other days, like today, I have to remind myself that it’s ok to feel sad and have a little despair and anger. It’s ok to feel like I’m not good enough or not doing a good job, because deep down I know it’s a lie and that I’m a damn good mom to Ruby and all of her siblings.
I also have to remind myself that it’s definitely ok to brew a second pot of coffee for the 10th day in a row. Here’s to cup number 5 for the day (or is it 6?)!
You can read more by Emily on her personal blog. Emilyhoffhines.wordpress.com
Dr. Arboleda's KAT6A Research
KAT6A Families,On March 1, 2018, Dr. Francis Collins, the Director of the National Institutes of Health (NIH) dedicated his blog posting to Dr. Valerie Arboleda’s research on KAT6A. This blog post provides great visibility for our community and the KAT6A Foundation, and is a very good summary of her research plan. https://directorsblog.nih.gov/…/creative-minds-looking-fo…/…
I also wanted to recognize and thank all of the families who supported the Children’s National Race For Every Child over the past several years. It was funds you raised for those events that supported her initial research. This research provided the early findings that helped her win the NIH grant that will help sustain this research going forward. So congratulations to all of you for helping further KAT6A research. And thank you for your continued support of our new KAT6A Foundation as we continue to raise funds to support future research.
Jordan Muller
Chairperson of the KAT6A Foundation
Personal Stories
Lilly Meets a Golf Legend, Jack Nicklaus
Our family was honored to be invited as special guests to the Creighton Farms Invitational Golf Tournament in August 2019. Barbara Nicklaus, the wife of golf great Jack Nicklaus spoke about the Genomics Program at Nicklaus Children’s in Miami, which is technology that truly changes lives. We know because it changed ours dramatically.
Lilly is the sixth child of seven. Since birth, Lilly has been the sweetest, happiest baby. However, over time, she remained a baby. She didn’t hit her milestones physically or developmentally. We sought help from our pediatrician and specialists, we had a couple different types of genetic testing, but it gave us no insight into what was going on in our precious little girl.
As parents, we have a pretty big job. It’s our duty to nourish, nurture, instruct, love, and care for our children as they grow. We feel deeply responsible for these little ones entrusted to our care and our greatest desire is for them to be healthy, happy, and loved. As many of you know, when your child isn’t growing and developing, you start to panic because you know that could be a sign, a symptom of a bigger problem that could adversely affect their future. You start to seek answers from experts, from doctors, counselors, other parents, google every symptom. And when you don’t find anything that matches your situation it gets really frustrating. When a genetic counselor shakes her head and calls your child a “head scratcher”, your heart drops. There are days when you feel helpless, hopeless, and believe no one is ever going to figure out what is wrong with your precious child.
Then, the next day you get up and you start again. Because as a parent, you never give up on your child. You never stop advocating and working towards finding the right answers to give them the best life you can.
That’s where Nicklaus Children’s came into our story. Through their collaboration with RADY San Diego, they were able to give us the answers we couldn’t find anywhere else via whole genome sequencing. The relief of having a diagnosis of KAT6A, of seeing that list of characteristics that read like a checklist of Lilly’s symptoms is not easily described.
Still, once the relief of having the answers wanes, there are other emotions. There’s fear, sadness, and grieving. However, the information is invaluable as it has given us new avenues to seek assistance that weren’t open to us without a diagnosis.
Because of our involvement with The Nicklaus Children’s Health Care Foundation, Lilly was featured on the cover of their 2019/2020 issue of Fore the Children. We are honored that she was chosen to represent the thousands of children that the Foundation helps.
We are also privileged to be included as a part of the KAT6A Foundation, a group that works together, shares experiences and treatments, and truly cares about each and every person effected by KAT6A. Every milestone, every accomplishment, every discovery is celebrated not just by the individual, but by the group. And that’s what makes us all family.
Written by Christy
Bruno
Bruno’s journey began in 2019. From his birth on October 11th, 2017 we already knew that something was happening but we didn’t have a final diagnosis until February 21st, 2019.
Even though the pregnancy was normal, when I was 37 weeks pregnant Bruno hadn’t turned yet. He was going to be born breech and my gynecologist convinced me to let them turn him around in my uterus to avoid a C-section. I agreed and when I was 40 weeks pregnant my labor was induced since Bruno’s heart wasn’t beating as well as doctors had hoped.
My labor was amazing and in only four hours I had my baby in my arms. I still cry when I think about that tiny beautiful face.
From there on things began to happen. Forty eight hours later we left the hospital without being able to get Bruno to breastfeed or take a bottle. He was fed 10 ml of formula with a syringe, and was diagnosed with hypotony cervical-axial and micrognathia.
From that moment on, everything has been agonizing. At only fifteen weeks he had a stomach protector and they changed his formula to a special milk without proteins from cow’s milk. It turned out he was lactose intolerant and he had almost got intestinal ulcers. Because of all of his stomach problems he wasn’t even gaining 50gr and we weren’t able to stabilize his weight in any way.
He spent every night crying and we cried with him. When we were able to correct his dose of medication from his stomach he started gaining weight. However, he was already 4 months behind in growth and we began to notice that he wasn’t doing many things that corresponded to his age as far as psychomotor movements. All of this, combined with an atrial septal defect in one of his many check-ups, sounded the alarm when he was only 6 months old. He already had a heart diagnosis, an appointment with the geneticist, check-ups with infant digestive specialists, and he had started with physical therapy and child psychology.
It all continued to develop and the operations started to become the new normal; heart surgery, tear duct opening, a possible knot if his esophagus. It was a nightmare that never ended and every time we went to the pediatrician it was something new.
Finally we received the feared but long awaited diagnosis; KAT6A syndrome. Although we thought that a diagnosis would give us encouragement, it was the total opposite. It erased all the hopes that we had that one day Bruno would lead a normal life. We forgot about all of the strides that he had made in the last 16 months and we thought that we would never be happy again.
At first the doctors only had bad news for us, saying that he would never be able to speak or walk because he had a severe handicap. However, little by little we have seen that with therapy and effort, great things can be achieved and we began to see the light again.
Bruno is currently going to physical therapy, a psychologist, speech therapy, and special therapeutic classes at the swimming pool and at the equestrian center with horses. He can walk and although he doesn’t speak he can make sounds and pronounce some syllables. He communicates in his own way despite his disabilities and above all, and most importantly, he is HAPPY.
On our journey we found the KAT6A Foundation on Facebook and through this group we have connected with other families in Spain. We also found the ‘Asociación KAT6A y Amigos’ which has helped us immeasurably to overcome every obstacle and has guided us to help Bruno progress as much as possible.
Thank you to all of you and to our medical team who have made something which once seemed so complicated, much easier for us now.
By Veronica
Spanish Translation:
Bruno comenzó su viaje en 2019. Desde su nacimiento el 11-10-2017, nosotros ya sabíamos que algo ocurría, pero no tuvimos un diagnóstico definitivo hasta el 21-02-2019.
Aunque el embarazo fue normal, cuando estaba de 37 semanas Bruno no se había dado la vuelta, venía de nalgas y mi ginecóloga me convenció para que les dejase darle la vuelta en el útero y evitar la cesárea. Me presté a ello y cuando cumplí las cuarenta semanas me provocaron el parto porque el corazón de Bruno no latía todo lo bien que ellos querían.
Tuve un parto buenísimo y en apenas cuatro horas tenía a mi pequeño en brazos. Aquella preciosa carita, aún se me saltan las lágrimas al pensarlo.
Y ahí empezó todo, 48 horas después salimos del hospital sin conseguir que bruno succionara el pecho ni el biberón, alimentándose de 10 ml desde una jeringuilla, y con un diagnóstico de hipotonía cérvico-axial y micrognatia.
A partir de ese momento ya todo fue un calvario, con apenas 15 días ya tomaba protector estomacal y le cambiaron a la leche especial sin proteína de leche de vaca porque era intolerante y casi había llegado a colitis ulcerosa. Debido a todos los problemas estomacales que tenía no cogía ni 50 gr con lo que no conseguíamos estabilizarlo de ninguna manera.
Se pasaba las noches llorando y nosotros llorando con él. Cuando conseguimos dar con la dosis de medicación adecuada para el estómago, empezó a ganar peso, pero ya llevaba 4 meses de retraso y empezamos a notar que había muchas cosas que por edad le correspondía hacer a nivel psicomotor y no las hacía. Eso unido a que el pediatra descubrió una CIA en una de sus múltiples revisiones, hizo que saltasen todas las alarmas y con sólo 6 meses ya tenía un diagnóstico cardiaco, una cita con genética, un control por digestivo infantil y había empezado en atención temprana con fisioterapeuta y psicólogo.
Todo siguió avanzando y las operaciones empezaron a sonar en nuestra cabeza, corazón, apertura del lacrimal, testículo en resorte, posible nudo esofágico; parecía una pesadilla que no acaba nunca, cada vez que íbamos al pediatra era una cosa nueva
Y llegó el temido pero a la vez esperado diagnóstico, Mutación en KAT6A, y aunque pensamos que un diagnóstico nos daría aliento, todo lo contrario, mató todas las esperanzas que teníamos de que algún día Bruno pudiera llevar una vida normal. Todos los avances que había hecho en los 16 meses que tenía se nos olvidaron, y pensamos que nunca más volveríamos a ser felices.
Al principio nos lo pusieron todo muy mal diciéndonos que no podría hablar que tenía una discapacidad muy grande y que no sabían si llegaría tampoco a caminar, pero poco a poco vimos que con terapias y con esfuerzo se podían conseguir grandes cosas y empezamos de nuevo a ver la luz.
Hoy por hoy, Bruno acude a fisioterapeuta, psicólogo, logopeda, terapia acuática y terapia ecuestre, ya camina sólo y, no habla, pero emite sonidos y dice alguna sílaba. Se relaciona y comunica a su manera a pesar de su discapacidad y, sobre todo, lo más importante, es FELIZ.
Por el camino nos encontramos con la Kat6A Fundation en Facebook y, a través de ellos, con el resto de familias que hay en España y con la Asociacion Kat6A y Amigos, que nos han ayudado lo indecible a
superar cada obstáculo, y nos han guiado para poder ayudar a que Bruno avance todo lo que sea posible.
Gracias a todos ellos y al equipo médico por hacernos fácil lo que al principio nos pareció tan complicado.
Caroline's Autobiography
I was born in 1989. The birth lasted for 33 hours. I was measured to be 49 cm and 3160 grams. During birth I had swallowed amniotic fluid. I could not breathe, and my skin turned blue. The doctors took me to the next room to pump. I also had a hidden cleft palate, so I had difficulties at breastfeeding. I probably couldn’t close my lips around the nipple, so I had to get fed with baby formula. From when I was 7.5 months to when I was 10 months, I was very cold with fever up to 40 celsius. I could often cry until I turned blue and lost my breath, so the doctors diagnosed it asthma. When I was three months old, I was hospitalized for 3 weeks with left foot in a knit because of an bone cyst.(which made it so that the foot broke). I had common cold, chickenpox and otitis, so I had 10 penicillin treatments through 6 months in my early years.
In kindergarten I was a silent and calm child. I remember the other kids didn’t let me in on their play, and I, instead of using words, reacted violently. In primary school, fifth grade, PPT (the school psychiatric team) gave me an IQ test, where my score was a little over “mentally deficient”. The doctor recommended to keep it, and put the term “mild” in front of it, as it would improve my right to facilitation at school. I was granted a classroom assistant, was placed front row in the classroom, window-side. Thus, I had to turn around to see what my classmates were up to. Socially, this was a disaster. I went to a speech therapist, and measurement of hearing. I have had a lot of otitis throughout my childhood. I had many infections as a child, but it’s rare that I become sick when I was in my 20’s. I took the most of it with a smile.
My adulthood has been kind of better. I have some struggles, because I got detected with ADD/ADHD Inattentive type back in 2014 during the autumn, so I’m struggling with some of the symptoms that comes with it as well. I got driver license in 2011, and I love to drive. I would like to expand my social life, but since I’m a calm and silent person(at times) I think it’s a little difficult to get to know more people, specially in occasions where there are many people. I can then seem shy or that I’m not interested, but I easily get distracted when there are alot of people around.
Now that I am an adult, I work in a protected company which is a permanently adapted job for people who for various reasons can’t be in ordinary work. I have great colleagues and it’s a great place to work. We are also good at taking care of health, environment and safety requirements I have two friends that I work with and since they don’t have a driver license, I pick them up in the morning and bring them to work. We use to meet after work and on weekends.
I’m happy that I found and can be a part of the KAT6A support group.
18 Years and 31 Days
18 years and 31 days after he took his first labored breath, we have a diagnosis for my boy.
The genetics department called a couple of days after Christmas to share the news, and I have been reeling since. For 30 days now, I have been down the rabbit hole of investigating KAT6A Syndrome. I waited 16 years for this news. And now that I have it, I’m a mixed mess of emotion. Relieved to finally have an answer. Shocked to finally have an answer, when I was resigned to not ever having one. I’m overwhelmed by the news and the information I’ve been devouring. Gratified to see that I have been providing Braeden with the best options for addressing the symptoms and pieces of this syndrome, with the exception of a supplement cocktail that may help.
I joined a Facebook support group that is nothing short of amazing. For the first time in Braeden’s 18 years and 31 days of life, I am reading story after story about fellow KAT6A parents and children and with tears in my eyes exclaiming “us too!” The camaraderie is uplifting and so much more helpful than I can adequately express. I’m seeing photos of kiddos that could be Braeden at that same age. That hold their hands in the same unique position that he does. There are only 180 or so diagnosed cases of KAT6A Syndrome, worldwide. In a month, that number jumped up from 166 known cases. Braeden is one of the older diagnosed patients. Most of the parents in the support group have younger children. Braeden appears to have a *middle of the road* case. This syndrome affects everyone differently. The severity of symptoms ranges from very profound disabilities, to very mild. I’ve said over and over that I’m an open book because I don’t want other special needs parents to feel the pain of isolation. So far, Everything that Braeden has dealt with, appears to be KAT6A related. The ACM1, apraxia, orchiopexy repair, sensory issues, failure to thrive, low muscle tone, acid reflux…….all of it. KAT6A Syndrome. Within this support group I’ve been able to give parents of younger patients hope that their kids will outgrow some of the symptoms they are dealing with now. I’d forgotten several things Braeden outgrew. Ankle braces, acid reflux, severe feeding difficulties among a few. From parents of the few patients who are older than Braeden, I’ve gotten similar comfort. The main thing being that this doesn’t appear to be degenerative.
The slightly unnerving part of that, is that we don’t know for certain. This Syndrome was only discovered a few short years ago. 2015, I believe.
I’ve chirped about this on Facebook incessantly over the last month. Today I needed to write about it here, to unburden myself of how overwhelmed I am. There are so many moving parts to Braeden turning 18, and this diagnosis is so profound right in the middle of all of those things….today I’m feeling the weight of it all. Today I’m exhausted. And hell, for shits and giggles, my body decided to throw another health crisis for me into the mix. Hello kidney stones, my old nemesis. I passed one during Braeden’s birthday week, and there are 4 more waiting in the wings. Today I have low back pain again, and I am in a cold sweat that another meteor is ready to bust loose.
Today the weight of all of it is heavy.
Today I’m allowing myself some tears, some escape TV watching, and grace for not accomplishing anything on my to-do list.
Tomorrow, I will fill out the research questionnaire online, and register Braeden so that his medical history can be used to further the medical community’s knowledge about KAT6A Syndrome.
Next month, I was gifted airline tickets so I can attend the second annual KAT6A clinic. I’m so looking forward to meeting other people with this syndrome, and their parents who truly understand what this life is like. I think it will be very emotional and uplifting. I’m excited to learn more from the researchers and doctors who are working hard to learn more about it.
For the rest of today…..grace. Giving Braeden a bath. Reading to him for awhile before bed time. Packing his bag to take him to work with me tomorrow. Tonight I will read something that isn’t geared toward finishing the guardianship process, or healing my kidney stones and thyroid and skin cancer. Tonight I will spray my pillow with lavender, and meditate. Tonight I will turn off my brain and sleep. Tonight I will be *brave* enough to *believe* that things are always working out for us.
by Sonia
Read more from Sonia at her personal blog https://andhecallsmemommomm.wordpress.com/
Life as a Father of a Special Needs Child
It feels funny even writing this title, Special Needs Child, what does that mean? All children are special and have different needs. It might be easier to use the other “label” we have recently received medically fragile/technology dependent to describe my son, Toby.
Growing up in a small urban community of 30,000 during the 70’s and 80’s, you knew most people and while there were some kids that needed a little extra, there weren’t many. Unfortunately it wasn’t till I got married and started coaching swimming with Special Olympics that I became involved with the disabled/handicapped community. Over the 15 years that I spent with the team I learned a lot and made some great friends (some of whom now call my son their friend as well) but I will get into that latter.
Zachary my older son was born healthy and only spent the minimum time in hospital. Even to this day he is overall healthy and has developed normally hitting the developmental milestones by which the doctors measure a child. Almost 2 years later my son Toby was born. This was a very different experience.
Toby was born 8 days early on a Friday the 13th. I had to travel for business and was flying home when the doctors delivered him by emergency c-section. My wife had labored part of the night and my parents had come down to take her to the hospital and look after Zachary. When my wife arrived at the hospital she was already dilated but her water hadn’t broken. The doctors discovered that Toby was sideways and tried to turn him before delivery. The doctors discovered that Toby was in distress so decided to do a c-section with epidural. After they broke her water, the doctor’s lost Toby’s heartbeat and decided that they needed to do an emergency c-section with a general anesthesia. When delivered, Toby was without vital signs and had to be resuscitated. The pediatrician was on the phone with the doctors who did the delivery rushing to the hospital in his car so the anesthesiologist and the delivery room nurse resuscitated him. As the doctors weren’t sure how long he was without vital signs and he was having difficulty breathing, they put him on oxygen and rushed him into the special care nursery.
When I landed at the hospital, I called home expecting my wife to be there only to be told that my mother had taken her to the hospital a few hours before. I then called the hospital and spoke to one of the nurses who had just come on shift. All she would tell me on the phone was that it was a boy and he had been delivered by c-section and I should try to get to the hospital as soon as possible. When I arrived at the hospital, I headed right to the maternity ward expecting to find my wife, my mom and my son there. I was told that my son was in the nursery and I could see him but my wife was still recovering from the c-section. I visited with Toby for a few minutes and then went to see my wife who was just coming out of anesthesia. It was different seeing him, all hooked up to various monitors and on oxygen to help him breath. Later that day the doctors came to see us and discuss some of what had gone on during the delivery and they continued to monitor him in the nursery. My wife wasn’t able to get into see him till later the next day as they didn’t want her tearing the stitches. I made sure that Zachary came in to see his mom and new little brother.
Over the next few days, the doctors continued to monitor him and run various tests including head ultrasounds, CT scans, x-rays and bloodwork. Most times the nurses were really good and would let us know when the tests results were received, but the CT results seemed to take forever to be received. Eventually they said that the doctor was coming up to discuss with us. Shortly before the meeting, an unknown individual showed up in the nursery. She spoke with the nurses in hushed tones and this is when I started to suspect that something might be seriously wrong. The doctor arrived and as there were other parents in the nursery asked us if we would like to step across the hall to discuss the results. As we were leaving the nursery, the unknown woman followed and picked up a box of Kleenex on the way out the door. At this point, I knew we were starting a difficult journey. The doctor and social worker discussed the test results. They showed that Toby wasn’t developing as expected. They indicated that they could do further testing here at this hospital but would have to send the results to a children’s hospital about 15 mins away to have them interpreted or they could see about transferring him to the children’s hospital where all the testing could be done and we would have all the pediatric specialists we might need at our finger tips. This was day 5 after delivery. They suggested that we go home that evening (first time my wife had slept away from the hospital since Toby was delivered) and let them know in the morning.
The next morning we went back and met with the doctors. We felt that it was best to transfer Toby to the children’s hospital and so our 5 week journey there began. During his time there, more tests were done, specialists consulted and he continued to monitor for what the doctors called “failure to thrive”. During this time, my wife lived at the hospital and I tried to work, manage home and spend time with Toby. Zachary got to spend quality time with both sets of grandparents and also got to see his brother. Everyone said that he was continuing to grow but not at the rate which they hoped/expected him too. After a total of about 6 weeks in hospital we were finally able to bring him home. His first official trip out was to attend my swim team’s annual pool party and BBQ. The second was to visit with his great-great Auntie who was visiting from the east coast. Over the next year, he continued to be followed by multiple specialists and at a developmental pediatrician. There were a few minor medical issues which were dealt which including club feet surgery (Tendon transfer bilaterally) at 18 months old and strabismus in both eyes at ?. We were told that genetically there was nothing found on the tests done and that they believed the developmental delays he was experiencing were a result of his traumatic birth.
Toby struggled when he started in school because he didn’t speak. We were able to get him additional resources but the education system was recommending that we put him into a communication program which would help him develop functional communication. At age 6 we did this thinking that this would help him and still believed that it was in his best interests to help him grow and develop into the person he was and be able to communicate with those around him. After 3 years in this program, he was making little progress and we were becoming frustrated with some of the “professionals” who were supposed to be working with him. He had not progressed to using assistive communication devices such as his Ipad to communicate and instead preferred to try to verbalize and attempt to speak. At this point while he was able to function at home he was so far behind his peers at school academically that he wasn’t going to be able to return to a regular classroom and we made the decision to integrate him into a lifeskills class. We met with the teachers, school board professionals and made this difficult decision. Since entering this class he has begun to flourish and began to speak more because he was now with classmates who while they all had limitations, most of them did speak and he picked up on this and did start speaking more and his speech began to improve. This improvement continues till today and he is now able to make himself understood verbally in most situations. We see that while his expressive language continues to lag behind, he does understand (receptive language) is much better. We aren’t sure how much of his surroundings he actually understands but it does appear more than he is able to tell us in words.
About 2 ½ years ago we had a number of bouts of pneumonia and our new journey began. Initially they couldn’t understand why he would get so sick from the pneumonia and eventually determined that he had an immunodeficiency. They began treating this and we noticed some improvement. The doctors at our local children’s hospital tried to do a pulmonary function test to determine what if any damage had been done by the recurrent bouts of pneumonia. Unfortunately he wasn’t able to perform the testing at their location due to equipment issues so he was referred to another specialist at a nearby children’s hospital who gathered information, looked at his chest x-rays, did some further testing and came back to us with the question “Is the PFT really the most important thing here or do we need to find out what is going on and work from there?” We agreed that it was more important to determine underlying cause of the lung issues. We went in for what we thought was a bronchoscopy and CT of his lungs to see if they could identify the cause of what they were seeing in the chest x-rays of his lungs. After reviewing the CT the doctors indicated that he appeared sicker than they had expected and admitted him and wanted to run further testing. Over the next 2 weeks he underwent a double bone marrow biopsy, lymph node biopsy and lung resection as well as the bronchoscopy and bronchial lavage (washing of the lungs). All of these came back inconclusive or not clear. No bacteria or viruses grew in the material from his lungs and there wasn’t any evidence of malignancy so they continued to test and coordinate with multiple specialist. After a month as an inpatient they said, that they didn’t know exactly what was going on but we could take him, they would continue to follow him and sent us home with oxygen to used at night and a high dose of prednisone which they hoped would help clear up his lungs, shrink his spleen which was enlarged and hope to see an overall improvement in his health. They also did some genetic testing as they indicated it had come a long way in the years since had testing done at birth.
Months later the results of his genetic testing came back. It showed that he had a “de novo” genetic mutation. It was called KAT6A and had only been identified in the last 3-5 years. No one seemed to know much about, there was not currently any curative treatment and all they could offer was to treat the symptoms caused by it. Through doing research and getting to know others with this rare genetic diagnosis we have discovered that some of the issues he has had at birth are likely related to this misspelling of his genetic makeup but it doesn’t explain his immunological issues. He continues to be treated regularly for the immunology issues and overall his health has improved. He is getting sick less and we are seeing gradual improvement.
At this time, Toby is the oldest of 8 youth in Canada who have been identified and one of approximately 170 in the world, who have this variation in his KAT6A gene. This is still a very rare condition and while we believe that there are likely more people with variant it is a costly and lengthy process to undergo the whole genome sequencing required to identify it.
While it has had its challenges over the years, I wouldn’t trade the experiences and people we have meet over the years for anything. Toby is a happy, loving young man who is growing up and takes his challenges in stride. When he meets a new doctor and they ask if they can poke or prod him to see what an enlarged spleen feels like or listen to his chest, he is more than willing. Just because the doctors say your child is unique or a conundrum, don’t look at this negatively and think maybe by learning about my child they can help someone else.
Holidays with Holden
Christmas has always been a big deal in our house. All of us, kids and parents, enjoy the feeling of Christmas. We especially love the glittery, sparkly decorations that come along with it. We always have lots of garland, lights, and decorations in our house—you know—all the sparkly fun things kids love!
When you have a special needs child, those things can be either wonderful or horrific. For Holden, who is three and a half years old, it depends on his mood of the day. This year, when we pulled the Christmas tree out of the bag for the first time, we thought poor Holden was going to have a heart attack! A big, green, prickly, scary thing in the house! Holden must have thought it was a big green monster. But we got it set up with all the decorations and lights and he began to be curious about it. Pretty soon he was pulling ornaments off the tree. As the mom of three boys, I will be the first to tell you that the last thing you want is a child pulling ornaments and decorations off your beautiful tree. But when Holden began to do that instead of showing fear or aggravation I was happy! We were all relieved he was no longer scared of the tree and was enjoying having it in the house. We let him explore and figure out that the Christmas tree was harmless and was not going to hurt him.
Like many kids with special needs, Holden does not do well with change, and he has become much more observant of his surroundings over the last year. So many different things can upset him and cause him to be very unhappy. Now that it is the Christmas season, our house is not looking the same as it always does. The first few days with the decorations, he was really confused and upset about the changes. With a lot of patience and some time, Holden has become used to all the new things in the house and is actually starting to enjoy some of them.
Since we never know what simple thing might be the one thing that he just doesn’t agree with, we were worried about what his reaction to Sant Claus would be. Surprisingly, Holden was perfectly fine seeing Santa and sitting on his lap! His older brothers were sitting next to him, so that made him feel safe and secure.
We hope everyone has a blessed Christmas season.
Love,
The Green Family
Jack makes a Splash
It has been an exciting few months in our household. We welcomed our daughter, Emma, on July1st, 2018. Jack has been a wonderful big brother thus far. He is beginning to notice Emma more and more each day; there are even times when he seems annoyed by his little sister (as a typical three-year-old might)!
Even though life has been quite hectic since our newest addition arrived, we have made sure to continue with all of Jack’s weekly therapies. One therapy in particular that has made an impact is Aquatic Therapy. Jack works with a PT in the water one on one every Wednesday morning for 45 minutes. Not only does Jack truly enjoy swimming, but the benefits are clearly evident. Each session provides Jack with the opportunity to improve core strength, mobility, balance reactions and range of motion. He is happy and motivated to move in the water. The therapeutic properties of the water allow Jack to move more freely and independently. He tolerates handling, stretching, and active exercises, in conjunction with lots of sensory input. Jack often smiles throughout his sessions and happily kicks and splashes his way around the pool. It goes without saying that physical therapy is so important for our KAT6A kids, but we can honestly say that Jack would not be making all the progress that he is without his weekly time in the water!
The Story of Rüzgar
Hello everyone,
I got naturally pregnant in 2013. During pregnancy, the diagnosis of hydronephrosis in two kidneys was reported in the 23rd week at the baby and then issue was followed by doctors.
A caesarean operation was performed at the 38th week due to a decrease in the water in the uterus and an increase in hydronephrosis in the infant’s kidneys.
On February 18 . 2014, Our little boy Rüzgar was born. When we saw him the first time , The doctors told us that Rüzgar was trapped in my abdomen and that he had an uncut testis.
Rüzgar was circumcised with the diagnosis of hydronephrosis in the first week after his birth. Circumcision regulated the left kidney function of Rüzgar and a month later , it was decided by the doctors to undergo surgery for left inguinal hernia.
When Rüzgar was three months old, we noticed that he did not make any eye contact with us and did not follow us. We decided to go to a doctor about this. The doctor said this was not a big problem and they would follow this issue. They also advised us let Rüzgar to watch the cartoons on the television. Doing this, still did not make any progress but we followed the instructions.
In all these processes, Rüzgar was fed with my breast milk. As his sucking reflex was not so good, we fed him my milk with glassess.
When Rüzgar was six months old, he had epileptic seizures. After the result of EEG, we started to use a drug called Sabril and the result of the brain MR was clean. The EEG results in later processes were clean. In the meantime, a serious problem of constipation did not leave us. He was fed with breast milk for approximately 7 months.
During this process, the kidneys were examined frequently . The functions of the left kidney were stabilized but the doctors decided to operate for the right kidney . Hydronephrosis was rapidly enlarged, and kidney stones were made, and the stone pain began to be serious.
On the other hand, Rüzgar started physiotherapy training and an intensive training was going on. We changed the drug Sabril with Convulex syrup for Rüzgar ‘s epilepsy seizures ,because of the serious side effects for eyes . We are still using Convulex Syrup as 75 cc in the evenings – 75 cc in the mornings.
Our neurologist thought that different medicines would be good for Rüzgar . For this reason , we used three curing Cortexin needles. Later, we used following drug, which is used by homeopaths in the name Cerebrum, for three months. In fact, we tried a diet called GAPS, but we decided that it was not suitable for us because of the kidneys. But I think this diet was good.
In the meantime, a diagnosis could not be found, Doctors told us that he was more close to autism.
When Rüzgar was three years old , we went to the genetic doctor. We did some test given by the doctors , but due to lack of technology in Turkey in that time , the prognosis could not be make . The doctors also informed us that the heart of Rüzgar should be checked. We quickly went to a doctor about the heart and learned that there was a hole in the heart that was not serious, but which had to be followed up. This process is still followed up by doctors.
In addition, we have started physical therapy, pool therapies, sensory integration training, and physical therapy using the Anat Baniel Method. With the help of these lessons / trainings, Rüzgar began to sit and crawl. Those days he didn’t make a lot of noise, now he’s turned into a kid who always shouts and tries to make sounds. Now he is standing on his own by the window and started to walk side by side. He still can’t stand up alone, but he can stand up, with support.
Controls of the kidneys is still continuing . In addition, we are in constantly checked because the kidney is still an issue .Besides all this he drools alot, we call it honey mouth
We went to a doctor in Uster city in Switzerland, which is recommended to us about eye focus. He gave us some lights and sounds. Rüzgar can be a good musician in the future , he has a good ear for music and rhythm.
He is the happiest and the most peaceful child of the world When i look at him i thank God for the moments i spent with him . Everyone’s story is different, I know every child is special, but when you look at Rüzgar, especially when your eyes meets his eyes , you will get overfloated with
magic .
Unfortunately we have no idea how to reach him and how to get in his world.
I hope you can be a light and hope for Rüzgar and us.
How to Teach Your Non-Verbal Child What to do if Lost
Important Safety Tips You Must Teach Your Child if Lost
IIt’s a parent’s worst nightmare and can happen so quickly. You are in a public place and your little one is right next to you, but you look away for one second, and he is gone.
Why teach young kids what to do if they get lost?
Because it can happen to the best of us. I arrogantly used to think that good parents like myself don’t lose track of their children. My two older boys (10 years apart in age) had never gotten lost or separated from me on an outing. But then the twins came along. And humbled me to my core!
The twins have always found great pleasure in going in opposite directions and wreaking havoc at home. So taking them out by myself when they were smaller required keeping them contained in the double stroller. They didn’t like being confined, but it was necessary to prevent one from getting lost or separated from me.
But one day, I foolishly attempted to take them both into the store without the stroller. I only needed one thing, how hard could it be? One toddler on each side of me holding my hand. Easy enough. Until I had to release a kid’s hand so I could pay. One twin took off and when I let go of the other to catch the run-away, he thought it was all really funny, so he darted off too! I somehow grabbed them both, restrained one kid between my knees and the other with one hand while I clumsily used my free hand to finish paying.
PRO TIP:
To make my life easier, I shop for EVERYTHING possible online and use grocery store pickup services and pharmacy drive throughs. I go to great lengths to NOT take the twins out by myself! While it seems the simple solution is to minimize our outings, the reality is that I needed to start teaching the twins what to do if they became separated from me or got lost. And obviously I needed to teach the little turkeys to obey and not run from mommy….but that’s a whole ‘nother blog post!
What if your child is non verbal?
One of the twin boys, Beckem,was born with an extremely rare disorder called KAT6A. One of his struggles is that he is non verbal, yet he comprehends everything that is being said to him. Although he lacks the motor planning to speak with his voice, he communicates with us quite well with some sign language, some word approximations, and gestures, but a stranger wouldn’t be able to understand. Beckem also does well with his AAC device, but he’s still too young to be expected to keep up with it. Before we went to Disney, I brainstormed and researched for months for ways to keep track of the twins in case one got separated from us. At 5 years of age, I knew that Adler would be able to articulate to a grown up the information needed to reconnect with us, but there was no way Beckem would be able to. I looked at those kid gps gadgets but that just didn’t seem practical for us. There are also temporary tattoos you can personalize with your info, but Beckem’s skin is so sensitive that I wasn’t sure if that would work. The identification bracelets seem to be a nifty solution, but Beckem refused to leave his bracelet on when we went to the water park last summer, so I knew that wouldn’t be an effective option.
After all of that searching, I finally thought of the perfect solution and it cost less than $5!
A pet ID tag!
I decided I would attach the tag to Beckem’s shoe. I ordered several of the yellow star tags so I could place one on different shoes he might wear and also put one on his backpack that he carried in the airport. I also put tags on Adler’s shoes since he hasn’t memorized our phone numbers yet. However, even if he had learned our number, if Adler were separated from us, he would likely be so upset that he wouldn’t be able to recall it. The tag has a little key ring and I simply attached that the the shoe string of his tennis shoe. For his Crocs, I used a piece of yarn and tied it through the holes in the shoe. To secure the ID tag to his boots, I use a twist tie.
So that’s it…put a dog tag on my kid? I wish it were that easy! But, you will also need to teach and prepare your kids for what they should do if they get lost.
What parents can do
There are several things parents need to do to prepare for the possibility of this situation.
Let’s Talk
First, you want to talk to your children about the importance of NOT wandering off from you, and what they should do if it does happen. Don’t make it a scary conversation and reassure them that they WILL be reunited with you.
What to Teach
Now, you want to explain to your kids that if they become lost, you will be looking for them and teach them to stay put. If they are also frantically running around or standing in a corner crying, it will take longer for you to find them.
Have them practice what standing tall and still looks like.
Say my name
Teach your child that he should stay put and shout for mom or dad as loudly as possible over and over.
Beckem does say “mama” and “da-da”, but his voice is very quiet. We practice at home periodically how to say “mama!!” loudly, and he thinks it’s great fun! You also should teach your kids their own first and last name asap and mom and dad’s first and last name as soon as they are old enough so you won’t be paged over the intercom as “mommy”. (I taught Beckem to spell and type his name as soon as he was able since he’s unable to verbalize it.)
It’s also a good idea to have kids memorize your phone number, although, I’m not going to rely on their ability to recall it if they are lost and terrified.
If yelling doesn’t work…
I’ve taught my kids to look for a mommy. Chances are, a mom has already intervened though, since every mom within earshot instinctively reacts when hearing a small child yelling “MOMMY!!!!!!” I’ve instructed Adler to find a mommy and speak big and clearly saying: “My name is Adler and I’m lost. Can you help me call my mommy? Here is her phone number on my shoe.” We’ve taught Beckem to find a mommy and say: “Mama!” and point to his tag on his shoe.
Some other things parents should do
Make sure you have a current photo of your child just in case. During our week at Disney, I took a photo of the boys with my cell phone each morning at the park entrance, in the event that I needed to know what they were wearing. I like to think I would remember what I dressed the kids in, but I know that if one of my boys wandered off, I would be so shaken that it would probably be a struggle to remember my own name!
Practice and review
Periodic reminders and practice can help our kids remember what to do if they become separated when in a public place. Being prepared can minimize a potentially scary situation and reunite parent and child quickly.
Medical News
KAT6 Clinic Opens at Boston Children's Hospital
Major Development: A KAT6 Clinic Has Opened at Boston Children’s Hospital
We’re excited to share that a new multidisciplinary clinical program for individuals with KAT6A and KAT6B is now open at Boston Children’s Hospital, led by Dr. Olaf Bodamer and Dr. William Brucker. This clinic will serve as a true medical home for families, offering coordinated care across specialties.
The KAT6 Foundation is proud to have helped fund the development of this program, made possible through the generosity of our donors.
As the team continues organizing the clinic, families who are interested in care are encouraged to contact rarediseases@childrens.harvard.edu. This inbox is monitored several times a day, and families can expect a response within 24 to 48 hours. After reaching out, families will receive an intake form and the opportunity for a brief informal meeting to discuss expectations. Appointments for an initial evaluation are available on a regular basis with Dr. Brucker and/or Dr. Bodamer.
In addition to patient care, the clinic will gather natural history data and collect biospecimens for the IRB-approved KAT6 biorepository, which supports ongoing biomarker discovery. The clinicians will also continue collaborating with research partners such as the Serrano Lab at Boston University.
For appointments or additional details, families can reach the clinic coordinator at rarediseases@childrens.harvard.edu
300 Longwood AvenueBoston, MA 02115
Bowel Obstructions in the KAT6 Population
Parents and caregivers of children or adults with KAT6 disorders are the first to recognize whether the person they care for is in distress. Those continually looking after the person’s needs are the best ones to intervene and advocate for medical care when it appears that a problem is present and getting worse. But what are we looking for and when might it call for emergency care?
INTESTINAL BLOCKAGE
Gastrointestinal issues are common with KAT6 disorders. Low muscle tone throughout the body may mean low motility in the gut — weak contraction of the muscles that mix and propel contents in the gastrointestinal tract. When there is a temporary lack of normal muscle contractions of the intestines this is known as ileus — not a blockage, but a stoppage. (Think of a blockage as a train wreck, preventing any other train from passing through, and think of a stoppage as merely a train sitting on the tracks and failing to move along.)
When the contents of the upper or lower bowel cease to move, the resulting mass can become enlarged and can harden as it dries out, stretching the part of the intestine where the mass occurs. Regular contractions can return and eventually move it along, but if the contents sit too long they can begin to ferment and decay, with potentially serious results. Vomiting and diarrhea, for example, are normal consequences once the body applies its other resources to the obstruction.
If it does not eventually start moving on its own it may respond to non-invasive treatments such as stimulants taken orally or a rectal enema, depending on proper assessment of the location of the problem. But if there is a physical barrier to continued movement of intestinal contents, the problem can quickly become life-threatening.
MALROTATION AND VOLVULUS
Around the tenth week of gestation, as the intestinal tract is developing, it normally moves from the base of the umbilical cord into the abdominal cavity. As the intestine descends into the abdomen, it makes two rotations and settles into its normal position. When a portion of the intestine, or even the entire intestinal tract, fails to lie properly in this space, it ls known as a malrotation.
A malrotation may cause immediate symptoms and problems after a baby is born or may lead only to intermittent trouble, or it may cause no problems at all. In some people it is not discovered until well into adulthood or perhaps never discovered at all. In others, it can be the source of repeated obstructions. The point is, a malrotation is an anatomical defect and one that must be suspected if problems arise, especially in early childhood. It can lead either to continuous or intermittent problems but is not necessarily dangerous.
When a loop of intestine and the membrane that holds it in place twist around each other like sausage links or a kinked garden hose, this causes a bowel obstruction called a volvulus. A certain kind of volvulus in a horse is commonly called a torsion. It is not going to clear and open back up on its own, and normal muscle contractions in the gut are not going to force a trapped mass of intestinal contents to move past it.
The trapped material, already partially digested, continues to break down, though, and some contents may be ejected as diarrhea or gas, while most of it will remain and swell the gut. A person suffering a volvulus, who enters emergency surgery soon enough, may still lose part of the intestinal tract in surgery. Without emergency surgery a volvulus is almost certain to be fatal.
If a volvulus is suspected in an emergency room, a buildup of gas in the intestine may show up on a series of x-rays, which must be taken at intervals long enough for changes to appear but no so long that surgery comes too late.
OTHER GI ISSUES
The esophageal sphincter is the valve between the esophagus and the stomach. When the muscle that keeps this valve closed is weak, a blast of burning stomach acid may rise as far as the throat. This is acid reflux. A baby with KAT6A or KAT6B can be resting quietly in a baby seat, alert and cheerful, and suddenly scream in pain and terror. If this happens with any frequency, reflux should be suspected when nothing else is likely.
Dumping syndrome is a group of symptoms, such as diarrhea, nausea, and feeling light-headed or tired after a meal, that are caused by rapid gastric emptying, a condition in which food moves too quickly from the stomach to the duodenum. This can become an issue after a person has undergone GI surgery. Adjustments in diet or medicine can resolve things, and, if surgery was involved, time may be the best healer.
OUR NEED TO REMAIN VIGILANT
Communication problems are common with the KAT6 population as well as an apparent high tolerance for pain. Children and adults with KAT6 disorders, especially those who can’t tell us that something hurts or where it hurts, need to be monitored continually for lack of gut movement. Constipation, (a general term for any disruption of intestinal activity that leads to pain and irregularity of bowel movements), can make a normally cheerful person irritable.
A volvulus is a rare occurrence in the general population, but among the KAT6 population it seems common enough to be of serious concern. Although we are still studying the matter and don’t have statistics, it appears that untreated bowel obstructions are the leading cause of death among children affected by KAT6 disorders.
Many of those with KAT6 disorders are tube-fed through a gastrostomy. For some, this is their only source of nutrition, and so variations in gastrointestinal activity are less likely to be caused by daily changes in diet.
What is the person’s normal frequency of bowel movements? Has it been a day longer than normal? Two days? Is she also becoming irritable, combative, unable to sleep? Does this happen in repeating cycles? What does her blood work show? What does a gastroenterologist say? Do cycles of irritability correlate with cycles of unusual toilet contents? Someone close to the patient needs to be asking these questions and insisting on answers.
People with KAT6 disorders may show no signs of a bowel obstruction until it has progressed to a serious degree. They may quietly tolerate the increasing pain until it has become severe. An obstruction can go from bad to dangerous quickly. It is hard to differentiate an obstruction from other gastro-intestinal issues. Obstructions can happen again and again and can strike at any age.
While it is probably more likely to become an issue early in a child’s life, an affected person who has a KAT6 disorder can seem to be OK for years, perhaps irritable at times for no apparent reason. Just because it hasn’t been diagnosed at an early age it could be that a complete obstruction simply hasn’t happened yet. The best prevention of complications is be on top of it all of the time. Not all doctors understand that, with a bowel blockage, you can still pass diarrhea — the assumption seems to be that if they’re passing anything at all then there’s no obstruction.
Medical services vary from country to country, and while another country may have excellent hospitals and perfectly competent doctors, they may also have different approaches to parent involvement, different protocols for intervention, and different standards for what can and should be treated.
Compounding the danger, a doctor may not consider an intestinal obstruction if a parent or caregiver hasn’t suggested it, and so a doctor wants to ascribe a change in behavior to anxiety, a virus, a food allergy, and so on. Meanwhile the child has mere hours to get the problem resolved or else irreversible damage has been done with a high potential for fatal results.
LIVING WITH IT
We aren’t supposed to tell people about our poop or ask others about theirs. With KAT6 in a family we could save a life if we get beyond that taboo. In our own experience, Beth and I share in all phases of the care of our son, Sam, who is now 32 years old. He is one of the more severely disabled individuals with KAT6A syndrome, and so we must pay constant attention to all the signs he gives us. We “read” his behavior, we both examine his bowel movements daily or at least describe to each other what he has done. (He even has an “I POOPED TODAY” T-shirt.)
Sam has had a gastrostomy and feeding tube since he was a baby and receives all medicine and sustenance through the tube. He had a nissen fundoplication during his first surgery as a baby, so he cannot burp or vomit. He had a malrotation of the duodenum at birth (corrected by surgery), reflux as a baby, a volvulus before he was two (indicated by changes in a gas pocket on successive x-rays), a second near-fatal obstruction due to adhesions, and numerous instances of ileus and other partial obstructions requiring hospital stays. As an adult he is now treated for ulcerative colitis. He does not walk and can’t speak. But he is engaging and even mischievous, affectionate, enthusiastic, and popular. When he hurts, his only ways to show it are in withdrawal, resistance, and restlessness.
We are fortunate that Sam has had doctors who care about him as a person and who listen to us, his parents. His doctors, though, need to trust what we are telling them, and so our information must be reliable. By educating ourselves, paying close attention to the signs that Sam gives us, and making sure we communicate consistently and accurately with medical providers, we have been Sam’s best advocates.
Many parents have observed GI benefits from a mitochondrial cocktail and other supplements, such as Cytra-3. Learn more about these supplements by watching Dr. Richard Kelley’s presentation from our 2022 Conference. It is essential to consult your child’s physician before starting anything new.
Foundation News
KAT6 Foundation: Leadership Update
Dear KAT6 Families, Friends, and Partners,
We are writing to share an important update about the KAT6 Foundation’s leadership.
The Board of Directors would like to share an important recent change to our organization. After eight years of incredible service to our community, Natacha Esber and Emile Najm, the founders of the KAT6 Foundation, have made the decision to step down from their positions as Chair of the Science Committee and CEO, respectively. We extend tremendous gratitude to them as the creators of our foundation, and as tireless advocates for our mission to advance scientific research and to support our families. There is no part of this organization that has not been touched by their incredible passion, vision and drive. Natacha has advanced scientific research and provided countless hours of medical advice to numerous families. Emile has run the legal and financial aspects of our foundation, as well as overseeing all of our committees. Together they created our conferences and enthusiastically welcomed new families into our fold.
We are beyond grateful to them for founding this organization and for the many years of dedication, vision, and relentless work they have poured into building a brighter future for individuals living with KAT6A and KAT6B. Their leadership helped create the strong foundation we stand on today, and because of their efforts, our community, our research network, and our global visibility have grown in extraordinary ways.
They will always be a cherished part of our community, and we hope you will join us in thanking them for their years of service and lasting impact.
Our Board of Directors is fully engaged and will be stepping in collectively to ensure uninterrupted operations during this transition. In the meantime, Jordan Muller will be serving as Interim Executive Director, providing operational leadership, coordination, and continuity.
Our Science Committee members will continue their work without interruption, and all funded research projects and partnerships remain active. There will be no delays or changes to ongoing scientific or community initiatives.
The heart of the KAT6 Foundation has always been our community and the many dedicated parents, caregivers, clinicians, and volunteers who bring this work to life. That remains absolutely unchanged.
As the Foundation evolves, we will post several new roles in the coming weeks. If you or someone you know would like to join our mission, we would love to hear from you. Our team is mostly made up of parents and caregivers, but not entirely, and we welcome anyone with a passion for helping this community thrive. Please keep an eye out for position announcements soon.
We are also thrilled to share that planning is underway for our first ever KAT6 Family Weekend in 2026. This is a milestone event many of our families have dreamed of. We cannot wait to bring our community together in person for connection, learning, joy, and support. The date and location will be announced in January 2026, and we look forward to seeing you all there.
We are confident that this next chapter will bring continued growth, clarity, and opportunity for our community. Our mission remains unwavering: to advance research, strengthen family support, and build a connected global community for every individual living with KAT6A and KAT6B.
With deep gratitude for Emile and Natacha’s incredible service, and with excitement for the road ahead, we thank you for your trust, your compassion, and your partnership.
With appreciation,
The Board of Directors
KAT6 Foundation
For more information: Q and A
The Story Behind 'KAT6 and Me': Turning a Family's Journey into Hope
When Kristin Ross O’Brien’s son Max wanted to write a school report about his younger brother’s rare genetic condition, she made a surprising discovery; there were no children’s books about KAT6.That moment sparked a dream: to create the story that didn’t yet exist.Together with her friend and child life specialist, Dr. Lindsey Murphy, Kristin brought that dream to life in KAT6 and Me; a beautifully written and illustrated book that teaches, comforts, and celebrates children living with KAT6 disorders, while helping others understand and include them.“The idea for KAT6 and Me began with Max,” Kristin recalls. “He wanted to write about KAT6, but there weren’t any books, not even for adults. From that moment, it became our family’s wish to one day write the children’s book that didn’t exist; a story that could teach, comfort, and celebrate kids like Bash, and help others understand them too.”
A Collaboration Built on Friendship and Shared Purpose
Kristin shared her idea with longtime friend Dr. Lindsey Murphy, an associate professor of child life at Missouri State University. The connection between the two was immediate.“I’ve been a witness to Bash’s journey from the beginning,” Lindsey says. “Knowing there was something tangible I could do to support their efforts for education, inclusion, and advocacy was an easy ‘yes.’”The writing process flowed naturally.“We’d already been friends for years, connected through a playgroup for our kids,” Lindsey explains. “Kristin brought the heart and soul. She knows her child and the KAT6 community better than anyone. My background as a child life specialist helped us make complex or emotional topics understandable for children. Together, we blended those strengths.”Kristin agrees that the process was both heartfelt and fulfilling.“We wrote this book in the fringes of our lives- over coffee while our kids happily destroyed the playroom,” she laughs. “We talked about how to highlight Bash’s abilities instead of just his challenges, and how to weave facts into storytelling that still felt magical.”
The Heart of the Story: Bash
At the center of KAT6 and Me is Bash, Kristin’s youngest son, whose journey has inspired many.“Bash came into our lives first as our foster son when he was six months old and instantly captured our hearts,” Kristin shares. “Before he turned two, we were blessed to officially adopt him and make him a forever part of our family.”Diagnosed with KAT6B syndrome as an infant, Bash’s life has been filled with both challenges and incredible joy. Despite facing multiple therapies, surgeries, and medical complexities, his optimism and determination shine through.“Every small victory, every sound, and every step for Bash is a celebration,” Kristin says. “He’s a kindergartener, a disability advocate, and even a playground philanthropist. . . helping bring adaptive playground equipment to our small town. His happy personality touches everyone he meets.”
A Bridge for Families, Educators, and Professionals
Both authors hope KAT6 and Me will serve as more than a story. They see it as a bridge for connection and understanding.“For families, I hope this book gives language they can use to explain a diagnosis in a positive, age-appropriate way,” Lindsey says. “For professionals, I hope it reminds them that small gestures, listening, explaining clearly, offering hope — make a lasting impact.”Kristin adds,“My greatest hope is that KAT6 and Me becomes a bridge. I want families who are newly diagnosed to feel less alone. I want siblings to have words that help them explain and celebrate their brothers and sisters. I want teachers and classmates to see what inclusion looks like- to recognize that kids with complex needs have the same love of laughter, friendship, and play as any other child.”
A Ripple of Awareness
Since its release, KAT6 and Me has reached far beyond the rare disease community.“We expected families affected by KAT6 to be our main audience,” Lindsey notes, “but teachers, advocates, and libraries across the world have embraced it as a tool for inclusion and awareness.”Kristin and her family have shared the book through local events and readings in Boonville, Missouri, and have donated copies to schools, hospitals, and libraries.“Parents of children with rare diagnoses have sent us pictures of their kids holding the book,” Kristin says. “Teachers have told us they’re using it to start conversations in classrooms. And siblings, kids like my Jack, Max, and Leah, now have a way to explain and understand their brother’s condition. That’s exactly what we dreamed this book could do.”
Giving Back to the Community
To honor the children and families affected by KAT6 disorders, all royalties from KAT6 and Me are donated to the KAT6 Foundation to support research, awareness, and family connection.“Every purchase helps fund the search for answers and celebrates children like ours,” Kristin explains.Lindsey and Kristin’s collaboration continues, with plans for additional projects to serve families across the KAT6 community.“Our conversations keep sparking new ideas,” Lindsey says. “We already have plans for more books to reach other audiences within the KAT6 community.”
A Story That Connects and Inspires
What began as a school project has grown into a heartfelt movement of awareness and inclusion. Through KAT6 and Me, Lindsey Murphy and Kristin O’Brien remind readers that every story, no matter how small, has the power to connect, to teach, and to bring hope to families everywhere.“I learned that hope grows when it’s shared,” Kristin reflects. “Every message from another family, every photo of a child holding the book, reminds me that stories can connect people who might have otherwise felt alone.”About the AuthorsKristin Ross O’Brien is a writer, advocate, and mother of four living in Boonville, Missouri. Her family is passionate about inclusion and rare disease awareness.Dr. Lindsey Murphy is an Associate Professor of Child Life at Missouri State University and a dedicated advocate for children with complex medical needs.Read More about their journey in Q&A: Dr. Lindsey Murphy and Kristin Ross O'Brien
Empowering Families Through the Empowered Grant
"Wilder has done so well with the therapies she has received with the help of the Empowered Grant!" KAT6A and KAT6B syndromes are a pair of rare genetic variants that can cause a spectrum of health complications, impacting those diagnosed to varying degrees. As a foundation, we strive to spread awareness and advance research surrounding these syndromes. Part of this mission is fostering a strong community that supports individuals diagnosed and their families.
However, while essential and irreplaceable, support alone is not enough to address the wide range of complications many individuals face. Therapies and accessibility equipment—among other forms of treatment—allow individuals diagnosed with KAT6A and KAT6B to experience life more fully and with greater ease. Unfortunately, the more impactful the solution, the higher the cost—expenses that not everyone can afford.
Empowered Grants provide individuals diagnosed with KAT6A and KAT6B the funding needed to purchase assistive equipment, treatments, and technologies that may otherwise be out of reach.
Take Jack’s family, for example. While society has become increasingly accessible, there is still much work to be done—especially in historic areas where equipment like Jack’s wheelchair can be difficult to maneuver.
With help from the Empowered Grant, Jack’s family was able to purchase a portable ramp that has allowed them to take Jack into shops and restaurants with ease. Jack’s mother, Elyse, explains, “Purchasing and using the ramp in public has not only helped us, but helped many others, as the ramp has encouraged local business owners to purchase their own portable ramps for public use!”
Families have also used the grant to address more specialized needs. For example, David Exl explains that his daughter, Ella, was diagnosed with KAT6A, “which affects both her mental and physical development,” and “CVI (Cortical Visual Impairment), a visual processing disorder that makes it difficult for Ella to interpret visual stimuli.”
Using the Empowered Grant to fund Ella’s physical therapy, Exl shared that “a major milestone came in the fall of 2023 when she started crawling—it was the first time she could move around on her own.”
In addition to medical treatments, meaningful social connections have proven instrumental in the lives of KAT6 families. The Empowered Grant also supports these connections by helping families—like Siahna Anderson’s—fund special programs such as summer camps.
According to Shannon Anderson, Siahna’s mother, at “Adams Camp—a camp designed specifically for kids with special needs—” Siahna “gets to experience camp activities such as swimming, canoeing, horseback riding, summer tubing, shopping, and overnights with friends.” She also receives therapies such as speech, music, occupational therapy, physical therapy, and art therapy.
These programs offer individuals with KAT6 a sense of belonging and normalcy that may be difficult to experience otherwise. Living with any condition can be scary and isolating, but the opportunities made possible by the Empowered Grant can ease that burden through new experiences and meaningful connections.
Backed by our generous donors, we have awarded more than 120 Empowered Grants to KAT6 families around the world. Whether for medical equipment or specialized therapies, this funding provides individuals access to essential resources tailored to their unique needs. The KAT6 Foundation remains deeply committed to supporting our community through Empowered Grants—and the life-changing opportunities they make possible.
Learn more about how to apply for an Empowered Grant to support your child here.
KAT6 Foundation Selected as a 2024 #RAREis Global Advocate Grant Recipient
We're excited to announce that we've been selected as a 2024 #RAREis Global Advocate Grant recipient by the #RAREis program from Amgen! In total Amgen awarded 75 one-time $5,000 grants to global rare disease advocacy organizations to support programs and disease education initiatives.
We’re motivated to continue making a positive impact for the rare disease community by expanding our efforts in KAT6 education and advocacy as we work to address the needs of all those impacted.
Learn more about the #RAREisGrant here: https://www.rareiscommunity.com/rareis-global-advocate-grant/
#RAREisTM began as a social media campaign launched by Horizon Therapeutics, now Amgen, in 2017 to elevate the voices, faces and experiences of the rare disease community. It has since grown into a global program that provides individuals and families around the world with access to resources that connect, inform and educate as they navigate their daily lives. The hashtag (#), #RAREis, remains as a way to follow the conversation on social media and remains in the name and logo to represent the broader program and community. As part of their mission, they strive to improve the experience of living with a rare disease by providing support to many organizations that offer crucial programs and services for people living with rare diseases.
KAT6 on Screen
July 1, 2023
Working through ZebraKinder — our KAT6 counterpart in Austria, filmmaker Niko Mylonas has released the new production, “Genetic Defekt.” Coordinated by executive producer (USA) Emile Najm for the KAT6 Foundation and retaining its German title, the production is available in English narrated by our own Katie Bator as well as in its original German.
While the film does touch on the technical aspects of KAT6, it is, in essence, an opportunity to get acquainted with families at home and abroad who live with KAT6A and KAT6B. We of course want to educate ourselves on the ways in which the genetic defect expresses itself in its several variations, but the film centers around the daily lives of those affected.
We see in the film the spectrum from subtle, almost unnoticeable effect to severe impairment, depending on the type of gene anomaly — truncation, missense, deletion, and other variants. We meet Ella in Innsbruck and her advocate-aunt, Monika Rammal. We visit Gianna in Michigan, Samantha in Germany, Will in New York, Warren, Bay, Max, Hadley, and many more. We hear from some of the scientists and parent-advocates we’re familiar with including Dr. Jacqueline Harris, Dr. Angie Serrano, Aimee and Jeff Reitzen, Susan and George Hartung. We visit with the Najm family, who, on behalf of Peter, had the inspiration in 2017 to organize parents in starting a foundation for KAT6 support and research.
In addition to a glimpse into the everyday trials and sweet triumphs of those who live with KAT6, the film lets us spend a poignant few minutes with the parents of Helin, a girl in Germany who fell ill and, although brought to a hospital, did not survive. Her parents share the message to be learned from that tragedy.
While the film points out that the disease is yet rare, it is not new. Nor perhaps is it as rare as was previously thought. And that could be the film’s lasting contribution. Once you’ve seen it, show it to others, speak of it, send it, share it widely. Make it the centerpiece of a gathering or fund-raiser. And make clear that, whenever there is a question of a genetic irregularity in a child, testing is available. Our children deserve the care we can give, and we, as parents and caregivers, deserve the best information.
At 48 minutes in length, “Genetic Defekt” is a tool we have long needed to promote awareness of the adversity that has brought us together.
-OR-
Picture: Kuno Büsel (left) and Niko Mylonas (right)
We are pleased to announce that on September 28, 2023, the KAT6 Foundation was awarded the Austrian Child Welfare Award, the MYKI-Award 2023 for the film.
Picture: Executive Producer (Austria) Monika Rammal receiving the MYKI-Award on behalf of the KAT6 Foundation.
The KAT6 Foundation Establishes Committee to Study Mortality
TO ALL KAT6 CAREGIVERS:
A PLEA FOR INFORMATION
The KAT6 Foundation has established a committee to study mortality within our community. It is sobering to realize that there is a need for this. While we are all here to surround and support those burdened with the loss of a loved one, the ultimate objectives for this committee are to guide parents in understanding how best to adjust to KAT6 disorders and to prevent suffering among our most vulnerable members.
As parents we are silently alert for signs that our child is in distress, which can arise due to sickness, physical trauma, or emotion. We watch for the expected discomfort of common illnesses.
A child who is upset may simply be complaining out of selfishness or a violated sense of fairness, and what’s wrong can be easily fixed. When we hear crying or whining, though, especially when children are immature and lack verbal skills, we pay attention to the other ways they communicate.
AN OVER-RIDING CONCERN
Our children with KAT6 disorders must endure the usual childhood ailments, but they (and we) may not suspect less-common possibilities that lurk in the background. Heart conditions and bone frailty are two that have proved common, but one more affliction has been responsible for claiming the most lives among our affected population: bowel obstructions. Over a three-year period we have lost as many as five members of our tiny group to this tragic cause.
Slow motility in the gut — weakness of the muscles that push the contents along — is a common KAT6 disorder. Symptoms of a bowel obstruction are subtle at first and can be mistaken for something else. Obstructions do not readily clear without intervention, and there is no easy test until the situation has become critical.
Many of our kids have a high tolerance for pain and, when in distress, may at first seem merely to be cranky or anti-social. If their sleep patterns are already poor — and that is common — then we may not notice this one more thing contributing to their insomnia.
It is hard to imagine a child’s misery, unable to describe the pain, when we, the care givers who know our children, and the medical providers have not yet even suspected gut pain. And it horrifies us to think that a child can die not understanding why we are failing to do something to ease the agony.
WHAT YOU CAN DO NOW
With the high proportion of deaths due to this one cause, the mortality committee urgently asks parents and caregivers to help. With an eye to preventing the suffering of even one more bewildered and innocent member, the committee needs data, clear, reliable, factual information.
While we await autopsy reports, it is especially important that all KAT6 individuals be entered into the NORD Registry. The more we know about the ways in which KAT6 disorders are manifested the better the Foundation can support meaningful research, support caregivers, and help assure the comfort and well-being of the ones who have brought us all together.
To create a registry entry for a person with KAT6A or KAT6B, please use the link: https://kat6a.iamrare.org/Account/Register
To update an existing registry entry, and ideally you would do so annually, please go to: https://kat6a.iamrare.org/Account/Login
WHAT HAPPENS TO THE DATA
De-identified data in the KAT6A/KAT6B Patient Registry is available to scientists — including medical professionals, geneticists, pharmacologists, nutritionists, and others — who want to study any aspect of KAT6A and KAT6B. The KAT6 Foundation provides funding for many such research projects.
Members of the Foundation and the mortality committee are notified of the loss of a community member only through our support network, not by NORD or any other agent that is properly committed to privacy. Our ability, as a committee of the Foundation, to obtain an autopsy report and other information depends on the willingness of those who are affected and have access to the report and the details of the family’s loss.
To contact a member of the mortality committee, please use the contact form at https://kat6.org/contact or add a post to the KAT6 Support Group page at Facebook: https://www.facebook.com/groups/803280496369674
Your information may help save a life!
KAT6 Foundation Reaches Milestone as First Funded Research Project is Published
We are proud to report that research led by Dr. José A. Sánchez-Alcázar and his team was published by Genes on November 15, 2022 in an article titled Pantothenate and L-carnitine Supplementation Corrects Pathological Alterations in Cellular Models of KAT6A Syndrome. This is an important milestone for our Foundation as it is the first research project that we directly funded to reach publication, and is an important step forward on the path to finding a treatment for KAT6 individuals. Development of surrogate models simulating KAT6A gene variation is the first step towards understanding the pathophysiological alterations caused by this gene variation. By outlining pathophysiological pathways, treatment model(s) addressing alterations in these pathways can be developed for testing.
Three individuals with KAT6A gene variation participated in the study conducted at Universidad Pablo de Olavide in Spain. An initial series of experiments generated evidence supporting the use of patient-derived fibroblast to study KAT6A gene variation. The team identified four critical pathophysiological processes altered by KAT6A gene variation: 1) Coenzyme A (CoA) metabolism, 2) Iron metabolism, 3) Enzymatic antioxidant system and 4) Mitochondrial function. Two compounds were identified to have a positive impact on the altered physiological pathways. These compounds are: 1) Pantothenate and 2) L-carnitine. Pantothenate is a CoA metabolism activator and L-carnitine is a mitochondrial boosting agent. Supplementation with pantothenate and L-carnitine supported the survival of the KAT6A fibroblast in a stress inducing medium. The concentration of pantothenate and L-carnitine varied in all three KAT6A cell lines suggesting that different type of mutations respond differently to these positive compounds. The KAT6A gene plays a significant role in histone acetylation which is a key process involved in cell progression and differentiation. Supplementation with pantothenate and L-carnitine resulted in significant increase in histone acetylation, recovery of gene expression patterns and expression levels of proteins affected due to the KAT6A gene variation.
We want to extend our sincere thanks to Dr. José A. Sánchez-Alcázar and his entire team for their professionalism and commitment to rare disease research and the KAT6 community. We look forward to building upon this partnership in the future.
Recap of KAT6A & KAT6B Virtual Symposium: GI Health and Beyond
The Gastrointestinal Health and Beyond in Children with Rare Genetic Variations was a 2-hour long, patient-centered, collaborative event organized by the KAT6 Foundation. It was designed to fuel conversation about the gastrointestinal challenges faced by children with KAT6A and KAT6B gene variations and enable open dialogue between families, clinicians, and researchers. The webinar provided a platform for the KAT6 community to expand its network and build connections with new researchers and experts working on tackling GI and GI related issues. More than 90 individuals registered for this event. On the day of the webinar, 20 families and 35 scientists attended the event. With some international representation, the majority of the families and researchers were based in the USA.
Dr. Tanya Tripathi, research coordinator of the KAT6 Foundation moderated three scientific presentations by renowned scientists – Dr. Sarkis Mazmanian, Dr. Gustavo Mostoslavsky and Dr. Richard I Kelley. Please read the summary of the presentations here.
We Urge Doctors to Dig Deeper When Children are Struggling to Gain Weight
The Oxford dictionary defines insidious as: proceeding in a gradual, subtle way, but with harmful effects. Most people associate this term with clever criminals. Today I am writing this to ask you to think about it in another way.
Perhaps the greatest joy a person can experience is welcoming a child into the world. So many dreams and visions for the future. Ideally, those dreams come true. But not always. Sometimes things don’t go as planned. The baby doesn’t learn to walk, to talk, to play with others. These things happen unfortunately, but no one is blamed. In our present day life we have learned how to address these issues – physical therapy, occupational therapy, play therapy, speech therapy are just a few of the remedies that are prescribed, and they usually help to some degree.
But what if the problem is “gradual, subtle, but harmful”? What if the child can’t seem to gain weight, can’t seem to digest food properly? In medical jargon this is called “Failure To Thrive”. But in this case, often, someone is blamed – the parents.
In the last decade genetic testing has revealed dozens of disorders not previously identified. “With a combined prevalence of ~17% among 3- to 17-year-old children in the United States, neurodevelopmental disabilities are the most prevalent chronic medical conditions encountered in primary care” (Savatt, Myers Genetic Testing in Neurodevelopmental Disorders). One of these is a disorder called KAT6A. It is a rare condition that can have devastating effects, including feeding difficulties. As affected infants age, they may experience difficulties feeding because of problems with the movements of the muscles of the face (oromotor dysfunction), swallowing (dysphagia), and there can be a risk of food, liquid or other foreign material accidentally going into the lungs (aspiration). Infants can have additional symptoms involving the gastrointestinal tract including backflow of the contents of the stomach into the esophagus (gastroesophageal reflux), constipation, and abnormally twisting or rotation of the intestines (intestinal malrotation), which can cause pain and bowel obstruction (Esber, KAT6A Syndrome). All of this means the child does not gain weight as expected. But, because this is a rare, newly discovered disorder, the medical community is often unaware that this is a symptom of a syndrome, not a result of parental neglect. Too many parents in these circumstances have been blamed, and even threatened, by professionals who thought they were doing their job. Here are a few of their stories….
We had a failure to thrive diagnosis from the day she was born. She was born hypotonic and with almost no sucking ability (she was also 7 weeks early). Her twin sister developed normally and that should have been a HUGE clue something was wrong with her. We actually did get reported to CPS and had to work six months with a social worker when she was 8 years old to prove it wasn’t what I was doing, but my daughter’s inability to eat and gain weight. We were easily dismissed after six months but the emotional damage done to me was almost irreparable. We did not get our diagnosis till our child was 29 years old. I have played conversations over in my head so many times over the years…
I went through the same thing – my son was dx’d “failure to thrive” at 6 weeks and I was told I wasn’t feeding him enough and the healthiest organic formula I gave him must not be nourishing enough. I researched myself and found he had a TONGUE TIE. I took him to a new pediatrician and she said it was the most severe case she had seen and clipped it right there…
We had a similar issue with our daughter and the dietician accused us of not feeding her enough calories even though we were following the plan she provided for her. She said it wasn’t enough at the following appointment when I read back what we were giving her….which was still the plan she provided…
In October 2020, my son was approximately 1 year and 4 months old. I took my son to get checked out for genetics because he was delayed and showing symptoms of retardation. I explained that we had chosen to make my son’s own food. Specialists came to our house and questioned every step on how we made the foods and sent us to a dietitian once a month. The dietitian did not see anything we did was out of the ordinary. My son continued to not gain weight and I found myself force feeding him to try and put weight on him, as the doctor said she would report us to the Department of Family Services if he did not gain weight and size. An investigator from DFS came to our house. Finally, in February of 2022 genetic testing revealed my son had KAT6A, which explained so much of the issues we were experiencing.Eventually the director of this hospital called to apologize about what had been done to us and let us know that this doctor was no longer working there…
Our family was investigated. However, when our child had to be hospitalized, and the hospital staff fed our daughter, it became clear this was not a problem of neglect…
In our world today with medical discoveries being made every day, it is impossible for anyone to keep up. But, exactly for this reason, it is so important for those that are responsible for the welfare of our children, to not make assumptions that can have devastating effects. The KAT6 Foundation is dedicated to research and raising awareness of KAT6 syndromes and we hope this article will take one step forward in that direction. These links provide more information about KAT6A and KAT6B. Even if your child is thriving, please share this article with your doctors, as it may help avoid the heartache the parents have experienced.
Research Updates
2025 KAT6 Foundation Newly Funded Research Projects
We are pleased to support eight new studies advancing our understanding of KAT6 syndrome.
These projects address disease mechanisms, model development, potential therapies, and biomarkers—laying critical groundwork for clinical trials.
1. Engineering novel genetic tools to unravel the complex KAT6-disease phenotype
Chief Investigator: Effie Apostolou, PhD
Institution: Weill Cornell Medicine, New York City
Dr. Apostolou’s team is working to create a stem cell genetic model which will allow them to control the amount of KAT6A and KAT6B proteins available in a cell. This will allow them to see how different amounts of these proteins affect cell development and highlight future potential therapeutic targets. The group is committed to making their model available to the broader research community. (This study is fully funded by an anonymous donor.)
2. Patient-specific neurodevelopmental models for KAT6B mutations
Principal Investigator: Valerie Arboleda, MD, PhD
Institution: David Geffen School of Medicine, University of California, Los Angeles
This study leverages patient-derived induced pluripotent stem cell (iPSC) lines to investigate how specific KAT6B variants contribute to the phenotypic divergence between Genitopatellar Syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS). Brain-like cells grown from patient samples will help researchers understand condition-specific development and open the door to personalized therapies.
3. Neurobehavioral differences in early- and late-truncating KAT6A mouse models
Principal Investigator: Valerie Arboleda, MD, PhD
Institution: David Geffen School of Medicine, University of California, Los Angeles
Dr. Arboleda’s team is creating new, KAT6A variant-specific mouse models to study how different types of KAT6A variants affect brain development and behavior. Based on data from their lab, they will test therapies to see if it can help improve symptoms in mice with severe KAT6A mutations. This study brings us closer to testing treatments that target the specific effects of different mutations in people.
4. Biomarker discovery in KAT6A for translation into clinical trials
Chief Investigator: Sarah Donoghue, MBBS, FRACP
Institution: Murdoch Children’s Research Institute (MCRI), University of Melbourne, Melbourne
This project seeks biomarkers in blood and brain tissues to further understand how cognitive function develops in KAT6A with the hope that we will be able to use this information to measure disease progression and treatment success. This work is building on multi-Omic work that we are doing in the lab to characterize KAT6A models of mice and KAT6A human cortical neuron experiments. We are hoping to understand the impact of KAT6A on brain function in mice and whether carnitine treatment improves this, paving the way for future human trials. Together, these studies will help get us closer to starting clinical trials in people with KAT6A syndrome.
5. A multidisciplinary clinical program and identification of a metabolomic profile in KAT6A/KAT6B conditions to inform clinical trial readiness
Co-Investigators: Olaf Bodamer, MD, PhD andWilliam Brucker, MD, PhD
Institution: Boston Children’s Hospital & Harvard Medical School, Boston
Dr. Bodamer is launching a new clinical program for patients with KAT6A and KAT6B syndromes at Boston Children’s Hospital. The team will collect detailed health data and samples from patients to better understand the natural course of these conditions. They’ll also search for unique biomarkers that could help doctors know when a treatment is working. This project combines high-quality patient care with research aimed at preparing for future clinical trials.
6. Epigenetic landscapes and gene regulation in KAT6 disorders
Co-Investigators: Maria A. Serrano, PhD and Gustavo Mostoslavsky, MD, PhD
Institution: Center for Regenerative Medicine & Boston University Chobanian & Avedisian School of Medicine, Boston
This research examines how KAT6 mutations affect gene regulation in brain, gut, and blood cells. The team will use an advanced method to see how these cells’ “epigenetic landscapes” (chemical markers that control gene activity) are different from healthy cells. It may also identify blood-based biomarkers for easier monitoring of disease progression and treatment.
7. CA3 neuronal development in KAT6A and KAT6B patient-derived iPSCs
Principal Investigators: Thomas Durcan, PhD, Faïza Benaliouad, PhD and Gilles Maussion, PhD
Institution: Neuro: Montreal Neurological Institute-Hospital & McGill University, Montreal
Focusing on the CA3 hippocampal region linked to memory, this study uses patient-derived stem cells to uncover how brain cell development is altered in KAT6 syndromes. The goal is to find points for therapeutic intervention.
8. When Proteins Go Wrong: Unravelling the Impact of KAT6 Variants on Protein Structure and Function
Principal Investigator: Shabih Shakeel, PhD
Institution: Walter and Eliza Hall Institute of Medical Research
This project is focused on characterizing the effects of different KAT6A and KAT6B mutations on protein structure and important protein functions such as binding with protein partners and acetylation. They will do this first characterization by isolating the proteins and studying them in test tubes. Dr. Shakeel’s team will then see how these changes in function lead to downstream changes to actual cells. (This study is fully funded by an anonymous donor.)
MCRI is Seeking Participants for New KAT6A Research Study
Biomarker discovery in KAT6A for translation into clinical trials
For KAT6A syndrome and other neurodevelopmental disorders, researchers are starting to understand the dysregulated cellular processes affecting neurons and their supporting cells. The Chromatin Disorders Research Team at Murdoch Children’s Research Institute is currently using a mouse model, alongside human cortical neurons to study gene expression and metabolomics KAT6A syndrome, in collaboration with Professor Anne Voss at the Walter and Eliza Hall Institute of Medical Research. This work is being led by PhD student Dr Sarah Donoghue and supervised by Professor David Amor and Professor Paul Lockhart. The goal of this project is to understand the differences in brain development that occur in KAT6A syndrome, and to identify biomarkers that may show response to treatment in clinical trials.
The team is looking to extend their work on blood biomarkers in KAT6A mice to children and adults with KAT6A syndrome. In this project, they will measure a range of molecular compounds in blood samples from human participants with KAT6A syndrome, using untargeted metabolomic and proteomic analyses. They will compare the plasma profile of 50 KAT6A syndrome participants to the plasma samples of 20 participants without KAT6A syndrome. The aim is to identify biomarkers that are detectable in the plasma of participants with KAT6A syndrome, with the hope that these can be translated for use in clinical trials, as an objective measure of treatment efficacy as the community proceeds to clinical trials.
For more information about this research, please contact Sarah Donoghue at sarah.donoghue@mcri.edu.au.
Attention Researchers
ATTENTION RESEARCHERS:
The KAT6 Foundation is addressing a critical research priority raised by families—gastrointestinal challenges faced by children with KAT6A and KAT6B. This population experiences a concerning increase in mortality due to poor GI motility and perforation. Tragically, we recently lost another child to GI perforation, which has heightened anxiety and urgency within the community.
We are keen to better understand the factors that contribute to susceptibility to poor motility, bowel obstruction, and the risk of perforation in children with KAT6A and KAT6B. Equally important is identifying effective treatment strategies to address these serious issues.If you are interested in collaborating on this important challenge, please email the KAT6 Foundation at support@kat6a.org.
Learn more about Bowel Obstructions in the KAT6 Population.
KAT6 Foundation Reaches Milestone as First Funded Research Project is Published
We are proud to report that research led by Dr. José A. Sánchez-Alcázar and his team was published by Genes on November 15, 2022 in an article titled Pantothenate and L-carnitine Supplementation Corrects Pathological Alterations in Cellular Models of KAT6A Syndrome. This is an important milestone for our Foundation as it is the first research project that we directly funded to reach publication, and is an important step forward on the path to finding a treatment for KAT6 individuals. Development of surrogate models simulating KAT6A gene variation is the first step towards understanding the pathophysiological alterations caused by this gene variation. By outlining pathophysiological pathways, treatment model(s) addressing alterations in these pathways can be developed for testing.
Three individuals with KAT6A gene variation participated in the study conducted at Universidad Pablo de Olavide in Spain. An initial series of experiments generated evidence supporting the use of patient-derived fibroblast to study KAT6A gene variation. The team identified four critical pathophysiological processes altered by KAT6A gene variation: 1) Coenzyme A (CoA) metabolism, 2) Iron metabolism, 3) Enzymatic antioxidant system and 4) Mitochondrial function. Two compounds were identified to have a positive impact on the altered physiological pathways. These compounds are: 1) Pantothenate and 2) L-carnitine. Pantothenate is a CoA metabolism activator and L-carnitine is a mitochondrial boosting agent. Supplementation with pantothenate and L-carnitine supported the survival of the KAT6A fibroblast in a stress inducing medium. The concentration of pantothenate and L-carnitine varied in all three KAT6A cell lines suggesting that different type of mutations respond differently to these positive compounds. The KAT6A gene plays a significant role in histone acetylation which is a key process involved in cell progression and differentiation. Supplementation with pantothenate and L-carnitine resulted in significant increase in histone acetylation, recovery of gene expression patterns and expression levels of proteins affected due to the KAT6A gene variation.
We want to extend our sincere thanks to Dr. José A. Sánchez-Alcázar and his entire team for their professionalism and commitment to rare disease research and the KAT6 community. We look forward to building upon this partnership in the future.
Recap of KAT6A & KAT6B Virtual Symposium: GI Health and Beyond
The Gastrointestinal Health and Beyond in Children with Rare Genetic Variations was a 2-hour long, patient-centered, collaborative event organized by the KAT6 Foundation. It was designed to fuel conversation about the gastrointestinal challenges faced by children with KAT6A and KAT6B gene variations and enable open dialogue between families, clinicians, and researchers. The webinar provided a platform for the KAT6 community to expand its network and build connections with new researchers and experts working on tackling GI and GI related issues. More than 90 individuals registered for this event. On the day of the webinar, 20 families and 35 scientists attended the event. With some international representation, the majority of the families and researchers were based in the USA.
Dr. Tanya Tripathi, research coordinator of the KAT6 Foundation moderated three scientific presentations by renowned scientists – Dr. Sarkis Mazmanian, Dr. Gustavo Mostoslavsky and Dr. Richard I Kelley. Please read the summary of the presentations here.
Recap of KAT6A & KAT6B Virtual Symposium: Speech & Language
On March 24, 2022, The KAT6A Foundation hosted the second KAT6A and KAT6B Virtual Symposium. The event was designed to solidify the KAT6A and KAT6B research network of clinicians and researchers through identification of research gaps, opportunities and collaborations. The symposium series aims to drive patient- centered and collaborative research to improve outcomes for individuals with KAT6A and KAT6B syndromes. The symposium series also aims to spark new collaborations among the KAT6A and KAT6B research groups and healthcare communities.The first KAT6A and KAT6B symposium, conducted in 2021, discussed a range of neurodevelopmental challenges faced by children with KAT6A and KAT6B gene variations. The second symposium expanded on the stakeholder representation to include parents of children with KAT6A and KAT6B gene variations along with health care professionals, clinicians, and researchers. This symposium focused on understanding the impact of KAT6A and KAT6B gene variations on speech and language development, a domain that is most commonly affected in this population of children.10 speakers and nearly 60 members of the KAT6 community attended the the symposium. The symposium ran for three hours and was organized in two sessions: the first session provided an overview of the KAT6A Foundation’s goal to empower patient-centered research and initiatives led by the Foundation to support research. The second session focused on understanding the pathophysiology of KAT6A and KAT6B related speech and language disorders.
Please read the symposium recap pdf for a complete summary of each presentation. The next virtual symposium is tentatively scheduled in September 2022. This symposium will focus on unraveling the range of gastrointestinal difficulties faced by individuals diagnosed with KAT6A and KAT6B syndromes.
