Our daughter was born on the 1st Februrary 2009 in Son Espases University Hospital, Palma, Mallorca.

She was a 36- week baby, very tiny for her age since it has been diagnosed with slow growth in the last months of pregnancy. She took long to be born and was immediately taken to intensive care were she spent the first 50 days of her life.

There, she was taken extreme and loving care by devoted doctors and nurses and we discovered how dedicated this job is. We took her home on Father’s Day ( 19th March), so as we took a bed sheet from hospital, as advised, it was a lovely little present.

We will always remember her regular visits for checks-ups and tests during the first year of her life. She felt such at home in every hospital visit that her face changed every time we entered the foyer and she smelt the care she had been receiving so far.

First days at home were not easy, she had to take many pills to regulate her kidneys and heart function and took a special milk in the bottle for she was allergic to the milk protein.

Little by little our little warrior took forces and started to eat bigger quantities and feel more relaxed. It took some years and a special therapy ( Votja ) to stop her screaming constantly and sleep tight, also to open her hands and relax since she suffered from muscular hypertonia and was always nervous and not connected to this world. For the first year in her life she was folded on her hips and spine as a ballerina in the shape of a ball.

She has had three operations and is waiting for a fourth one to be done on her spine since she has severe scoliosis. Although these operations have contributed enormously to a healthier life style,they have been the scariest waiting time in our lives. First operation, at 6 months, was a heart operation to close her persistent ductus. Second operation was to contribute to better vision ( she was not able to look completely from both eye sides) and third on her teeth (cavities and hygiene).

At one year and a half she went to the same private nursery school as her brother. She had a lovely time there with babies who were about 6 months younger than her. She enjoyed story telling , celebrations and nursery rhymes.

Later on she attended a special needs unit in a state nursery school and at four years entered the special needs school she goes to now. We are very pleased with the school and give thanks for her progress to all speech therapists, physiotherapists , teachers and other professionals that are on her side day by day. She feels really happy there, it takes her long to wake up every day, but by the time she gets to school she starts smiling and forgets it all.

Victoria is a loving, cuddling, cheerful girl who loves music, swimming, horse therapy. She loves her brother, her family, going out for a walk, attending or having parties, swimming, embraced dancing and being on a swing. She loves speeding especially on the motorway or when taking off). She has improved a lot in the last year and is much alert, but she is dependent 100% on an adult in every day tasks since she cannot walk or speak.

She’s being taught to feed herself, she can mount her special chair with help and switch on/off lights. At present we are focusing on walking and improving speaking. As for the first, she is not able to stand, but has the walking pattern and is eager to walk. Related to speech therapy we are using an alternative system of communication (Grid 3) with the help of an eye tracker (Tobii 4C).

She was diagnosed with KAT6A about 3 years and a half before. We do not know where she can get, but have faith in the future and, as a family, want the best for her.

She’s taught us many things such as the power of love, being patient and to be positive and smile to the future.

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Mi reloj tiene un duende“Lo mismo que me sorprende que un oficinista de banco nunca se haya comido un cheque, asimismo me asombra que nunca antes de mí, a ningún otro pintor se le ocurriese pintar un reloj blando”.(Dalí sobre su cuadro ”La persistencia del Tiempo”)Hay una exagerada tendencia a creer en la ciencia, sobre todo desde que la gente comprueba que la aparatología es maravillosa. Antes te sometías a una colonoscopia en vivo y, además de la escena, estaba, aterrador e insoportable, el dolor con sus garras. Ahora te haces una siestecita y lo primero que aparece entre las brumas de la ante vigilia, es el rostro sonriente de tu médico, que ya es un amigo.Georges Braque, el pintor, decía: “La ciencia está para dar seguridad, el arte para turbar”.La ciencia, a palo seco, se convierte en una fábrica, pero de repente, aparece alguien como Steve Jobs y es como si entreviéramos la silueta de Leonardo. Entonces la ciencia despega, porque hemos añadido el genio.El físico estadounidense David Wineland y el francés Serge Haroche ganaron el Nobel de Física 2012 por “sus innovadores métodos experimentales para la medición y manipulación de sistemas cuánticos”. Su trabajo ha permitido conseguir relojes mucho más precisos y dar importantes pasos en los ordenadores del futuro.¡Aja!…eso si que le va a gustar al personal. Nos hemos pasado toda la historia de la humanidad tratando de ser los autores del cambio de su curso, o sea de manipularla.Todos imaginamos que un reloj diseñado por Wineland &Haroche, en la vida frenética que llegamos será fantástico: si te quedas sobado una mañana, y al llegar al Metro el tren ya ha partido, entonces: toque al reloj, el tiempo retrocede y tu pillas el vagón tranquilamente y encima te sientas.Aplicado a las citas es genial. Quieres seducir a es@ chic@, y en el japo de moda no hay mesa. Disimulas y ya estás bebiendo la horrible cerveza aguada que es lo peor de los Restaurantes Japoneses. Asimismo, podremos volver atrás para callar las palabras que no quisimos decir, o ver la vida desde el lado del otro (muy recomendable); conocer a los parientes que murieron antes que nosotros pudiéramos tener uso de razón; dar ese beso congelado, pedir esas disculpas que nunca llegamos a dar… Y ¡tantas cosas!.Sin llegar a eso, ni a los relojes blandos de Dalí, pura metáfora, yo estoy convencido de que en mis relojes habita un duende.El mío es siempre el mismo. Si me pongo uno u otro reloj, le obligo a cambiar de habitáculo, y es evidente que no en todos se encuentra igual, porque adapta las horas que acaban siendo mi tiempo, según le apetece. Por eso tengo días en los que los minutos en su devenir, se arrastran como pesadas sombras que recorriesen largos pasillos de mansiones victorianas. A veces, todo va muy rápido y sincopado pero en algún momento se encasquilla. Es un tiempo seco y tartamudo, de cartón y poliestireno expandidoTengo muchos relojes porque me gusta el diseño, pero ni el más caro supera los 100€. Uno de los más queridos me lo regaló ella: Victoria.Creo que lo debió hacer porque llegaba siempre tarde a sus fiestas de cumpleaños. Se trata de un reloj de sobremesa, que parece adecuado para indicarme:– ¡venga!, ¡comienza a arreglarte!La primera sorpresa es que se abre como una lata: tirando de una anilla como si fueras a merendar pâtè con pan de molde, aparece la esfera convencional de un reloj vintage. Luego resulta, que además es imantable, o sea que se adhiere a superficies metálicas para que puedas llevártelo y fijarlo.No sé si serán imaginaciones mías, pero es el favorito de mi duende. Creo que es donde hace la siesta cuando yo la hago, y duerme en las horas de mis sueños…Con este reloj, los días se deslizan como cucharadas de miel en una primavera fría. Las horas caen como pétalos de flor de almendro; los minutos como copos de avena; y los segundos como gotas de lluvia breve, un perfume inventado por mi abuela al que llamaba “Lágrimas de Abril”.De noche ese reloj hace ruiditos como si el duende se levantara a comer rosquillas de anís, a hacer pis, o a mirar si duermo. Pero ahora el que no duerme soy yo, que miro si el duende da señales de vida y…no sé… miro si tiende la colada o sale a fumar a las 3, sentado en la manecilla pequeña, o cosas así.De repente, las manecillas, entonan un tic tac tic tac que se asemeja a una carrerilla que viniera de lejos.  En ocasiones, ese ruidito rítmico, va “in crecendo”. No es mi duende porque él es discreto y silencioso; pero como Victoria asiste a clases de hípica, pienso si vendrá ella a verme, al trote de su querido caballo, y me pegunto si llegará, de carnaval, gitana de sol y luna con la bata de cola, con alegría de cascabeles en las crines de su montura, y de lunares rojos en sus zapatos de baile, que llevan prendido con zambra, el taconeo embrujado del flamenco.Taca,tacataca ¡tac!.Jaime Roig de Diego

Camden’s journey began twenty-four weeks before taking his first breath of fresh air. After a long family move from Kentucky to Washington State, it was brought to our attention during an ultrasound that Camden had a congenital heart defect known as Tetralogy of Fallot. We knew that within months Camden would need to have open heart surgery to correct the defect. Our family had no idea that this would only be the tip of the iceberg for years to come.

Camden Rau was born on February 9, 2015 via emergency C-section at Madigan Army Medical Center. Immediately after birth, he was sent directly to the NICU. When I followed Camden’s medical entourage into the NICU, I noticed something very strange. Camden’s head was extremely tall and elongated while having a very obvious skeletal deformity from his forehead to the back of his head. It was determined that he had craniosynostosis, which is the premature fusing of the bones in the skull. With these two serious issues identified, the Geneticist told us there was a very good possibly Camden had a genetic disorder, but it was too early to tell which one based on symptoms alone. So we waited.

One month later, Camden had his first open heart surgery at Seattle Children’s Hospital. He had a very rough recovery and spent approximately five weeks in the Cardiac ICU. Once he recovered, doctors then began to focus on Camden’s other issues. With sights set on a very evasive skull surgery, doctors agreed that Camden needed a G-Tube to eat because he was failing to consume enough calories by mouth. They also determined he would need to have another heart surgery to close a hole before the craniosynostosis repair to reduce the risk of brain damage and stroke. At nine months old, Camden finally underwent a full craniosynostosis repair from ear to ear to fix the shape of his skull and allow his brain to grow appropriately. After the skull repair, Camden’s blood oxygen levels could not stabilize and he required oxygen until he was approximately eighteen months old. We continued to wait and search for answers.

After the surgery, our family moved once again to Cleveland, Ohio. Camden was almost two. He underwent two eye surgeries in Cleveland to fix his droopy left eyelid to prevent him from going blind. We are extremely grateful that we moved to Cleveland for that short time because that is where we were able to conduct our genetic testing. While waiting for the results, the Army relocated our family to San Antonio to receive more efficient health care for Camden. During the move from Cleveland to San Antonio, we found out that Camden had the KAT6A Genetic Disorder. Our search for the cause was over, but what were we supposed to do now? There was very little research and doctors told us very little because they didn’t know anything about it. It’s at that point we were able to connect on the KAT6A support group on Facebook to get some answers.

This was such a relief to finally understand what issue has caused our son to experience all of these conditions, surgeries, pain, and suffering. Finally! Some kind of proof to show doctors who made us feel like terrible parents by saying our son was failing to thrive, accusing us of not feeding him enough, and constantly bringing up the percentile chart for height and weight to emphasize we are not doing our job. It explains why our son has never spoken a word and why there is a good chance he never will. It explains why he has so many physical issues. It explains the cognitive delays. It explains the brain damage. It explains why he is so tiny. It explains the constipation. It explains the poor muscle tone. It explains everything.

Just because we have come to terms with reality and have some answers does not mean we have given up hope. Camden is the definition of resiliency; bouncing back from everything life has thrown his way. Every day we wake up thinking this might be the day he says a word, or the day he can finally eat a normal meal, or that he will somehow overcome a physical obstacle he’s been dealt.

Camden has been the biggest blessing in our lives, and he has touched the lives of so many without even saying a word. He teaches us to be patient, loving, and selfless. He lights up every room that he is in with his amazing smile, caring nature, and his personality. He loves his mom, dad, big brother, and dogs. He has to emulate everything his big brother does, and then some. He loves sports, balls, trucks, cars, hitting keys on the piano, and watching the whales and fish at Sea World. He walks on his own, but he requires ankle braces to stabilize. He loves to jump on trampolines. He utilizes speech therapy, physical therapy, and occupational therapy each week to help overcome his deficiencies. He does communicate vaguely by pointing and using basic sign language skills, and he eats strictly through a feeding tube.

Recently this past week, Camden was forced to undergo yet another open heart surgery to receive a Pulmonary Artery Valve replacement. This surgery was supposed to happen in his late teens or early twenties, but his right ventricle was four times the normal size and the valve was leaking forty percent of blood being pumped to his lungs. Unfortunately, this will not be his last open heart surgery. The valve replacement typically only lasts two to ten years, but we will always expect the worst and hope for the best. He also had to undergo another operation today because his surgical site was infected, but we are looking to leave the hospital within a week or two.

Thank you for taking the time to read about my son.

We are honored to be Camden’s parents and very proud of everything he has accomplished so far in such a short amount of time.

We are happy to be a part of the KAT6A family.

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Mothers Day 2018.

33 years ago I was about to give birth to my first child, who ended up being born on Memorial Day, 1985. I originally went into labor two days earlier, but a trip to the hospital with irregular contractions resulted in returning home “to wait” Two days later, still no regular contractions, almost two weeks overdue and exhausted, it was decided to induce. I thought at that time parenthood would be the easiest job I ever had. First mistaken notion.

“Warren” came out after a difficult delivery, very depressed. His first Apgar was a 6, but his second a 9. They rushed him off to the nursery and had the neonatologist follow his care. He was “floppy”, had a huge startle reflex, was very sensitive to touch, would nurse for a few minutes and then fall asleep, but after 3 days they released him as an “essentially healthy infant”. I thought everything was fine. Second mistaken notion.

He was a challenging baby. He never, ever slept more than two hours at a time. Never nursed well, we had to supplement after a week when he continued to lose weight after coming home. He had terrible reflux, would spit up through his nose; he was slow with motor development. The startle reflex continued. If I walked from a dark room to a lit one with him, his whole body reacted. Still, he was sweet natured (still is) and was gaining weight and at 3 months the doctor said he was doing great.

Then he had his first DPT shot. That night his fever hit 105. He laid on my chest for three days and hardly moved. At my pediatrician’s insistence he never received any part of the “pertussis” vaccine again (actually none of my children did). I don’t think the vaccine caused any of his disabilities – but maybe opened a door to let what was lurking there in a bit sooner, and more strongly. This is just my opinion, and most professionals will tell me I’m crazy, but they weren’t there.

When Warren wasn’t walking by 18 months, and barely crawling, we started our first round of visits to Children’s Hospitals. There I was told – and I swear to God this is the truth – “You definitely want to go through genetics because you wouldn’t want to produce another one like this” and at the next visit – “don’t fret, I have parents of gifted and talented children who don’t know how to raise them either”. Third mistaken notion – the experts know best.

We received the diagnosis of “developmental delay” – Fourth mistaken notion – that delay meant late, but just like an airplane it would get where it needs to go eventually. I did not know it was a euphemism for “we don’t know what is wrong with the child, but things don’t look good, and might never”.

Years go by – we run all the tests, nothing comes back with a reason for the “delay”. We end up with a diagnosis of autism at age three and the pronouncement by many experts that this would never happen again….and so my daughter was born. She was the complete opposite of her brother, walked at 9 months, had words at a year (Warren has never spoken one word to this day). All the doctors and friends assured me she would be fine. And so her two brothers followed. And then she started getting “weird” – perseverating on objects and actions, single words never turned into sentences. At age 4 she also joined the ranks of special education. Side bar here – Emily has been diagnosed with what is very clearly autism – and manifests some bipolar tendencies, but does not have KAT6A – which surprised the doctors. Her brothers are neurotypical and doing well.

Warren learned to walk, for awhile he was successful with limited sign language, but his fine motor skills have always been very poor. I was the only one who understood his signs and they were limited. After two years on baby food he started eating solid food, but to this day, refuses anything highly textured. His weight, even now, is a concern. At 5’8” he has never been heavier than 158, and now is 143 pounds.

Over the years there have been a number of medical problems – he developed aerophaghia – air swallowing. There is no treatment and it can be fatal. But thanks to some wonderful therapists and doctors we got this under control. His motor skills led to a diagnosis of mild CP. He never outgrew his strabismus. But he enjoyed school, became somewhat independent, but the combination of his disabilities meant he could never master his personal care skills independently. He still has toileting accidents occasionally, needs to be fed, dressed, bathed, but he does cooperate and assist with all of these, and he is ambulatory. On the surface, judging by his skills, Warren would seem to be very cognitively impaired. But there have been some things he has demonstrated that clearly indicates his understanding of things is far higher than appears.

And then at age 9 the seizures started. Nothing helped. They were called partial complex seizures and he did not convulse, but it was more than just the staring of absence seizures. Eventually, a brave neurologist tried a new medication that had just been approved in the US, but had been used in Britain for awhile – Lamictal. That, with Topomax, stopped the seizures for several years. But, they did come back, and this time as grand mal seizures. We have tried every combination of medications, and we went through periods of calm, only to have them come back in clusters. Last fall he had a Vagus Nerve Implant, which was a very difficult adjustment, but now seems to be helping. One seizure since January.

We raised all our children at home – under circumstances at times that were harder than anything you can imagine. My daughter’s autism manifested itself with aggression and violence at times, but with the help of incredible staff, and wrap around services, our family stayed in tact.

I had wanted Exome testing done since the first time I heard about it. I wanted to know why this happened to us, and was sure there would be a diagnosis that applied to both Warren and Emily. However, my insurance would not cover it and it was impossible for us to afford. I had applied for the Autism Speaks credit card and charged everything I could so that they would receive 5%. One day I received a phone call that they were sponsoring an Exome study at NIH (around the corner from me) and we would be able to get the Exome testing for free – was I interested? Of course I was. Sign us up! And then they said, if Emily and Warren could not give “informed consent” then they were not candidates.

Mistaken notion 5 – I thought we were all in this together. Bless my dear friend who works for a genetics company who was able to arrange for our family to have the sequencing done for what the insurance would cover. When the results showed that Warren had KAT6A, but Emily did not, it was a blow. Things were just getting rolling with KAT6A and Warren was, and I think still is, the oldest person diagnosed. Many became interested and asked to use him in studies and publications and we readily agreed. Here was one answer as to why this happened, and it wasn’t hereditary, and it wasn’t caused by something I did. All good news.

Over the years I can’t begin to tell you the things my husband and I tried to “find the cure” – some ridiculous, most expensive, all bringing marginal change. Warren to this day is a lovely young man who loves music, movies and pretty girls, but he requires a lot of help. I was warned that other KAT6A families might seek me out to know what the future of their young children would hold. I know what it is like to think that if you keep trying, one day you will find the answer to what will help your child. I have been fearful that if I revealed the extent of Warren’s limitations it would not be welcome information to these families. I have purposely stayed in the background.

But that doesn’t mean I’ve turned my back on things. I confounded a nationwide organization called KEEN (Kids Enjoy Exercise Now) that provides free recreational opportunities to children with severe disabilities. I have served on Boards and Commissions serving the disability community at my county and state level for 20 years. I initiated and chair a Developmental Disability Advisory Committee. My work at this point is devoted to improving the quality of life for the developmentally disabled.

Three years ago Warren and his sister moved into residential settings. They live in side-by-side townhouses ten minutes from our house. They have roommates and round the clock staff. They work and play in their community and we see them every weekend. It is a pretty good life for them, and at age 63 and 71, a blessing for my husband and me to know they will be cared for when we are gone.

But three years ago Warren had a bad fall, broke his femur, and after two months of recovery, had a seizure and another fracture. Now it seems this might be related to the KAT6A – but it also could be the epilepsy drugs he has been on so long. Who knows, but once again, we are trying to see if there is something else we need to do to help him. Thus, this blog, and emails to Dr. Kelley.

When I was asked to write this, I asked what should I write about – I was told tell us about birth on. I know I have given you more than you ever wanted to know, but once I started, I couldn’t stop. I wish you all the happiest of Mother’s Days. Your children are very lucky to have you.

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Sam inspired me to send you a description of his typical morning, in what I imagine would be his own words. I would call it…

MORNING AT MY HOUSE, BY SAM WOODBURY

Here he comes again, this time at an hour past midnight — Dad-with-flashlight. I coughed and the monitor picked it up. That woke him and alarmed him. In the darkness he just bounced off the corner of a table in my room and now he peers at my face. I pretend to be asleep. He stares at me for a second or two longer and then, satisfied, he turns to leave. He turns off the flashlight and trips on the chair at the foot of my bed, grunts, and then he’s gone.

Now it’s 4:30 a.m. and I’m wide awake. A couple of hours to kill before they usually wake up. Let’s see whether I can knock the TV over with a flying pillow — nope. I guess I’ll sit up and slam the Venetian blind against the window frame over my bed. I like the rhythmic Whack! — Whack! — Whack! as it slams back against the window.

Oooh, Mom has her morning face on! She shuffles in and mumbles something about 5:00 a.m. They think I don’t understand time. I understand that it’s never a good time for things I do that make a lot of noise or cause an unexpected load of laundry.

Well, now I’m on the toilet, my walker before me to keep me steady. They — that Mom-and-Dad pair — had a good idea a while back. I need time on the toilet to get my system moving, lots of time. (Do I understand time or don’t I?) But I used to get bored, and then I’d twirl my walker like a dance partner and dent the wall, or I’d twirl the roll of paper and make an impressive pile of softness on the floor. So that Mom-and-Dad pair bought a TV and mounted it on the wall in front of my toilet. Since it arrived, I get to watch Shaun the Sheep, Masha and the Bear, and other stuff they think I’ll like. I can’t speak words, so I can’t ask for SpongeBob directly. At least the TV relieves the boredom of the toilet.

Dad’s turn now in the morning routine. In greeting, he squeezes the top of my head with a large hand. I like that. I try to hug him but he makes me wait until I’m off the toilet. Once I’m up and partly dressed he squeezes me hard and I hug him harder. Then we’re off to deposit me in my recliner chair next to my bed.

I have this secret wish that they’ll both forget the toothbrush today. Mom forgets a lot but Dad usually remembers. Here it comes…! Aaaghhh — kewww — gaaaack!! Mow my mouff if full off faliva and I can’t fwallow!

Well, I do fwallow a trickle of it after a while but I hate it. What is that for, anyway? Next comes breakfast — hooray! I pull up my shirt to expose my G-tube. It’s always the same old gooey slurry that gets poured into the tube, with glops of additives, then portions of what they call “meds” followed by slops of water — (will these people ever come fully awake?) — and now I can relax and watch excruciatingly boring ads for Nutri-System and Humana on the big TV across from my chair.

Mom is sitting at the table in my room now, scribbling in her book — a big binder. She snaps it open and closed, open and closed. She scrawls in tiny boxes on lots of pages. I judge my timing and then I sneeze, just to jump her, and I spray my mouthful of foamy saliva. I can tell she’s impressed by the speed of her response, and I grin inwardly as she goes into action to save the folded clothes in the laundry basket in front of me.

Dad comes back with his plate of toast, meets my high-five, and sits on my unmade bed. I high-five at him again and again so he can’t eat. He calls me Buster Keaton. I know my name; it’s Sam. Maybe “Buster Keaton” means “I forgot your name.”

After toast he walks me to my shower. When Dad does the shower he sings his two favorite songs: Old Man River and Ghost Riders in the Sky. He also likes Cool Water and The Windmills of Your Mind. That last one really describes my mind, but I can’t tell him, so I try to hug him. He doesn’t want a wet hug. I guess these are also my favorite songs, because no one ever sings me any other ones. But you’d think he’d learn something else.

Usually it’s Mom who does the next set of rituals. She sprays my armpits with Holy Odor, makes precise designs in my hair with incantations, and then smears gel on my face and scrapes it off. I don’t know what this all does for them, from the tooth brushing to the face routine, but they can’t live without it. (The feeding I understand because it feels good to me. The rest makes them happy, so I don’t resist. It’s loving, and I get a lot of attention, and I get to slap the water in the sink while mom drives her toy snowmobile or whatever it is around on my face.) Finally someone pulls clothes over me and I can sit down again. Let the day begin!

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MY WORLD BY SAM

After my morning rituals, Adria comes in the daytime and hangs out with me. I realize it’s her job, so I try to brighten her day. We go places together, but almost every day she stays home with me for a while and makes me work, work, work. Adria makes me walk a lot. Walking frightens me, and I say so; that is, I groan my loudest when I’m supposed to be walking. She puts a “weight vest” on me and then walks me in circles in my room. I hold onto my walker, wearing that eight-pound vest, and shuffle slowly in a circle. I think: “Does this entertain you? How about you wear this vest and march around for me?”

A couple of times, when I’ve been on my feet, the floor has suddenly come up from behind and smacked me in the back. I have broken my ribs and had a lot of bruises. Since that happened, Adria or Mom or Dad walks behind me with a hand on my back. Dad says: “Go ahead, try to fall. I won’t let you fall.” They have all caught me at one time or another, so I know I’m safe. If someone isn’t right behind me when I’m standing, I just kneel at my walker, then sit and wait.

I fall because I’m a “Jumping Frenchman of Maine.” You can look that one up. My mom’s French Canadian grandmother ran sporting camps in Greenville, Maine. That’s where “jumping Frenchman” syndrome apparently originated. It is related to hyperekplexia, but don’t ask me to spell that. Either way, it’s an exaggerated startle reflex. Surprise one of my senses with a sudden change and I jump out of my skin, as my mom says. All it takes is a flash of light, a sudden movement off to my side, a ‘pop’ sound from another room, or an unexpected touch, and I throw out my arms and legs. Gravity decides what happens next. It is no fun.

About this walking thing. When people come up to me on their own two feet, I think: How do they do that? I could use about four more legs — or maybe not — where would I put them all when I’m in the car, or in bed? How would I put on my pants?

Adria also takes me all over the place in her Ram 2500 monster truck. I can step up into her pickup, or Dad’s truck too, by myself if I can hold onto someone’s shoulder so I won’t fall. Then Adria and I go to my meeting or to my job. On Mondays there is a SUFU meeting — Speaking Up For Us. Since I can’t speak, the president sometimes passes me the gavel so I can pound the table.

I take my job seriously. Two days a week I ‘m the Social Director at Meals-for-Me at lunchtime. Since I’m 100% tube-fed on a liquid diet, nobody is worried that I’ll eat all the cookies or take the last piece of meatloaf. My job is to sit beside one of the old ladies, a different one each time, (they take turns), and hold her hand. They tell me I’m handsome and give me hugs. Old ladies are fluffy, and so I like their hugs.

I have a friend, Curtis, who lives in town — a tall, happy fellow, and Adria sometimes takes me there. I usually see Penny when I’m there, Cleo too, and he has other friends who gather at his place, too. Some days we go to McDonald’s for lunch, or to the town beach for a picnic in the summertime. I am lucky to live in Lincoln, Maine, a small town where almost everyone knows me and is my friend.

When I’m outdoors walking, or in a big store like Walmart or Marden’s, I usually enjoy myself and “hoot it up” as people say. They can try to shush me, but I can’t curb my enthusiasm. Our town is built on the shore of a lake, and there is a park beside the lake, with a playground and a beach. When we go there, or to a basketball game or a track meet, I can hoot a lot and no one cares. That is great!

When I come home after a long day of walking and hooting and hugging, I just like to curl up in my big recliner chair and see what’s going on in the house.

I have been part of a family for as long as I can remember. Same Mom and Dad. Sisters who have always been around, although I see them less often since they grew up. Other people come for a time and then leave. I miss them. Before Adria, there was Tonya, for instance. When I see someone after a long time, who used to be part of my world, I get excited. I give them good hugs.

I’m still surrounded by sisters, though. At least four of them. They’re definitely adults now. Most of them used to be older than I am, but I’m 27 now and maybe I’m catching up. I don’t know how long it takes to become an adult, but I’m waiting to see. Then again, maybe only some people get to be adults and maybe some of us have a different role to play.

I’m also surrounded by nieces — and one lone nephew, Carter. Just when I think I know everyone in the family, one of my sisters brings in a new baby. They don’t stay babies for long, though. Some of those babies can already walk and, wow, can they talk! Maybe that’s a girl thing. I don’t walk well and I don’t talk yet either. Maybe that’s a guy thing. How do I ask Dad or Carter about that? Dad’s clumsy so maybe he’s still learning to walk, and he doesn’t talk much, but he can when he has to.

My family’s house is always busy. Besides Adria and my sisters and nieces coming and going, there’s my grandfather who lives here, and there are dogs. There used to be two little pugs. Then one dog went to be cremated and I haven’t seen him since. (If they ever offer me a trip to be cremated, I think I’ll turn it down.) After that, there was one little black pug, who has a hard time moving and who coughs all the time. Then, this spring, a new black dog suddenly joined the family. About two months ago she was the size of the old pug. Now she is as big as one of the deer in our back yard.

And that’s the story about the inhabitants of my world. It’s a great bunch of friends and a big, happy family.

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Ruby has been on my mind a lot lately. I mean, she’s always climbing on top of me, standing on my feet, yelling and crying, so it’s hard to NOT have her on my mind. It’s her diagnosis and everything that we’ve been through, the emotions, and the ability to keep my head out of the water through it all.

When it was first suggested to me that Ruby might have a chromosomal abnormality, I looked at her differently. Suddenly I could see her ears in just the wrong position, her eyes spaced just a little off, her nose just barely broader than normal. It clicked so suddenly that I was sure that genetics was where we’d find the answer. As she continued to grow physically, but not developmentally, I was even more sure that genetics was it.

One of the most frustrating things that I have experienced in this journey is doubt from outside sources. I knew that Ruby wasn’t a typical child. Not only did I have 3 other kids that I had experience raising to compare her to, but I lived with her and knew that she did things different. Not just different in the sense that all kids are different from each other and develop differently from each other, but Ruby was significantly unusual. When I would open up about my fears to people, they would tell me not to worry, because so-and-so’s child didn’t talk until this age, or this other so-an-so’s child didn’t walk until this age…”I’m sure she’s just fine, those doctors never know what they’re talking about.” This was a common occurrence for a while. I completely understand other parents trying to encourage, but when you actually live with a special needs child and see all of their deficiencies and experience their struggles, have seen a multitude of professionals that second the opinion, and then have someone outside of the situation tell you that everything you’re feeling is wrong… That’s not ok.

The first genetics testing that was performed came back normal. My first feeling was relief. My second and more profound feeling was angry despair. I knew there was something. Our geneticist did too thankfully, and pushed forward for the next test. We expected to go through the holidays (Thanksgiving, Christmas and New Years) without hearing anything, so when the phone rang in the middle of December, I was shocked and unprepared. He told me Ruby had a mutation in the KAT6A protein. We scheduled a time 2 days later to meet and discuss everything, but he asked if I had any questions in the meantime. I answered no, because I wanted to brainstorm questions with Daddypants to make sure we get everything covered. I then hung the phone up and asked Dr. Google.

Everyone knows that you should never consult Dr. Google. I once asked him about Ruby’s symptoms before we had any answers and I immediately regretted it. This time we had a specific diagnosis to look up, and I found that there was (and still is) very little literature regarding KAT6A. One information page that I found was hard for my heart to read. Almost every piece of information that was listed described Ruby. The hardest part was the fact that most KAT6A individuals struggle with sleep. The reason this was a struggle was because of the nearly 3 years of little sleep Ruby and I had experienced together. More so, the frustration that I had felt and the times that I was so angry I felt useless. The days that I felt resentment because I was so exhausted. Feeling resentment toward a child is a very guilt-riddled feeling. But learning that her sleep problems are due to her genetic makeup, something that she has absolutely no control over, and knowing the behavior I had had, broke my heart. I sobbed as I read it.

I also saw that oral motor deficiencies are common, as well as speech problems that include nonverbal individuals. Ruby doesn’t speak. We don’t know if she ever will. I know I’ve said it before, and I’ll say it again, but having a child that you love with your whole being, and knowing that they may never say “mama” or “I love you” is a really hard pill to swallow.

Today has been an emotionally challenging day for me. Tomorrow is my sweet girl’s birthday. I have 3 friends who all had babies within 10 days of Ruby’s birth, and the differences become distinctly more significant each year between them and her, which is often hard.

Tomorrow after breakfast I’ll get her dressed and take her to school for the very first time. She’ll be in a class that is a mixture of typical kiddos and those with special needs. I’m anxious to leave her in someone else’s care, but I’m also excited for the break. Almost 3 hours that I can clean, run errands, bond with Murphy, make uninterrupted phone calls! Ruby has spent much of her time today yelling and crying. She’ll be playing happily one minute and then suddenly just yelling because she’s unhappy about something, but I don’t know what, and she doesn’t know how to tell me. I feel so much frustration because my ears are ringing from all the yelling, and so much sadness because I don’t know what she needs, and so much guilt because I put Murphy down so often to try to tend to Ruby. Murphy is the happiest baby ever and mostly doesn’t mind, but it doesn’t stop the feelings of guilt from rolling in. It’s so challenging when I need to make phone calls but I know that Ruby will not be happy once I’m on the phone.

Most days I feel motivated and passionate and ready to take on KAT6A and prove that Ruby is awesome and able to prevail! Other days, like today, I have to remind myself that it’s ok to feel sad and have a little despair and anger. It’s ok to feel like I’m not good enough or not doing a good job, because deep down I know it’s a lie and that I’m a damn good mom to Ruby and all of her siblings.

I also have to remind myself that it’s definitely ok to brew a second pot of coffee for the 10th day in a row. Here’s to cup number 5 for the day (or is it 6?)!

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You can read more by Emily on her personal blog. Emilyhoffhines.wordpress.com

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There are moments in life when you have to find yourself and you also find others. Being a teacher helps to make young people find themselves and others. With our project “Eleanor KAT6A: When Dreams Learn to Fly” we have discovered talents, awakened empathy and found common ground that connects together: family, friends, acquaintances and school community. It shows wonderfully what it means to be strong together, for others and ultimately for yourself as well. We’re taking part in the Strong School Award and I can only say one thing and proudly: You have this project in so many different ways carried along and helped, that dreams fly and become reality.

THANK YOU!

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Pol nació por cesárea en diciembre de 2008 en Tremp, un pueblo del prepirineo catalán de la provincia de Lleida (España). Solamente nacer los médicos se dieron cuenta de que alguna cosa no iba bien, tenía alguna malformación y no tenía el instinto de succión que tienen los bebes al nacer, y a consecuencia no comía debidamente.

A las 24 horas de nacer se lo llevaron a la UCI del hospital Arnau de Vilanova de Lleida. Allí estuvo 6 días mientras se le hacía todo tipo de pruebas, también genéticas. Pol tiene unos rasgos característicos que son los que pusieron en alerta a los médicos; los ojitos separados, sus orejitas son distintas una de la otra, la lengua es grande,…

En el hospital descartaron algunos síndromes sin encontrar nada, así que nos fuimos a casa pensando que el problema era todo físico.

Pasaban los días y veíamos que el Pol no se comportaba igual que los niños de su mismo tiempo, y en sus revisiones pediátricas nos dimos cuenta que su cabeza era pequeña y le crecía muy despacio. En un principio se creyó que su cráneo se cerraba demasiado rápido y no dejaba que su cerebro creciera con normalidad, pero no era así, sino que era el cerebro que no crecía y por eso el cráneo se cerraba tan rápido.

A partir de entonces empezamos las visitas a neurología, sin pensar que el problema de Pol iba más allá.-“este niño necesitará mucha estimulación para tirar adelante”- nos decían, y nosotros pues…a estimularlo a tope…

Pero un buen día, un médico nos dijo –“¿vosotros sois conscientes que vuestro hijo será siempre un niño especial?”- supongo que lo sabíamos pero no lo quisimos creer hasta aquel momento.

…síndrome polimalformativo, retraso psicomotor, microcefalia, protusión lingual, disfagia esporádica, hipotonía general, y un largo etc…fueron las palabras que empezamos a oír a partir de entonces.

…eco cerebral, ecocardio, RM craneal, RNM cerebral, tránsitos digestivos, potenciales evocados, cariotipo, estudio de cromosomas, estudio metabólico, y otro largo etc…pero sin ningún diagnóstico.

Los primeros años de Pol fueron muy duros; primero por tener que aceptar lo que estaba pasando y procurar, como madre, no sentirte culpable pensando si había hecho alguna cosa que hubiera perjudicado a Pol mientras estaba en mi barriga; y después por las muchas visitas a hospitales, médicos públicos y privados, pruebas, terapias,… y sobre todo por las operaciones…

A los 3 meses lo operaron de hernias inguinales, todo fue bien.

A los 2 años, fimosis e hipospadia, todo salió bien, también.

A los 4 años, hernia hiatal; Pol siempre tuvo problemas de reflujo gastroesofágico y esto le provocaba acidez y a su vez vómitos que les llaman “poso de café” debido a su color. Resulta ser sangre digerida que tiene en el estómago por culpa de unas pequeñas llagas, y cuando sale esta sangre en el vómito lo hace en el color del café.

Después de algunas pruebas y unos días de ingreso se nos dijo que cuando Pol pesara 10kg; algo que costó un tiempo porque a Pol siempre le ha costado mucho ganar peso; le operarían.

La operación fue bien, le hicieron un NISSEN, que resulta ser una especie de “nudo de corbata” que hacen en la boca del estómago. Nos advirtieron que si este “nudo” no conseguían hacerlo bien preciso cerrarían el estómago más de la cuenta y Pol no podría volver a comer normalmente, y le pondrían un botón gástrico; así que cruzamos los dedos para que todo saliera bien y así fue. Ahora Pol come normal, pero le ha quedado una secuela, no puede vomitar y en algunos momentos les es desagradable, por suerte ya lo tenemos controlado.

A los 6 años, operación de corazón; “tabique interauricular con defecto amplio de 11mm”, es decir que tenía dos cavidades del corazón conectadas y el corazón le crecía más de un lado que del otro y se le tuvo que poner un parche para cerrar el agujero que las unia. Primero lo probaron por cateterismo pero no pudo ser, el agujero era demasiado grande y el parche no aguantaba; así que se lo acabaron haciendo con cirugía. La operación salió bien, pero la recuperación fue muy dura para él.

Otras cosas destacables de la evolución de Pol:

. Comió triturado hasta pasados los 3 años.

. Lengua con poca movilidad y siempre fuera de la boca.

. Babeo abundante.

.No fijó la vista y manipulaba los objetos con las dos manos por separado hasta los 4 años.

. Trastornos del sueño, que aún hoy estamos tratando.

. Problemas de caries en los dientes y está a la espera para sacarle los 4 dientes de leche delanteros de la parte de arriba para que puedan salir los definitivos.

. Le costó mucho voltear (hacer la croqueta)

. Sedestación a los 24 meses aproximadamente.

No gateó nunca y empezó a andar con soporte a los 5 años y a los 6 años empezó a andar solo. Ha hecho y hace diferentes terapias, en su caso todo suma, cualquier estimulo es bueno y ayuda a su evolución.

Pol estuvo utilizando bipedestador durante un largo tiempo, tenía peligro de luxación de cadera debido a no ponerse de pie, los huesos de su cadera no encajaban debidamente. Lleva férulas para andar porque la posición de los pies no es del todo correcta y también le dan más estabilidad.

Va a una escuela “norma” inclusiva. Siempre hemos pensado que mucha parte de su buena evolución ha sido por compartir muchos momentos con los compañeros de su escuela, y siempre ha tenido el soporte que ha necesitado.

Le gustan mucho los sonidos y las texturas, poner cosas dentro de un recipiente y moverlo es su juego preferido, o jugar con una montaña de hojas secas.

Seguro que hay un montón de cosas que explicar de Pol, pero para nosotros, sus padres, lo más importante de todo es que él es un niño muy querido por todos lo que lo conocen, es muy cariñoso y muy feliz, y lo mejor es que esto lo ha conseguido sin tener que hacer ninguna terapia ni tratamiento.

Muchas gracias por dedicar este ratito a leer la historia de nuestro hijo.

-Marco

English Translation:

POL MONSÓ PARRAMON

Pol was born by caesarean section in December 2008 in Tremp, a town in the Catalan pre-Pyrenees in the province of Lleida (Spain). Just being born, the doctors realized that something was not going well. He had some malformation and did not have the instinct of suction that babies have at birth, and a consequently did not eat properly. He was taken to the ICU of a hospital in Lleida 24 hours after birth. There he spent 6 days while he was done all kind of medical tests, also genetic tests.

Pol had some characteristics features that draw attention to doctors; his eyes were too separated, his ears where different from each other, his tongue was bigger than normal…

In the hospital the doctors discarded some syndromes but didn’t find out anything about what was going wrong with Pol.

So we went back home thinking that his problem was a physical issue.

The days went by and we noticed that Pol did not behave like children of his age, and in his paediatric check-up we realized that his head was smaller and was growing very slowly.

At first, it was believed that his skull was closing too fast and did not allow his brain to grow normally. But, actually it was the brain what did not grow enough and that’s why the skull closed so fast.

From then on, we began visit to neurologist, without thinking that Pol’s problem went further –“this child will need a lot of stimulation to move forward”- they told us, and we….to stimulate him in to the fullest…

But one day, a doctor told us –“Are you aware that your child will always be a special child?”- I guess we knew it but we did not want to believe it until then.

…polimalformative syndrome, psychomotor retardation, microcephaly, lingual protrusion, sporadic dysphagia, general hypotonia, and a long etc….were the words we began to hear thereafter.

…cerebral echo, echocardiography, cranial MRI, digestive transits, evoked potentials, karyotype, chromosome study, metabolic study, and other long etc… but without any diagnosis.

Pol’s first years were very hard. First, we have to accept what was happening and try, as a mother, not to feel guilty thinking if I had done something that would have hurt Pol while. He was in my belly; and then for the therapies… and above all for the surgery.

When he has 3 months he underwent inguinal hernias, and everything was fine.

At his 2 years old, phimosis and hypospadias, everything went well, too.

At his 4 years old, hiatal hernia; Pol always had problems of gastroesophageal reflux and this caused him acidity and in turn vomiting that they call “coffee grounds” due to its colour. Its turns out to be digested blood that has in the stomach because of some small sores, and when it comes out this blood in the vomit does it the colour of coffee.

After some medical test and a few days in hospital we were told that when Pol weighed 10kg, they would operate him. That was something that took time because Pol always had a hard time gaining weight; they would operate him.

The operation went well, they did a NISSEN surgery which is kind of “tie knot” that they make in the pit of the stomach. They warned us about if this “knot” wasn’t done quite well he stomach would be more closed than necessary and Pol would not be able to eat normally never again, and they would have to put a gastric button on it. So we crossed our fingers so everything went well and that’s the way it went. Now Pol eats normal, but he has a sequel left, he cannot vomit and sometime it is unpleasant for him. Luckily, we have it under control.

Al 6 years old, a heart operation; “interatrial septum with 11mm wide defect”, that is, it had two heart cavities connected and the heart grew more on one side than on the other, so a patch had to be placed to close the hole that united the cavities. First, they tried it by catheterization but the hole was too big and the patch could not stand; so they ended up doing it by surgerying. The operation went well, but the recovery was very hard for him.

Other remarkable things about Pol’s evolution:

. He had ate crushed food for over 3 years old.

. Little mobility of the tongue and always outside the mouth.

. Lot of drooling.

. He didn’t focus his sight not manipulate objects with both hands separately until he was 4 years old.

. Sleep disorder, which we are still dealing with today.

. Cavity problems in his teeth and he is waiting to his 4 frontal superior milk teeth be removed in order to let the definitive teeth go out.

. Rolling over himself was very difficult for him.

. He was able to keep sitted when he was 24 month old.

. He never crawled. He began to walk with support at 5 years old. One year later he was able to walk alone.

. He has done different therapies, in his case everything add up, any stimulus are good and help his evolution.

Pol had being using the standing frame for a long time. He had a risk of hip dislocation due to not standing up, the bones of his hip did not fit properly. Wears splints to walk because the positions of the feet is not entirely correct and also gives more stability.

He goes to an inclusive “normal” school. We have always thought that a lot of his good evolution was thanks to share many moments with his schoolmates, and he always has the support he needed from them.

He likes sounds and textures a lot, putting things in a container and shake it is his favourite game, or playing with mountain of dry leaves.

Sure there are a lot of things that we can explain about Pol, but for us, his parents, the most important thing above all is that he is a very beloved child for all that know him. He is very affectionate and very happy, and the best thing is that this is not consequence of any therapy or treatment.

Thanks you for taking your time to read our son’s story.

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Este domingo hemos hecho un paso más en dar a conocer KAT6A, corriendo la ZURICH MARATÓN BARCELONA junto con unos grandes amigos, los TREMP RUNNERS y Pol, el protagonista, aquí teneis un resumen en imágenes. Nos hemos divertido muchísimo.On March 11,2018 we have made one more step in making known KAT6A, running the Zurich Marathon Barcelona along with some great friends, the Tremp Runners and Pol, the protagonist, here you have a summary in images. We had a lot of fun.Watch Video!

Chase is 3 years old and one of the happiest kids I know. He is the third youngest out of four kids and couldn’t love his siblings more. He is happy just to sit by his big brothers and watch them play video games. :)

Chase’s story started November 1, 2014 when he was born via emergency c-section. Nothing about the delivery was ideal. We started out going in to get induced and having Chase manually flipped around in my belly. Once his heart rate fell the doctors decided it would be best to get him out as quickly as possible. When Chase was born he was immediately intubated due to meconium aspiration. Little did we know this was the best thing that could have happened for him.

Chase was brought straight to the NICU. Everyone assured us that it was just for observation and he would be joining us shortly. After hours turned into days of him not coming to our room I knew something was wrong. When Chase was 3 days old he had an X-ray of his lungs to check on the meconium. Luckily his heart was also in this X-ray because that is how they found his heart defect. Chase had 3 holes in his heart along with a valve problem. If it weren’t for him aspirating on meconium we would never have figured this out so soon.

Once the heart defect was discovered the whirlwind started. They started looking into what could have caused this and they decided it was probably genetic. That’s when the testing started, the specialists started coming around, and problem after problem was being found.

Chase had a g-tube placed and a nissen fundoplication when he was 5 weeks old. It was decided that eating orally just wasn’t going to happen for Chase at that time. Exactly 2 weeks later, at 7 weeks old, Chase under went open heart surgery to repair his heart.

At 10 weeks old Chase got to leave the hospital for the first time. We learned what our new normal was with a medically complex child but we still didn’t have an answer to why this all was happening to him. When Chase was one year old we finally got the results form the whole exome sequencing and that is when we got our answer, KAT6A.

Since being diagnosed with KAT6A, we have learned a lot and met so many great people. The KAT6A support group has been a life saver. When your child’s doctor tells you they have never seen a child with your child’s diagnosis and is unable to answer all of the questions you have from this life changing test result you feel completely lost. The other parents of kids with KAT6A have been there to answer questions, give words of encouragement, and just be there when you need it.

This isn’t the life I asked for but it’s the one that was meant for me.

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It’s a scene I’m very familiar with. The parents sit across from me, anxious and fidgety. Sometimes they cry, sometimes nervous giggles. Always fear. Confusion and concern for their child. As a psychiatric nurse, I know the parents are, by extension, secondary patients that I must also care for. I help calm them down as they try to rationalize their child’s attempt, or most recent self-harm. I reassure them that this isn’t the end of the world. There is hope for them and for their child. I help them come to grips with their loss of control. I explain the treatment, sometimes I can explain the behavior. Sometimes it is more normal than they realize. Patient care is something I’m fairly familiar with; it is easy to comfort from the outside looking in.

But then, it’s your own child…and everything is different.

You realize your hypocrisy. All those times you reassure and quiet their fears, only to spiral in panic as soon as you are placed in their shoes. There is a realization that hits in, how little control you have, and how truly helpless you are. You are simply a silent observer, through tear-stained glasses, forced to watch a tragic performance, deviating from a script you didn’t write.

Every lab draw was agony. Every IV and test broke me. Even the feeding tubes and consistent weight loss. Almost every procedure was something I had done before or observed. I never imagined during my training that I would see my own daughter submitted to the same. All of my experience and training was useless. Everything is different when the patient is your child.

I remember holding my precious girl’s little hands, listening to the doctor explain, again, how they didn’t know what to do. I prayed silently, hoping someone could hear me. So much uncertainty. Every test and every potential answer was a red herring. I didn’t know how much longer I would be able to refer to my daughter in the present tense. That question burned in my head every time I visited the NICU.

I finally interrupted the doctor to ask as bluntly as I dared. “Will my baby die?” The doctor replied through tears that she did not know. I left feeling nothing. I had no more tears to give and no strength to feel sorrow. I had to accept that my daughter would probably never come home.

That type of pain damages you. In some ways, you do not fully recover. It is almost as if part of your soul dies in that moment. I cannot begin to imagine the pain of actually losing your child. My daughter pulled through…but there is still a large scar in my heart. It will haunt me, forever.

It was so difficult to accept that my daughter would live. Almost more difficult than accepting that she wouldn’t. Answers came, and with them, solutions…but none of it felt real. It took a while for me to hope again. To let myself plan a future. To assume she would be OK.

I did, though. My daughter, diagnosed with KAT6A, is developmentally delayed…but healthy, living, and progressing. We are a part of a support group, and going to a clinic specifically for KAT6A in a couple weeks. Her story isn’t over.

At this point, I would love to end with a cheesy message of hope. But I have none. Only a message of pain. But pain can connect people, and strengthen bonds. Pain bares open our souls and reveals our truest self.

If you are reading this, you have likely experienced pain. Perhaps you, like me, have had to watch your loved one suffer. Just know that I, too, feel your pain. I do not understand it. Yours is unique to you, and I will never claim to know how you feel, but know you do not suffer alone. We all carry our own burdens, often too heavy to hold on our own. I share my pain with you. If it somehow resonates with you, please consider sharing your own pain. Allow us to share your suffering. You do not need to hurt alone.

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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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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.

The KAT6 Foundation is honored to receive a third year of funding from the Chan Zuckerberg Initiative (CZI), in the amount of US$150,000. The grant supports the expansion of the KAT6A/KAT6B Research Network and accelerates our work to find treatments or a cure for KAT6A and KAT6B syndromes.

“We are so grateful to the Chan Zuckerberg Initiative for their continued support of the KAT6 Foundation and the rare disease community. Their continued support recognizes the great progress our foundation has made in developing and organizing the community of researchers seeking to understand and treat KAT6A and KAT6B syndromes. We look forward to continuing to develop new research opportunities and collaborations as we seek future sustaining funding opportunities,” shared Jordan Muller, chairperson of the KAT6 Foundation.

In February 2020, The KAT6 Foundation was selected as one of thirty patient-led organizations for CZI’s Rare as One Project and was awarded a grant of US$450,000 to be used over 30 months. This grant has enabled the foundation to expand its Research Network by funding a science director, research coordinator, and patient registry coordinator, which helped facilitate the first KAT6A & KAT6B Virtual Symposium in 2021. This was the first collaborative research event organized by the KAT6 Foundation in which 16 speakers presented their research related to KAT6A or KAT6B genes. This conference provided researchers an opportunity to discuss their findings, ask questions and receive feedback while strengthening collaboration. In June 2022, these funds will allow us to host the 3^rd International KAT6A & KAT6B Conference so that we can bring families, researchers, and medical doctors together for the first time since 2019. Furthermore, the CZI grant has been critical in helping us improve fundraising and awareness initiatives by supporting marketing and communications costs.

As we move forward, we will continue CZI’s mentorship program, which has provided us with the valuable opportunity to collaborate and learn from other rare disease organizations. This additional funding will foster greater collaboration between all the researchers currently working or interested in KAT6 through subsequent meetings in the KAT6A and KAT6B Virtual Symposium series. The opportunity CZI has provided us to strengthen our Research Network has allowed us to be a driving force in international KAT6A and KAT6B research. It is an honor to serve the KAT6 patient community as we move forward in our mission to ensure equity in access to testing, knowledge, and therapies for KAT6 patients around the world. Thank you for your continued support.

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KAT6A Families,On March 1, 2018, Dr. Francis Collins, the Director of the National Institutes of Health (NIH) dedicated his blog posting to Dr. Valerie Arboleda’s research on KAT6A.  This blog post provides great visibility for our community and the KAT6A Foundation, and is a very good summary of her research plan. https://directorsblog.nih.gov/…/creative-minds-looking-fo…/…

I also wanted to recognize and thank all of the families who supported the Children’s National Race For Every Child over the past several years. It was funds you raised for those events that supported her initial research. This research provided the early findings that helped her win the NIH grant that will help sustain this research going forward. So congratulations to all of you for helping further KAT6A research. And thank you for your continued support of our new KAT6A Foundation as we continue to raise funds to support future research.

Jordan Muller

Chairperson of the KAT6A Foundation

On February 3, 2018, the first KAT6A clinic was held in Baltimore, Maryland, at the Kennedy Krieger Institute. Nineteen families attended and several more followed the clinic by livestream.

We were pleased to have in attendance and as speakers Jacqueline Harris, M.D., Ph.D., Pediatric Neurologist from the Kennedy Krieger Institute in Baltimore, Hans Thomas Bjornsson, M.D., Ph.D., Director of Epigenetic and Chromatin Clinic and Assistant Professor of Pediatrics at Johns Hopkins Hospital in Baltimore, Jill Fahrner, M.D., Ph.D., Assistant Residency Program Director at Johns Hopkins Genetic Medicine Residency Program and Assistant Professor of Pediatrics at Johns Hopkins Hospital in Baltimore, and Richard Kelley, M.D., Ph.D., former Director of Division of Metabolism at Kennedy Krieger Institute in Baltimore and current researcher at the Division of Genetics and Boston Children’s Hospital.

After a welcome by KAT6A Communications Director Brittany Green, Dr. Jacqueline Harris presented an overview of the KAT6A clinical syndrome. She explained that KAT6A is a histone modifier epigenetic disorder. This means that the gene function is changed, not the gene sequence, and it is influenced by the histone machinery. It is most often de novo, which means that the genetic change happens in the child and is not inherited from either parent. She reported that there are only a few documented cases, so not much is known about KAT6A syndrome. Researchers need more cases to study. However, there seem to be some features that are nearly universal and some features that seem to be related. Some of the universal features include hypotonia, feeding problems, congenital heart disease, eye or vision problems, skull abnormalities, distinctive facial features, and global developmental delay. Less common but probably associated features are small birth size, perinatal complications, seizures, specific behavioral features, sleep disturbances, immune system irregularities, dental abnormalities, hand abnormalities, and brain MRI abnormalities. She concluded by stating that current researchers learn most from the patients and their families and by drawing from information from other similar epigenetic syndromes.

Next, Dr. Kelley spoke about mitochondrial dysfunction in KAT6A. KAT6A affects metabolic protein absorption, and children with this disorder often have abnormal levels of certain plasma amino acids. Some that he mentioned were citrate, asparagine, and phenylalanine. Using common lab standards, amino acid levels often seem within normal range but a doctor who specializes in mitochondrial disorders uses a conversion scale to determine whether there is a mitochondrial disorder. Dr. Kelley has been working with several families to analyze plasma amino acid levels and then recommending parts or all of a mitochondrial cocktail that he has developed as treatment. Carnitine has been shown to potentiate chromatin opening, and Vitamin B5 helps the body break down carnitine, so these are often helpful to children with KAT6A. Several parents have documented developmental progress in their children who are taking carnitine and vitamin B5. Dr. Kelley is quite confident that carnitine is very beneficial to individuals with KAT6A.

Dr. Bjornsson was the last speaker and he spoke about mendelian disorders of the epigenetic machinery and therapeutic possibilities. He has been studying a disorder very similar to KAT6A called Kabuki Syndrome. They are both epigenetic disorders of the histone machinery. Dr. Bjornsson is studying a mouse model of Kabuki syndrome and has been able to gain much needed information, including some effects that can be reversed using drugs targeting the epigenetic machinery. He also feels that carnitine is likely a good therapeutic treatment for KAT6A. He would like to be able to build KAT6A related data based on seeing more patients with KAT6A. He summarized by emphasizing how rare KAT6A is and that in order to assist in further research, the KAT6A Foundation needs to participate in research by donating results, samples and joining studies, as well as promote research by raising funds to help any interested lab get preliminary data to attract NIH funding. We can also continue to organize meetings and clinics such as this one and continue to increase awareness about KAT6A in the world.

The meeting concluded with some time for the families to meet, share information, and speak individually with the doctors. For those present as well as those families who were listening to the live feed, this first get-together was stimulating, rejuvenating, and gave us hope for our children’s future.

You can view the full presentations by the medical specialist on our KAT6A Foundation Youtube channel.

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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.

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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.

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.