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.

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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.

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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.

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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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As I am getting my son ready for bed each night I like to put some gentle music on in his room. Sam loves melodic tunes, familiar voices, songs that soothe.

For those who don’t know him: Sam is 35, non-verbal, exclusively tube-fed since he was a baby, severely limited from birth both physically and mentally. He learned to walk with a walker by about age 5, but by 15 he had fallen too many times and was afraid to stand up unless supported by someone. He communicates some needs and preferences with gestures and vocal utterances, and he also effectively expresses enthusiasm and protest. He confers winsome smiles and initiates hugs when he feels like it. If something is interesting he moves his wheelchair toward it. If it’s not interesting he propels himself away. I think he understands that he is dependent. He trusts us, his parents, and trusts those others who regularly occupy his time, whether as caregivers, close relatives, or friends. He clearly understands love. He clearly fears certain potential risks and is especially fearful of falling when he is briefly on his feet to transfer from one situation to another — wheelchair to car, for instance. These limitations are the reason Beth and I are the ones who prepares his bedtime medicines, get him into his nightwear, and tuck him in as his favorite gentle music plays quietly in the background.

It’s late September, 2025. Last night we were listening to Anne Murray as I was getting him ready for bed. And the song we were hearing as I pulled the covers over him before turning off the light, was “A Love Song.”

For those acquainted with Anne Murray, it’s the song that begins:

There’s a wren in a willow wood
Flies so high and sings so good
And he brings to you
What he sings to you

Like my brother, the wren and I
Well, he told me, if I try
I could fly for you
And I want to try for you, ’cause

I want to sing you a love song
I want to rock you in my arms all night long
I want to get to know you
I want to show you the peaceful feeling of my home…

For those not acquainted with Anne Murray, well, this is the sort of stuff she sings.

As I was reaching to pat his head before turning off the music, I heard myself quietly singing along with the refrain, and one line stopped me short: “I want to get to know you” echoed across the canyons of my consciousness. I let the song play out.  Then I stopped the music and said, as I always do: “Good night, Sam. We love you.”

I have seldom, even in Sam’s lifetime, been moved to tears. But, for me anyway, there was a message from God last night in those seven words, “I want to get to know you.”  For, even though he’s been in the core of my own life since the day he was born, and even though I’ve often wondered what he’s seeing — (he has “cortical visual impairment”), what he’s thinking, whether he hurts somewhere or is thirsty or hungry or lonely, I hadn’t, until last night, considered that it would ultimately be granted to me, by the grace of God, to fully get to know him. For — once we have both left this physical world, I, in the fullness of my time and he, in his — he will surely be able to tell me what it was like to be Sam.

It came over me that those who doubt the existence of God have no explanation for the roots of love. Error-prone as I am, how can I treat Sam with such tenderness and such longing to get to know him if there is no God, no divine origin of love? It would be a cruel creator who would let us yearn so much and not offer fulfillment. The words of Jesus in Luke 11:11-13 came to mind as I stood in the darkened house, outside his bedroom door, wiping my cheeks: “And what father is there among you, if his son asks for a fish, will give him a snake instead of a fish? Or if he asks for an egg, he will give him a scorpion? If you who are evil know how to give good gifts to your children, how much more certainly will your heavenly Father give the holy spirit to those who ask him?”

Rarely has Sam spoken in my nighttime dreams, and when he has, it has been only a word or two. On the night of December 26, 2021, though, he spoke much more, and it tore my heart out. In a dream that night, Beth and I were supporting Sam as he slowly and awkwardly walked between us. We began climbing the five front steps to the little house we owned before Sam was born. We had barely started upward when we realized there was a large, noisy, demanding crowd on the small front porch, their attention turned toward something inside.

There was no explanation in the dream for the presence of such a group, and whatever they sought, it was suddenly no longer inside the modest little home. They all stampeded down the stairs in pursuit of the attraction they sought, and they ran us over. The abrupt rush quickly passed, but the three of us, Beth, Sam, and I, were trampled.

In the aftermath Beth and I picked ourselves up and brought Sam to his feet. Gushing tears from the pained face of one who knows too well how it feels to be pushed aside, ignored, and left behind, Sam cried out: “I try so hard, to understand, to keep up, to do what everyone wants me to…” — and that’s where that mercifully brief nightmare woke me up.

I have seldom taken the trouble to put a dream into writing, but I quickly did so with this one and I still have that note.  For, that day back in 2021, I understood that I’d had a glimpse into Sam’s humble, quiet spirit.

Last night, though, after hearing the lyrics, “I want to get to know you,” I had what I felt was a promise. Not in this lifetime, but in that realm that some call the afterlife — in Paradise, in the our spiritual presence before God, I will get to know Sam. Perhaps I’ll get to know him as if I had lived inside his struggling, tortured body, as if I had felt the hope in his wishing heart, and as he has seen me, his father, through his flawed vision.

Sam, to you I say: In this life I can only imagine what it’s like to be you. In the next, I trust I will truly get to know you. It’s not what I want, though, that matters. I believe that you will get to know what it might have been like if you could have lived in this world free of the bonds of KAT6A syndrome. You deserve that much from the God who created love.

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Our KAT6 community is made up of many dedicated parents who advocate tirelessly for their loved ones. Recently, Kerrie, mother of a child diagnosed with KAT6A syndrome, was able to make a positive impact in her UK neighborhood for children with disabilities. Due to Kerrie’s perseverance, a playground in her local community is now more inclusive.

Kerrie says:

“We have a local park we take Woody to quite often. As he grew, we realized there were less and less facilities for him to use. As I visited more parks around Manchester, I noticed there wasn’t really any accessible playground equipment for children with disabilities.

This really upset me as a mother. Woody loves the swing and I strongly feel that play areas should be inclusive for all children.

I contacted the local council and didn’t get anywhere for a long time, but I wasn’t going to let it rest and eventually I met with a member of staff. We met at the park that we often visit with Woody and I asked her to have a look around. She agreed the equipment did not provide ample opportunities for children with disabilities and it wasn’t good enough.

She assured me she would do something about it and that other parks in the area would also be assessed. It took three years but we now have a swing for Woody and other children to use. I will continue working alongside the local council to ensure they follow through in their mission to provide more inclusive playground equipment for our children.”

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It was just a few days before Anna’s birthday and, after being in several different hospitals, we were about to receive the long-awaited answer. It didn’t seem true that we could name Anna’s problems after years of research.

What we did not expect was to be confronted with a rare genetic disease: the KAT6A syndrome. She was the 86th person in the world with that genetic variant. Our world suddenly fell silent, hearts stopped and everything went black. Bitter and sad tears, but Anna tried to comfort us by telling us that she had not cried. The doctors explained what they knew, provided support also why there is no cure or acceptable case history.

An uphill and uncertain path awaited us on the horizon. In the huge list of things to do we did a Google search: we found an in-depth description of Anna’s KAT6A syndrome! Thanks also to @pietrodurando’s suggestion, we also found the “KAT6 foundation” an American foundation that helps people and families of those living with KAT6 disorders. With a click we went from being alone to finding ourselves in a community with our same goals: the search for a cure and the improvement of the living conditions of our children, brothers and sisters!

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Our journey to diagnosis looks different than most, our journey to our boy also looks different. In the fall of 2019, my husband and I, had 3 small children and decided to take steps forward toward becoming foster parents. By springtime of 2020, we were ready to start our foster parenting classes, but the pandemic suspended in person classes. Eventually we ended up in the first zoom foster parenting classes the state of Missouri ever had. We had extra time in our licensing process, so we took the adoptive parent classes as well. Towards the end of our home study our licensing worker asked if we would consider becoming medical foster parents. Despite me telling her we had zero clue about medical children we agreed to adding medical to our license, but we never thought we would get a call for anything beyond giving simple medications!

Cut to October of 2020, on Halloween, we got a call for our first placement, a six-month-old boy was waiting in the hospital for someone to come. The first phone call didn’t provide much information, we knew he was g-tube fed, had delays, and desperately needed a safe home. We told the caseworker we didn’t know anything about tube feeding and she said we would stay over night at the hospital to train on his care. I expected my husband to say no, we already had 3 children under the age of six, this baby needed a lot of complex care, but my husband said yes and so did I.

The following day, we drove two hours to the hospital, so nervous, worrying if we could be who this boy needed. It made no sense, but it was right, a God thing. We had several phone calls with doctors and social workers between our first call and the trip to the hospital we learned the baby had a very long list of complex diagnoses. Entering his hospital room for the first time, laying eyes on him, so small, so frail, so alone was unlike anything I’ve ever experienced. My husband and I just stood there staring at him in silence, after a couple minutes my husband looked at me and said, “he’s with us now”.

We stayed three days and two nights in the hospital before bringing our boy home. During that whirlwind, we learned every aspect of his care, g-tube feeds, oxygen, suctioning, medications, physical therapies and so much more. They told us his genetic diagnosis, KAT6B mutation, no one caring for him knew what it was or what to expect long term. I googled it from the hospital room and read there were less than 100 people diagnosed worldwide. Flooded with instant panic, I stopped googling to focus on learning his day-to-day needs, until we made it home and I could do a deep dive into researching KAT6.

Our baby boy’s name was and still is Sebastian, we call him Bash for short. From the beginning his differences from typically developing babies were apparent, caused both from his genetic differences and the traumatic homelife he had lived in resulting in him coming into foster care. He was limp and stiff all at the same time. He was so underweight, failure to thrive, malnourished, dehydrated and treated for refeeding syndrome. His hair was falling out from lack of nutrition. He didn’t make eye contact; his eyes shook back and forth. He was terrified to be held, had an extreme startle response, and never relaxed in our arms. He vomited frequently. He was in survival mode just trying to recover. We had no idea what his baseline would eventually be. Slowly he began to trust us, we began to find a new normal, chaotic yet balanced routine blending our lives with his constant care and appointments. He gained weight, he began to inch alone in his physical therapy goals. We signed up for every intervention therapy we could find. The early days were so difficult and rewarding. Loving him was easy. Every day as his foster parents, we loved him as our own son, we had no idea how long he would be with us.  

As the ups and downs of the foster care system played out simultaneously with the ups and downs of medical parenting, we found the KAT6 Foundation and the Facebook parent communities. We leaned into figuring out all we could to provide our boy every resource he needed. When given the opportunities he needs he happily does the work required, he is so motivated. Having a support system of other parents living this complex medical life has been invaluable. He has never stopped progressing, intensive therapy programs mixed with daily interventions from his First Steps providers has propelled him forward. We have in home nursing, along with supportive extended family and community helping to make our little world go round. He works harder than anyone I have ever known; he is such a positive light.

Being a medical foster parent is an indescribable uphill battle. Just gaining access to his complete medical records took over five months, taking my child to appointments and not knowing simple information such as birth weight or previous surgery dates was so stressful, it shouldn’t have been so hard. We spent a lot of time catching up on appointments he had missed before coming into foster care, his schedule was jam packed every day.

Grieving a diagnosis is something I know parents go through. For me, in the beginning I immediately accepted his list of known diagnoses and only grieved for the situation he had been in leading to him being taken into foster care. As the months and years have passed, he has received additional diagnoses and I have grieved them. I don’t stay down for long, his positive perspective keeps me upbeat, living five minutes at a time is how we do life now. He has a lot of accessories, a list of medical complexities and yet, is my most easy-going child. Everyone who meets him is blessed by his calm presence.

After 505 days in our home, we were able to officially adopt Bash. I was so thrilled at the courthouse when our home nurse took out her tablet and charted, “Patient was adopted today”. We celebrated him with a big party with the family and friends who have supported us on this journey. Our family truly needed him. He has made us better parents, taught our older children a lifetime of compassion and empathy, and given our family the gift of living in the present. Every family should be so blessed to have a child like him.

Kristin Ross O’Brien

Sebastian’s Mom

Boonville, Missouri

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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.

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Sam was born in the summer of 1990, the year Beth turned 36 and I turned 40. We have two daughters who turned 14 and 11 that year, so Sam was a late arrival into the family. We would wait 27 years to learn that a de novo mutation of the KAT6A gene on one of his chromosomes accounts for his many early and continuing developmental deficits and mental challenges.

It is now 2021, and in cleaning out some old boxes recently I found a photocopy of a handwritten letter that I had sent to a friend in April of 1991 when Sam was not quite eight months old. A quarter-century later I don’t remember having written it, and yet, it’s the best account of his first few months that we could hope to find. Edited a little for brevity and with paragraphs numbered so I can refer to them afterward, I’ll let the letter speak for itself:

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Dear M___,

1) I’m surprised at how hard it is to write this. It’s easy when there is nothing much to say — when everything stays the same. But, in the first place, you’ve had some very difficult changes in the last year or so, and now we’ve had some rough and challenging times.

2) When your letter arrived in December we were having a struggle of our own. Ruth, our 14-year-old, had just undergone knee surgery in November to correct some damage done when she was hit by a car in July. She has congenital knee problems anyway and had already undergone surgery in the other knee two years ago…

3) Sam was born last summer and, unlike our two girls, he was 5-6 weeks premature. He lallygagged in intensive care for three weeks just to get the hang of eating and getting his body temperature regulated.

4) When we finally took him home we assumed everything was going to be fine. But, in November, we decided to take him to an ophthalmologist just to check his uneven pupil size, which he’d had since birth. We left the doctor’s office assured that there was nothing to be concerned about. Around the time your letter arrived in December we were saying to each other: We know he’ll be a little behind for a while for being premature, but at three and a half months old shouldn’t he be looking at faces?

5) We pondered this question for a week or so and then he distracted us by starting to have seizures in January. So Sam and Beth and I spent a week in various hospitals. We talked about writing to people then, but so far all we had to tell anyone was how uncertain things were with Sam and how confused we were.

6) We were back in the hospital for seizures later in January, then, in the first week of February, we took him to the developmental clinic at Eastern Maine Medical Center — something he was eligible for at six months of age due to being in neonatal intensive care at birth. We’re not naïve people, really, but we went to the clinic expecting to come away with a clean bill of health.

7) Up to this point the seizures had no known etiology. They had done a CT and an EEG, both normal. Two doctors said epilepsy and two others said breath-holding. At the developmental clinic in early February we were knocked down another notch: asymmetrical motor development, serious developmental delay, no muscle tone in trunk or limbs, and little if any visual tracking. They didn’t diagnose cerebral palsy at that point but that’s what it all suggested. Actually if that’s what he has — and it’s a kind of catch-all diagnosis — he may be a year old or more before they make the diagnosis because it’s so circumstantial.

8) The staff at the clinic is excellent and they have looked after us. Of course, he had more tests that day including another EEG. We went home with a bunch of literature and began reading it.

9) Then one day shortly after that I came home from work and Beth said she’d made a discovery: If she treated him as if he were blind and if she looked at his whole situation that way, it all fit. (I was the one who, in December, kept asking, Why doesn’t he look at me?)

10) And yet, he’ll fool you. He’s just as bright-eyed as any other kid. The ophthalmologist in November declared his eye structures normal and ought-to-function. And sometimes he seems to look.

11) We called the doctors back. Take him to Boston, they said. We did, a month ago, in mid-March — to a pediatric neuro-ophthalmologist. No visual activity, the Boston doctor said. He doesn’t see. The diagnosis, for the record, was “blindness, no specific degree.”

12) I had already been in touch with the state agency that deals with blind children, so as soon as we were home we contacted them again. And even though the Boston doctor said there’s no therapy for it, a teacher has started working with Sam and has showed us that he can see light (lights) and bright contrasts. Apparently, however, it’s very weak. The teacher disagrees about visual therapy — a classic disagreement between the medical professional and the laity.

13) So now, at seven months of age, we’re taking him into a closet two or three times a day with a blacklight, fluorescent posters, a flashlight, and a flickering bulb. We reward him when he turns his eyes to “localize” on a poster or bulb. We want him to reach for what he sees, so positive reinforcement is important.

14) That leaves us with the question: Is he developmentally delayed due to the blindness — he fits that possibility, or is he blind as part of a larger package of developmental problems? We may be a long time in finding out.

15) Sam is the only blind infant of record in the state of Maine right now. His teacher has about 16 other students in three counties, and I think there are over a dozen itinerant teachers in her field in the state. The other students range up to 21 years of age.

16) But none of this yet tells you what he’s like. In spite of it all, this boy is an absolute joy. He laughs at everything. He sits in his walker and feels the toys on his tray. A week ago he found one of his thumbs, so now the thumb is either in his mouth or cocked at the side of his head the way some people will hold a cigarette. He likes to test textures and definitely has some favorite toys.

17) Once we began to treat him as blind and to concentrate on teaching his other senses, he has made noticeable progress. He’s alert. He “talks” to his toys. He eats baby food and opens his mouth for the spoon.

18) He definitely knows his parents and his sisters, mostly by voice probably, but also by the way each one holds him and by the things he knows each one of us does with him. (I play rough. He splits a gut at things like “falling down” and “don’t bump your head,” playing “boo,” and such.) He doesn’t quite sit alone, but we think it’s coming. Since the developmental clinic in February he’s had a physical therapist as well. And he responds to her well. He wants to please us.

19) He listens intently all the time and loves certain sounds. A tinkling bell gets him laughing or smiling. Music is magical. He loves it when someone whistles. Certain of his rattles are his favorite toys, and he can locate and pick them up from a tray in front of him.

20) He’s enormously popular whenever we take him anywhere — with his thick, curly black hair he’s the most handsome boy most people have seen in a long time. He’s around 18-19 pounds and can pass for someone much younger. It gets awkward at times, though. Strangers are caught off guard because he doesn’t appear to be delayed or blind.

21) Ruth is recovering from the latest knee surgery but her surgeon thinks she will always have problems with it. She can forget about high-impact sports. Leigh has braces, plays junior pro basketball, and generally has a very good life. (Classic middle child?)

22) Leigh and Sam are constant companions. A little too constant at times, but I try to do a lot with him to relieve her of his presence.

23) Beth and I are scheduled to go to Ogunquit April 26-28 (without kids!) on a weekend retreat for parents of handicapped children. Your tax dollars at work at last!

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COMMENTS

Sam’s Sisters
Paragraph (2) mentions Ruth’s knee problems. She is 45 this year and is finally facing the prospect of knee replacements, both knees. But she has led a happy and fulfilling life on her original knees up to now. Sam’s sister, Leigh, now 42, is the mother of two little girls that Sam adores. By the time she was 13 or 14 Leigh knew that she was going to make a career of educating special-needs children. She went straight for it as soon as she finished high school and now holds two masters degrees, in psychology and in applied behavior analysis. In her work she is a consultant in the school systems around Bangor, Maine.

Cortical Visual Impairment
In Paragraph (4) of the letter, and then resuming in (9) through (15), I discussed Sam’s apparent blindness. In 1991 we had no idea that there was such a thing as cortical visual impairment. Coincidentally, in 2018 and near the time when we first learned of CVI, I read a book, Crashing Through, by Robert Kurson. It’s the story of a man whose corneas had been destroyed by a chemical explosion at the age of three.

Decades later, in the 1990s, he was a completely blind husband and father in his 40s, fully content and successful in business, when a friend who was also a doctor suggested he undergo stem cell transplant surgery in an innovative procedure to restore his vision. Since his lenses and retinas had not been damaged in the accident, the prospects for success were good.

The surgery was successful. However, even after months rolling into years of rehabilitation, his brain failed to make any useful sense of the information his eyes were providing. He could discern general shapes and motion, and he had sharp visual acuity, but he could not make sense of printed words or tell one face from another. After months of rehab he could still not recognize his own wife’s face.

The point is, in his early development after the accident at age three, in the absence of eyesight, the man’s brain had repurposed his visual cortex for other functions. The new neurological input from his optic nerves simply did not compute.

This man’s story gave me considerable insight into the problem of cortical visual impairment. When Sam was around three years old he had a visual evoked potentials exam. Electrodes were attached to the back of his head to record brain responses while the technicians applied visual stimuli such as lights of various intensity and duration. The impulses had no effect — they did not reach the visual cortex.

This is even more confusing, because by that time we could tell that Sam could see, in a way. Evidently — and we’ll never at this point know how — visual information provided by his optic nerves is going to a different area in his brain than normal. As one doctor at the time suggested: Visual impulses are going to his brain’s auditory center, auditory signals are going to his olfactory center, and so on. This is just a hypothesis, of course, but if he is smelling sounds and seeing odors then that could go far to explaining his strange reactions to stimuli.

We know that Sam can see something. We call him Rocket Arm for his ability to suddenly reach out and grab an object in his peripheral vision. And that points to a couple other aspects to the mystery. For the rest of us, our center vision is processed in a different part of the brain than our peripheral vision. The brain then coordinates the two and, as we know, erects the image which is presented upside down on our retinas. Sam’s peripheral vision may in fact be normal if it is processed like anyone else’s. It may be only the optic nerve impulses from his center vision that are processed in the wrong area and are not understood as visual, leaving him impaired. He rarely looks directly at anyone or anything. And apparently he has no depth perception. Is the image, if there is one, from the center of his vision perhaps upside down as well?

Seizures
In Paragraphs (5) through (7) I wrote about seizures. I made a short video of one seizure when he was a few months old. He is crying fiercely while lying on his back. As any baby does, he expels air during a long, silent pause. Normally a baby then inhales a great lungful and then wails again, but in the video Sam just keeps expelling (or holding on the exhale) until he apparently passes out. Up to then, as he cries, his hands are in fists, his arms and legs are extended, and when he passes out his legs stiffen as his arm curl toward the front. Each time this “seizure” happened he would pass out for at least a half hour. After a while he would either wake and cry some more, wake and seem confused, or simply remain asleep for a long time, breathing normally.

The seizures weren’t frequent — not daily, for instance. They would happen during a spell of intense crying, as if he were in intense pain. But from what? While the seizures weren’t a daily event, something did seem to cause him severe pain daily. He would be resting happily in a baby seat and all of a sudden he would utter a piercing shriek and begin crying as if he’d been stabbed. We were able eventually to associate the sudden pain with GERD, or gastro-esophageal reflux.

Gastro-intestinal Distress
Little did I realize in April, 1991, when I wrote this letter, that only two months later Sam would be having a consult for reflux and a GI series at Maine Medical Center. Shortly after that consult he was admitted for surgery to correct a malrotation of the duodenum, the first section of the small intestine just after the stomach.

At the age of 10 months, then, Sam was released from the hospital with a nissen fundoplication — creating a one-way valve between the esophagus and the stomach, and a gastrostomy. The fundoplication prevents reflux but also prevents air from coming back up. In other words, he can’t burp and can’t vomit. The gastrostomy permits venting air from the stomach through a G-tube and has permitted feeding him a liquid diet ever since. For years venting and feeding was a constant, full-time occupation for one or both of us.

For a few years Sam tolerated baby food but eventually refused it altogether. We pumped Pediasure into him through the night for several years until he could take all his sustenance through the tube by gravity feedings. Since his last taste of baby food as a second- or third-grader he has been entirely tube-fed, graduating from Pediasure to Jevity as an adult.

Sam has been back in the hospital many times and has had followup surgeries for a volvulus, a repair of his nissen fundoplication, a pyloroplasty — a severing of the sphincter separating the stomach from the duodenum, and other gut-related problems. He has been pretty stable in that area since reaching adulthood, though.

Sitting and Walking
In paragraph (18) of the letter I mentioned sitting. I also touched on his laughing and added that he had begun seeing a physical therapist. By age two or so he was crawling, but before long his preferred mode of propulsion involved sitting and scooting sideways by raising himself on his hands. He would take the weight off his butt and drag his legs while pulling himself along sideways with both hands at once. (He still does this now and then and can move quite quickly when motivated.)

In time, the physical therapist working with him insisted that he should practice walking like anyone else. So by age four or five he was using a tiny walker that wrapped around behind him. It had cogs to prevent it from rolling backwards, and so as he walked we would hear the clicking of the little metal tabs that lay behind the rear wheels and engaged the cogs.

Sam wore a helmet (willingly) whenever he used the tiny walker. He won’t wear anything on his head or hands any more, summer or winter, and also refuses a mask. That makes it difficult in situations now, such as doctors’ offices and hospitals, where there is zero tolerance for non-compliance.

In his younger years we attended a local church regularly, all of whose members doted on the skinny, ever-smiling little boy. We’ve since moved to another town, but in that first church Sam became accustomed to the routines, including the weekly trip to the communion rail, where he would always stand for the priest’s blessing. One Sunday morning, when he heard the usual sequence of music and activity leading up to communion, Sam stood up in the pew, halfway back in the church where he was seated next to the center aisle, reached for his walker, and, for the first time, walked the length of aisle by himself. Everyone else was still seated. The front rows had not even begun to move to receive communion yet, but Sam was on his way. We let him go, and he slowly click-clicked himself the entire distance without stopping. The congregation remained silent through his procession, but there was literally not a dry eye in the house. Our priest responded appropriately, and it has always been about the most poignant moment for us in Sam’s life.

From kindergarten through about fourth grade Sam did walk in order to get most places. He always had a walker of some kind but could let go and take several steps unaided. By the fourth grade, though, he had begun to regress to needing the walker full-time. Two factors seemed at the root of this turn-around. He was growing tall enough that his center-of-gravity had shifted more from his hips to his chest and shoulders, and he had begun to fall more often. One fall at school was particularly dramatic, resulting in an E.R. visit and sutures in his head. Around the age of 11 he began suffering bone fractures due to slips or falls, due to osteopenia and later, osteoporosis. With reduced time on his feet after that, along with hypotonia and related delays in his physical development, he now lacks the strength in his legs to remain steady while standing. He gets around mostly by wheelchair and walks with assistance primarily to transfer short distances.

Music
What amuses Sam is often something generally pleasant enough in itself but not what anyone else would consider funny. So when he suddenly laughs, it tickles us that he did, and so we laugh with him. He does like pratfalls and slapstick, exaggerated play and pantomime, gross noises and gentle teasing, as long as none of this startles him. As a toddler he seemed frightened by the sound of paper bags, for instance when we would be unpacking a load of groceries. He overcame the apparent fear eventually, but the crinkling of heavy paper still excites him. We would often give him a large empty bag to crinkle himself, and when he was in his teens he would utterly destroy it in the span of half an hour.

Music is magical, I said in paragraph (19) of the letter. With my own intense background in classical music I have often played for him my favorite melodic pieces. Sam listens to any kind of music, but he sometimes “sings” along with a piece that pleases him, and there are several songs which, we have learned, will trigger a deep emotional response in him. Some, which have affected him since earliest childhood, almost make him cry (although his crying is not a teary-eyed sobbing).

Sam is a good rider in the car, which has made it possible for us to take several cross-country road trips (before the pandemic). We haven’t taken him on a commercial flight since he reached adulthood, but he was a good flyer. The security procedures since 2001 have made it impracticable to fly with him. I think 2005 was the latest year in which we attempted it. Before then, though, he had flown with us to Florida, Aruba, and Ireland.

In the car, if we forget to turn the radio on, he will let us know from the back seat by clapping his hands. When music is not playing and the TV is not on Sam sometimes makes his singing sounds when he is most happy — that is, he makes a sweet, high-pitched and sustained squeaky sound with his voice. He will sing while sitting beside one of us and holding our hand. He doesn’t normally like to be hugged but will sometimes accept a hug and sing with it. He often briefly sings alone in his bed right after being tucked in for the night. We cherish these times. They confirm that all is well with him for the moment.

Sleep
Not mentioned in the 1991 letter but related nonetheless, it’s necessary to mention that Sam sleeps poorly, as if the neurological pathways and hormones to promote sleeping have not developed in him. He would never take naps in the daytime, right from birth. One evening, at around age five, he became so afraid to lie down and so terrified to close his eyes that he stayed awake for two weeks straight. He could not be cuddled or consoled throughout this time. He crawled from room to room day and night. He refused to sit in one place. We could not lay him on a couch or a bed; he merely fought it and cried.

All through the daytime he might be calm at times but wary. As darkness began to fall every evening he became agitated and frightened again. At one point during this period he was in intensive care at the local hospital and was given ten times an adult dose of valium, which had no effect.

Our daughters were old enough to carry on independently and did so, but Beth and I had to take turns sleeping, because one of us needed to stay up all night with Sam.

The whole thing resolved as abruptly as it had begun, but with the residual effect that Sam has never since then been interested in sleeping and needs a sleep aid every night to ease him out of consciousness.

Speech and Language
At age three Sam was diagnosed with autism. His behavior was then and remains consistent with the diagnosis. In the early and mid-1990s it was a diagnosis that assured as much attention as possible in school. After his third-grade year we moved from one small town deep in the Maine woods to another. Both school systems were terrific about addressing his needs, although services did not come without a great deal of advocacy and participation on our parts as parents.

From his pre-school years through several years of grade school Sam had a speech therapist. He makes many vocal sounds, some of which have meaning which we understand — hoots and groans and gentle tones, but as for speech, he never succeeded in anything more than an accidental syllable now and then. Therefore we included training in early versions of touchscreens that gave feedback. He does seem to distinguish images and color zones on a touchscreen but still makes mostly random taps in the areas that will give feedback.

He also made progress using PECS — a picture exchange communication system. Used mostly at school, he was taught to exchange a picture of something or someone for the actual object desired or person being discussed. Two problems impeded progress with this, though: his visual impairment in distinguishing between photos, and intent, which is to say, if he didn’t want it in the first place, why ask for it with a picture?

And we included lessons in American Sign Language in his early speech training. From ASL Sam did pick up one sign, which he has adapted to many uses. The sign for “more,” touching the fingertips of one hand against the fingertips of the other, is now his sign for “yes” and “I want” and “give me.” It is his sign for anything that affirms a desire for something but is now simply a clap of hands, but it means he wants something, even something that hasn’t been offered, such as music in the car while riding. He does respond to the sign for “no,” which we still use with him sometimes.

Sam has phenomenal hearing and uses it over his other senses. He pays attention to conversation in other rooms. If he is sitting on a couch, he regularly lies down flat as soon as someone in another room touches one of the items used in his six-times-a-day feeding routine. We aren’t even aware that we have made a sound, but he has been listening for it.

His receptive language is very good and even though, with autism, he often chooses not to comply, he knows what we are asking of him. He gets excited when we mention that his nieces are coming to visit, for instance, and he responds appropriately, although sometimes to our amusement, when we verbally put choices before him.

So Much More
I meant for this article to cover the 1991 letter and the topics that it raised. There is so much more about Sam that I could expound upon here, but maybe those thoughts are better saved for another time.

Where Sam is in his thirty-second year, from our present viewpoint all that we went through in those early years is terribly compressed. Beth and I held ourselves together somehow, as two survivors of a shipwreck might bear one another up while grasping for flotsam to cling to. Nothing else mattered when we were dealing with his care and needs early in his life, although I did need to hold onto my job.

Sam was unique — within the small towns where we lived, within the experience of our insurance plans, even within the state. When he was two, Beth was appointed to the Maine Developmental Disabilities Council and within a couple of years was elected chairman, a position that she held for a few years after that. We — especially Beth — became resources to other parents of special kids, parents struggling with insurance and school systems and medical resources. We have always had good family and community support systems ourselves.

By the time Sam was six years old we had begun taking special needs foster children, some of them for years at a time and mostly two at a time, and today we remain guardians of one, living nearby, while another is raising a family just around the corner from us. Both of those girls have been Sam’s sisters for more than twenty years now.

We live now with our own version of PTSD, partly from the foster parent experience I suppose. We love our children and feel especially protective of the ones who don’t have their own “bootstraps.” We are scarred and hardened and pretty intolerant of institutionalized ignorance. We’ve had to educate doctors and bureaucrats and we’ve encountered plenty of quackery along the way. Throughout the past decade, though, we have been blessed to be working with a team of outstanding doctors, agencies, and professionals even given our remote location.

We adapted the house that we have lived in since Sam was ten years old by adding a suite for him and making the house fully accessible. At 67 and 71 Beth and I remain healthy and vigorous, even as we deal with some common effects of aging such as coronary artery disease and stents, glaucoma and macular degeneration, and relative isolation in a splendid forest wilderness. Looking back, I can say we wouldn’t have it any other way.

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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.

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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

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

Purchase KAT6 and Me

"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. 

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/

#RAREis^TM 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.

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.

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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.

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!

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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.

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Download Article

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.

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.

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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.

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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.

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.

‍

Download Article

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.

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.