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:

* * * * * * * *

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!

* * * * * * * *
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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Our family was honored to be invited as special guests to the Creighton Farms Invitational Golf Tournament in August 2019. Barbara Nicklaus, the wife of golf great Jack Nicklaus spoke about the Genomics Program at Nicklaus Children’s in Miami, which is technology that truly changes lives. We know because it changed ours dramatically.

Lilly is the sixth child of seven. Since birth, Lilly has been the sweetest, happiest baby. However, over time, she remained a baby. She didn’t hit her milestones physically or developmentally. We sought help from our pediatrician and specialists, we had a couple different types of genetic testing, but it gave us no insight into what was going on in our precious little girl.

As parents, we have a pretty big job. It’s our duty to nourish, nurture, instruct, love, and care for our children as they grow. We feel deeply responsible for these little ones entrusted to our care and our greatest desire is for them to be healthy, happy, and loved. As many of you know, when your child isn’t growing and developing, you start to panic because you know that could be a sign, a symptom of a bigger problem that could adversely affect their future. You start to seek answers from experts, from doctors, counselors, other parents, google every symptom. And when you don’t find anything that matches your situation it gets really frustrating. When a genetic counselor shakes her head and calls your child a “head scratcher”, your heart drops. There are days when you feel helpless, hopeless, and believe no one is ever going to figure out what is wrong with your precious child.

Then, the next day you get up and you start again. Because as a parent, you never give up on your child. You never stop advocating and working towards finding the right answers to give them the best life you can.

That’s where Nicklaus Children’s came into our story. Through their collaboration with RADY San Diego, they were able to give us the answers we couldn’t find anywhere else via whole genome sequencing. The relief of having a diagnosis of KAT6A, of seeing that list of characteristics that read like a checklist of Lilly’s symptoms is not easily described.

Still, once the relief of having the answers wanes, there are other emotions. There’s fear, sadness, and grieving. However, the information is invaluable as it has given us new avenues to seek assistance that weren’t open to us without a diagnosis.

Because of our involvement with The Nicklaus Children’s Health Care Foundation, Lilly was featured on the cover of their 2019/2020 issue of Fore the Children. We are honored that she was chosen to represent the thousands of children that the Foundation helps.

We are also privileged to be included as a part of the KAT6A Foundation, a group that works together, shares experiences and treatments, and truly cares about each and every person effected by KAT6A. Every milestone, every accomplishment, every discovery is celebrated not just by the individual, but by the group. And that’s what makes us all family.

Written by Christy

Bruno’s journey began in 2019. From his birth on October 11th, 2017 we already knew that something was happening but we didn’t have a final diagnosis until February 21st, 2019.

Even though the pregnancy was normal, when I was 37 weeks pregnant Bruno hadn’t turned yet. He was going to be born breech and my gynecologist convinced me to let them turn him around in my uterus to avoid a C-section. I agreed and when I was 40 weeks pregnant my labor was induced since Bruno’s heart wasn’t beating as well as doctors had hoped.

My labor was amazing and in only four hours I had my baby in my arms. I still cry when I think about that tiny beautiful face.

From there on things began to happen. Forty eight hours later we left the hospital without being able to get Bruno to breastfeed or take a bottle. He was fed 10 ml of formula with a syringe, and was diagnosed with hypotony cervical-axial and micrognathia.

From that moment on, everything has been agonizing. At only fifteen weeks he had a stomach protector and they changed his formula to a special milk without proteins from cow’s milk. It turned out he was lactose intolerant and he had almost got intestinal ulcers. Because of all of his stomach problems he wasn’t even gaining 50gr and we weren’t able to stabilize his weight in any way.

He spent every night crying and we cried with him. When we were able to correct his dose of medication from his stomach he started gaining weight. However, he was already 4 months behind in growth and we began to notice that he wasn’t doing many things that corresponded to his age as far as psychomotor movements. All of this, combined with an atrial septal defect ​in one of his many check-ups, sounded the alarm when he was only 6 months old. He already had a heart diagnosis, an appointment with the geneticist, check-ups with infant digestive specialists, and he had started with physical therapy and child psychology.

It all continued to develop and the operations started to become the new normal; heart surgery, tear duct opening, a possible knot if his esophagus. It was a nightmare that never ended and every time we went to the pediatrician it was something new.

Finally we received the feared but long awaited diagnosis; KAT6A syndrome. Although we thought that a diagnosis would give us encouragement, it was the total opposite. It erased all the hopes that we had that one day Bruno would lead a normal life. We forgot about all of the strides that he had made in the last 16 months and we thought that we would never be happy again.

At first the doctors only had bad news for us, saying that he would never be able to speak or walk because he had a severe handicap. However, little by little we have seen that with therapy and effort, great things can be achieved and we began to see the light again.

Bruno is currently going to physical therapy, a psychologist, speech therapy, and special therapeutic classes at the swimming pool and at the equestrian center with horses. He can walk and although he doesn’t speak he can make sounds and pronounce some syllables. He communicates in his own way despite his disabilities and above all, and most importantly, he is HAPPY.

On our journey we found the KAT6A Foundation on Facebook and through this group we have connected with other families in Spain. We also found the ‘Asociación KAT6A y Amigos’ which has helped us immeasurably to overcome every obstacle and has guided us to help Bruno progress as much as possible.

Thank you to all of you and to our medical team who have made something which once seemed so complicated, much easier for us now.

By Veronica

Spanish Translation:

Bruno comenzó su viaje en 2019. Desde su nacimiento el 11-10-2017, nosotros ya sabíamos que algo ocurría, pero no tuvimos un diagnóstico definitivo hasta el 21-02-2019.

Aunque el embarazo fue normal, cuando estaba de 37 semanas Bruno no se había dado la vuelta, venía de nalgas y mi ginecóloga me convenció para que les dejase darle la vuelta en el útero y evitar la cesárea. Me presté a ello y cuando cumplí las cuarenta semanas me provocaron el parto porque el corazón de Bruno no latía todo lo bien que ellos querían.

Tuve un parto buenísimo y en apenas cuatro horas tenía a mi pequeño en brazos. Aquella preciosa carita, aún se me saltan las lágrimas al pensarlo.

Y ahí empezó todo, 48 horas después salimos del hospital sin conseguir que bruno succionara el pecho ni el biberón, alimentándose de 10 ml desde una jeringuilla, y con un diagnóstico de hipotonía cérvico-axial y micrognatia.

A partir de ese momento ya todo fue un calvario, con apenas 15 días ya tomaba protector estomacal y le cambiaron a la leche especial sin proteína de leche de vaca porque era intolerante y casi había llegado a colitis ulcerosa. Debido a todos los problemas estomacales que tenía no cogía ni 50 gr con lo que no conseguíamos estabilizarlo de ninguna manera.

Se pasaba las noches llorando y nosotros llorando con él. Cuando conseguimos dar con la dosis de medicación adecuada para el estómago, empezó a ganar peso, pero ya llevaba 4 meses de retraso y empezamos a notar que había muchas cosas que por edad le correspondía hacer a nivel psicomotor y no las hacía. Eso unido a que el pediatra descubrió una CIA en una de sus múltiples revisiones, hizo que saltasen todas las alarmas y con sólo 6 meses ya tenía un diagnóstico cardiaco, una cita con genética, un control por digestivo infantil y había empezado en atención temprana con fisioterapeuta y psicólogo.

Todo siguió avanzando y las operaciones empezaron a sonar en nuestra cabeza, corazón, apertura del lacrimal, testículo en resorte, posible nudo esofágico; parecía una pesadilla que no acaba nunca, cada vez que íbamos al pediatra era una cosa nueva

Y llegó el temido pero a la vez esperado diagnóstico, Mutación en KAT6A, y aunque pensamos que un diagnóstico nos daría aliento, todo lo contrario, mató todas las esperanzas que teníamos de que algún día Bruno pudiera llevar una vida normal. Todos los avances que había hecho en los 16 meses que tenía se nos olvidaron, y pensamos que nunca más volveríamos a ser felices.

Al principio nos lo pusieron todo muy mal diciéndonos que no podría hablar que tenía una discapacidad muy grande y que no sabían si llegaría tampoco a caminar, pero poco a poco vimos que con terapias y con esfuerzo se podían conseguir grandes cosas y empezamos de nuevo a ver la luz.

Hoy por hoy, Bruno acude a fisioterapeuta, psicólogo, logopeda, terapia acuática y terapia ecuestre, ya camina sólo y, no habla, pero emite sonidos y dice alguna sílaba. Se relaciona y comunica a su manera a pesar de su discapacidad y, sobre todo, lo más importante, es FELIZ.

Por el camino nos encontramos con la Kat6A Fundation en Facebook y, a través de ellos, con el resto de familias que hay en España y con la Asociacion Kat6A y Amigos, que nos han ayudado lo indecible a

superar cada obstáculo, y nos han guiado para poder ayudar a que Bruno avance todo lo que sea posible.

Gracias a todos ellos y al equipo médico por hacernos fácil lo que al principio nos pareció tan complicado.

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I was born in 1989. The birth lasted for 33 hours. I was measured to be 49 cm and 3160 grams. During birth I had swallowed amniotic fluid. I could not breathe, and my skin turned blue. The doctors took me to the next room to pump. I also had a hidden cleft palate, so I had difficulties at breastfeeding. I probably couldn’t close my lips around the nipple, so I had to get fed with baby formula. From when I was 7.5 months to when I was 10 months, I was very cold with fever up to 40 celsius. I could often cry until I turned blue and lost my breath, so the doctors diagnosed it asthma. When I was three months old, I was hospitalized for 3 weeks with left foot in a knit because of an bone cyst.(which made it so that the foot broke). I had common cold, chickenpox and otitis, so I had 10 penicillin treatments through 6 months in my early years.

In kindergarten I was a silent and calm child. I remember the other kids didn’t let me in on their play, and I, instead of using words, reacted violently. In primary school, fifth grade, PPT (the school psychiatric team) gave me an IQ test, where my score was a little over “mentally deficient”. The doctor recommended to keep it, and put the term “mild” in front of it, as it would improve my right to facilitation at school. I was granted a classroom assistant, was placed front row in the classroom, window-side. Thus, I had to turn around to see what my classmates were up to. Socially, this was a disaster. I went to a speech therapist, and measurement of hearing. I have had a lot of otitis throughout my childhood. I had many infections as a child, but it’s rare that I become sick when I was in my 20’s. I took the most of it with a smile.

My adulthood has been kind of better. I have some struggles, because I got detected with ADD/ADHD Inattentive type back in 2014 during the autumn, so I’m struggling with some of the symptoms that comes with it as well. I got driver license in 2011, and I love to drive. I would like to expand my social life, but since I’m a calm and silent person(at times) I think it’s a little difficult to get to know more people, specially in occasions where there are many people. I can then seem shy or that I’m not interested, but I easily get distracted when there are alot of people around.

Now that I am an adult, I work in a protected company which is a permanently adapted job for people who for various reasons can’t be in ordinary work. I have great colleagues and it’s a great place to work. We are also good at taking care of health, environment and safety requirements I have two friends that I work with and since they don’t have a driver license, I pick them up in the morning and bring them to work. We use to meet after work and on weekends.

I’m happy that I found and can be a part of the KAT6A support group.

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18 years and 31 days after he took his first labored breath, we have a diagnosis for my boy.

The genetics department called a couple of days after Christmas to share the news, and I have been reeling since. For 30 days now, I have been down the rabbit hole of investigating KAT6A Syndrome. I waited 16 years for this news. And now that I have it, I’m a mixed mess of emotion. Relieved to finally have an answer. Shocked to finally have an answer, when I was resigned to not ever having one. I’m overwhelmed by the news and the information I’ve been devouring. Gratified to see that I have been providing Braeden with the best options for addressing the symptoms and pieces of this syndrome, with the exception of a supplement cocktail that may help.

I joined a Facebook support group that is nothing short of amazing. For the first time in Braeden’s 18 years and 31 days of life, I am reading story after story about fellow KAT6A parents and children and with tears in my eyes exclaiming “us too!” The camaraderie is uplifting and so much more helpful than I can adequately express. I’m seeing photos of kiddos that could be Braeden at that same age. That hold their hands in the same unique position that he does. There are only 180 or so diagnosed cases of KAT6A Syndrome, worldwide. In a month, that number jumped up from 166 known cases. Braeden is one of the older diagnosed patients. Most of the parents in the support group have younger children. Braeden appears to have a *middle of the road* case. This syndrome affects everyone differently. The severity of symptoms ranges from very profound disabilities, to very mild. I’ve said over and over that I’m an open book because I don’t want other special needs parents to feel the pain of isolation. So far, Everything that Braeden has dealt with, appears to be KAT6A related. The ACM1, apraxia, orchiopexy repair, sensory issues, failure to thrive, low muscle tone, acid reflux…….all of it. KAT6A Syndrome. Within this support group I’ve been able to give parents of younger patients hope that their kids will outgrow some of the symptoms they are dealing with now. I’d forgotten several things Braeden outgrew. Ankle braces, acid reflux, severe feeding difficulties among a few. From parents of the few patients who are older than Braeden, I’ve gotten similar comfort. The main thing being that this doesn’t appear to be degenerative.

The slightly unnerving part of that, is that we don’t know for certain. This Syndrome was only discovered a few short years ago. 2015, I believe.

I’ve chirped about this on Facebook incessantly over the last month. Today I needed to write about it here, to unburden myself of how overwhelmed I am. There are so many moving parts to Braeden turning 18, and this diagnosis is so profound right in the middle of all of those things….today I’m feeling the weight of it all. Today I’m exhausted. And hell, for shits and giggles, my body decided to throw another health crisis for me into the mix. Hello kidney stones, my old nemesis. I passed one during Braeden’s birthday week, and there are 4 more waiting in the wings. Today I have low back pain again, and I am in a cold sweat that another meteor is ready to bust loose.

Today the weight of all of it is heavy.

Today I’m allowing myself some tears, some escape TV watching, and grace for not accomplishing anything on my to-do list.

Tomorrow, I will fill out the research questionnaire online, and register Braeden so that his medical history can be used to further the medical community’s knowledge about KAT6A Syndrome.

Next month, I was gifted airline tickets so I can attend the second annual KAT6A clinic. I’m so looking forward to meeting other people with this syndrome, and their parents who truly understand what this life is like. I think it will be very emotional and uplifting. I’m excited to learn more from the researchers and doctors who are working hard to learn more about it.

For the rest of today…..grace. Giving Braeden a bath. Reading to him for awhile before bed time. Packing his bag to take him to work with me tomorrow. Tonight I will read something that isn’t geared toward finishing the guardianship process, or healing my kidney stones and thyroid and skin cancer. Tonight I will spray my pillow with lavender, and meditate. Tonight I will turn off my brain and sleep. Tonight I will be *brave* enough to *believe* that things are always working out for us.

by Sonia

Read more from Sonia at her personal blog https://andhecallsmemommomm.wordpress.com/

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It feels funny even writing this title, Special Needs Child, what does that mean? All children are special and have different needs. It might be easier to use the other “label” we have recently received medically fragile/technology dependent to describe my son, Toby.

Growing up in a small urban community of 30,000 during the 70’s and 80’s, you knew most people and while there were some kids that needed a little extra, there weren’t many. Unfortunately it wasn’t till I got married and started coaching swimming with Special Olympics that I became involved with the disabled/handicapped community. Over the 15 years that I spent with the team I learned a lot and made some great friends (some of whom now call my son their friend as well) but I will get into that latter.

Zachary my older son was born healthy and only spent the minimum time in hospital. Even to this day he is overall healthy and has developed normally hitting the developmental milestones by which the doctors measure a child. Almost 2 years later my son Toby was born. This was a very different experience.

Toby was born 8 days early on a Friday the 13th. I had to travel for business and was flying home when the doctors delivered him by emergency c-section. My wife had labored part of the night and my parents had come down to take her to the hospital and look after Zachary. When my wife arrived at the hospital she was already dilated but her water hadn’t broken. The doctors discovered that Toby was sideways and tried to turn him before delivery. The doctors discovered that Toby was in distress so decided to do a c-section with epidural. After they broke her water, the doctor’s lost Toby’s heartbeat and decided that they needed to do an emergency c-section with a general anesthesia. When delivered, Toby was without vital signs and had to be resuscitated. The pediatrician was on the phone with the doctors who did the delivery rushing to the hospital in his car so the anesthesiologist and the delivery room nurse resuscitated him. As the doctors weren’t sure how long he was without vital signs and he was having difficulty breathing, they put him on oxygen and rushed him into the special care nursery.

When I landed at the hospital, I called home expecting my wife to be there only to be told that my mother had taken her to the hospital a few hours before. I then called the hospital and spoke to one of the nurses who had just come on shift. All she would tell me on the phone was that it was a boy and he had been delivered by c-section and I should try to get to the hospital as soon as possible. When I arrived at the hospital, I headed right to the maternity ward expecting to find my wife, my mom and my son there. I was told that my son was in the nursery and I could see him but my wife was still recovering from the c-section. I visited with Toby for a few minutes and then went to see my wife who was just coming out of anesthesia. It was different seeing him, all hooked up to various monitors and on oxygen to help him breath. Later that day the doctors came to see us and discuss some of what had gone on during the delivery and they continued to monitor him in the nursery. My wife wasn’t able to get into see him till later the next day as they didn’t want her tearing the stitches. I made sure that Zachary came in to see his mom and new little brother.

Over the next few days, the doctors continued to monitor him and run various tests including head ultrasounds, CT scans, x-rays and bloodwork. Most times the nurses were really good and would let us know when the tests results were received, but the CT results seemed to take forever to be received. Eventually they said that the doctor was coming up to discuss with us. Shortly before the meeting, an unknown individual showed up in the nursery. She spoke with the nurses in hushed tones and this is when I started to suspect that something might be seriously wrong. The doctor arrived and as there were other parents in the nursery asked us if we would like to step across the hall to discuss the results. As we were leaving the nursery, the unknown woman followed and picked up a box of Kleenex on the way out the door. At this point, I knew we were starting a difficult journey. The doctor and social worker discussed the test results. They showed that Toby wasn’t developing as expected. They indicated that they could do further testing here at this hospital but would have to send the results to a children’s hospital about 15 mins away to have them interpreted or they could see about transferring him to the children’s hospital where all the testing could be done and we would have all the pediatric specialists we might need at our finger tips. This was day 5 after delivery. They suggested that we go home that evening (first time my wife had slept away from the hospital since Toby was delivered) and let them know in the morning.

The next morning we went back and met with the doctors. We felt that it was best to transfer Toby to the children’s hospital and so our 5 week journey there began. During his time there, more tests were done, specialists consulted and he continued to monitor for what the doctors called “failure to thrive”. During this time, my wife lived at the hospital and I tried to work, manage home and spend time with Toby. Zachary got to spend quality time with both sets of grandparents and also got to see his brother. Everyone said that he was continuing to grow but not at the rate which they hoped/expected him too. After a total of about 6 weeks in hospital we were finally able to bring him home. His first official trip out was to attend my swim team’s annual pool party and BBQ. The second was to visit with his great-great Auntie who was visiting from the east coast. Over the next year, he continued to be followed by multiple specialists and at a developmental pediatrician. There were a few minor medical issues which were dealt which including club feet surgery (Tendon transfer bilaterally) at 18 months old and strabismus in both eyes at ?. We were told that genetically there was nothing found on the tests done and that they believed the developmental delays he was experiencing were a result of his traumatic birth.

Toby struggled when he started in school because he didn’t speak. We were able to get him additional resources but the education system was recommending that we put him into a communication program which would help him develop functional communication. At age 6 we did this thinking that this would help him and still believed that it was in his best interests to help him grow and develop into the person he was and be able to communicate with those around him. After 3 years in this program, he was making little progress and we were becoming frustrated with some of the “professionals” who were supposed to be working with him. He had not progressed to using assistive communication devices such as his Ipad to communicate and instead preferred to try to verbalize and attempt to speak. At this point while he was able to function at home he was so far behind his peers at school academically that he wasn’t going to be able to return to a regular classroom and we made the decision to integrate him into a lifeskills class. We met with the teachers, school board professionals and made this difficult decision. Since entering this class he has begun to flourish and began to speak more because he was now with classmates who while they all had limitations, most of them did speak and he picked up on this and did start speaking more and his speech began to improve. This improvement continues till today and he is now able to make himself understood verbally in most situations. We see that while his expressive language continues to lag behind, he does understand (receptive language) is much better. We aren’t sure how much of his surroundings he actually understands but it does appear more than he is able to tell us in words.

About 2 ½ years ago we had a number of bouts of pneumonia and our new journey began. Initially they couldn’t understand why he would get so sick from the pneumonia and eventually determined that he had an immunodeficiency. They began treating this and we noticed some improvement. The doctors at our local children’s hospital tried to do a pulmonary function test to determine what if any damage had been done by the recurrent bouts of pneumonia. Unfortunately he wasn’t able to perform the testing at their location due to equipment issues so he was referred to another specialist at a nearby children’s hospital who gathered information, looked at his chest x-rays, did some further testing and came back to us with the question “Is the PFT really the most important thing here or do we need to find out what is going on and work from there?” We agreed that it was more important to determine underlying cause of the lung issues. We went in for what we thought was a bronchoscopy and CT of his lungs to see if they could identify the cause of what they were seeing in the chest x-rays of his lungs. After reviewing the CT the doctors indicated that he appeared sicker than they had expected and admitted him and wanted to run further testing. Over the next 2 weeks he underwent a double bone marrow biopsy, lymph node biopsy and lung resection as well as the bronchoscopy and bronchial lavage (washing of the lungs). All of these came back inconclusive or not clear. No bacteria or viruses grew in the material from his lungs and there wasn’t any evidence of malignancy so they continued to test and coordinate with multiple specialist. After a month as an inpatient they said, that they didn’t know exactly what was going on but we could take him, they would continue to follow him and sent us home with oxygen to used at night and a high dose of prednisone which they hoped would help clear up his lungs, shrink his spleen which was enlarged and hope to see an overall improvement in his health. They also did some genetic testing as they indicated it had come a long way in the years since had testing done at birth.

Months later the results of his genetic testing came back. It showed that he had a “de novo” genetic mutation. It was called KAT6A and had only been identified in the last 3-5 years. No one seemed to know much about, there was not currently any curative treatment and all they could offer was to treat the symptoms caused by it. Through doing research and getting to know others with this rare genetic diagnosis we have discovered that some of the issues he has had at birth are likely related to this misspelling of his genetic makeup but it doesn’t explain his immunological issues. He continues to be treated regularly for the immunology issues and overall his health has improved. He is getting sick less and we are seeing gradual improvement.

At this time, Toby is the oldest of 8 youth in Canada who have been identified and one of approximately 170 in the world, who have this variation in his KAT6A gene. This is still a very rare condition and while we believe that there are likely more people with variant it is a costly and lengthy process to undergo the whole genome sequencing required to identify it.

While it has had its challenges over the years, I wouldn’t trade the experiences and people we have meet over the years for anything. Toby is a happy, loving young man who is growing up and takes his challenges in stride. When he meets a new doctor and they ask if they can poke or prod him to see what an enlarged spleen feels like or listen to his chest, he is more than willing. Just because the doctors say your child is unique or a conundrum, don’t look at this negatively and think maybe by learning about my child they can help someone else.

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Christmas has always been a big deal in our house. All of us, kids and parents, enjoy the feeling of Christmas. We especially love the glittery, sparkly decorations that come along with it. We always have lots of garland, lights, and decorations in our house—you know—all the sparkly fun things kids love!

When you have a special needs child, those things can be either wonderful or horrific. For Holden, who is three and a half years old, it depends on his mood of the day. This year, when we pulled the Christmas tree out of the bag for the first time, we thought poor Holden was going to have a heart attack! A big, green, prickly, scary thing in the house! Holden must have thought it was a big green monster. But we got it set up with all the decorations and lights and he began to be curious about it. Pretty soon he was pulling ornaments off the tree. As the mom of three boys, I will be the first to tell you that the last thing you want is a child pulling ornaments and decorations off your beautiful tree. But when Holden began to do that instead of showing fear or aggravation I was happy! We were all relieved he was no longer scared of the tree and was enjoying having it in the house. We let him explore and figure out that the Christmas tree was harmless and was not going to hurt him.

Like many kids with special needs, Holden does not do well with change, and he has become much more observant of his surroundings over the last year. So many different things can upset him and cause him to be very unhappy. Now that it is the Christmas season, our house is not looking the same as it always does. The first few days with the decorations, he was really confused and upset about the changes. With a lot of patience and some time, Holden has become used to all the new things in the house and is actually starting to enjoy some of them.

Since we never know what simple thing might be the one thing that he just doesn’t agree with, we were worried about what his reaction to Sant Claus would be. Surprisingly, Holden was perfectly fine seeing Santa and sitting on his lap! His older brothers were sitting next to him, so that made him feel safe and secure.

We hope everyone has a blessed Christmas season.

Love,

The Green Family

It has been an exciting few months in our household. We welcomed our daughter, Emma, on July1st, 2018. Jack has been a wonderful big brother thus far. He is beginning to notice Emma more and more each day; there are even times when he seems annoyed by his little sister (as a typical three-year-old might)!

Even though life has been quite hectic since our newest addition arrived, we have made sure to continue with all of Jack’s weekly therapies. One therapy in particular that has made an impact is Aquatic Therapy. Jack works with a PT in the water one on one every Wednesday morning for 45 minutes. Not only does Jack truly enjoy swimming, but the benefits are clearly evident. Each session provides Jack with the opportunity to improve core strength, mobility, balance reactions and range of motion. He is happy and motivated to move in the water. The therapeutic properties of the water allow Jack to move more freely and independently. He tolerates handling, stretching, and active exercises, in conjunction with lots of sensory input. Jack often smiles throughout his sessions and happily kicks and splashes his way around the pool. It goes without saying that physical therapy is so important for our KAT6A kids, but we can honestly say that Jack would not be making all the progress that he is without his weekly time in the water!

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Hello everyone,

I got naturally pregnant in 2013. During pregnancy, the diagnosis of hydronephrosis in two kidneys was reported in the 23rd week at the baby and then issue was followed by doctors.

A caesarean operation was performed at the 38th week due to a decrease in the water in the uterus and an increase in hydronephrosis in the infant’s kidneys.

On February 18 . 2014, Our little boy Rüzgar was born. When we saw him the first time , The doctors told us that Rüzgar was trapped in my abdomen and that he had an uncut testis.

Rüzgar was circumcised with the diagnosis of hydronephrosis in the first week after his birth. Circumcision regulated the left kidney function of Rüzgar and a month later , it was decided by the doctors to undergo surgery for left inguinal hernia.

When Rüzgar was three months old, we noticed that he did not make any eye contact with us and did not follow us. We decided to go to a doctor about this. The doctor said this was not a big problem and they would follow this issue. They also advised us let Rüzgar to watch the cartoons on the television. Doing this, still did not make any progress but we followed the instructions.

In all these processes, Rüzgar was fed with my breast milk. As his sucking reflex was not so good, we fed him my milk with glassess.

When Rüzgar was six months old, he had epileptic seizures. After the result of EEG, we started to use a drug called Sabril and the result of the brain MR was clean. The EEG results in later processes were clean. In the meantime, a serious problem of constipation did not leave us. He was fed with breast milk for approximately 7 months.

During this process, the kidneys were examined frequently . The functions of the left kidney were stabilized but the doctors decided to operate for the right kidney . Hydronephrosis was rapidly enlarged, and kidney stones were made, and the stone pain began to be serious.

On the other hand, Rüzgar started physiotherapy training and an intensive training was going on. We changed the drug Sabril with Convulex syrup for Rüzgar ‘s epilepsy seizures ,because of the serious side effects for eyes . We are still using Convulex Syrup as 75 cc in the evenings – 75 cc in the mornings.

Our neurologist thought that different medicines would be good for Rüzgar . For this reason , we used three curing Cortexin needles. Later, we used following drug, which is used by homeopaths in the name Cerebrum, for three months. In fact, we tried a diet called GAPS, but we decided that it was not suitable for us because of the kidneys. But I think this diet was good.

In the meantime, a diagnosis could not be found, Doctors told us that he was more close to autism.

When Rüzgar was three years old , we went to the genetic doctor. We did some test given by the doctors , but due to lack of technology in Turkey in that time , the prognosis could not be make . The doctors also informed us that the heart of Rüzgar should be checked. We quickly went to a doctor about the heart and learned that there was a hole in the heart that was not serious, but which had to be followed up. This process is still followed up by doctors.

In addition, we have started physical therapy, pool therapies, sensory integration training, and physical therapy using the Anat Baniel Method. With the help of these lessons / trainings, Rüzgar began to sit and crawl. Those days he didn’t make a lot of noise, now he’s turned into a kid who always shouts and tries to make sounds. Now he is standing on his own by the window and started to walk side by side. He still can’t stand up alone, but he can stand up, with support.

Controls of the kidneys is still continuing . In addition, we are in constantly checked because the kidney is still an issue .Besides all this he drools alot, we call it honey mouth

We went to a doctor in Uster city in Switzerland, which is recommended to us about eye focus. He gave us some lights and sounds. Rüzgar can be a good musician in the future , he has a good ear for music and rhythm.

He is the happiest and the most peaceful child of the world When i look at him i thank God for the moments i spent with him . Everyone’s story is different, I know every child is special, but when you look at Rüzgar, especially when your eyes meets his eyes , you will get overfloated with
magic .

Unfortunately we have no idea how to reach him and how to get in his world.

I hope you can be a light and hope for Rüzgar and us.

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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 Community,

On behalf of the KAT6 Foundation Board of Directors, I am pleased to announce the appointment of Aimee Reitzen as the KAT6 Foundation's new Executive Director.

Many of you already know Aimee through her years of service to our community. As a founding Board member and longtime volunteer, she has helped shape the Foundation from its earliest days. Throughout her nearly decade-long involvement, Aimee has led many of the Foundation's communications, awareness, and family support efforts, including developing the KAT6A & KAT6B Caregiver Handbook, launching the Foundation's website, spearheading the creation of the Empowered Grants Program, and helping grow KATwalk from a small grassroots fundraiser into the Foundation's signature annual event. For many families, she has also been one of the first people they connected with after receiving a diagnosis, offering guidance, resources, and a sense of community during an often overwhelming time.

As the parent of a child with KAT6A syndrome, Aimee brings a unique combination of personal experience, professional expertise, and deep commitment to our mission. For nearly a decade, she has worked tirelessly to support families, strengthen connections across our global community, and help advance research and educational initiatives that benefit individuals with KAT6A and KAT6B syndromes.

Since our founding in 2017, the KAT6 Foundation has grown tremendously. Together, we have funded important research, established the Patient Registry and iPSC Biobank, expanded educational resources, launched family support initiatives, supported the development of the KAT6 Clinic at Boston Children's Hospital, and built a truly global community. Aimee has been an important part of that journey, and we are excited to see her step into this leadership role as we continue building on that progress.

Please join me in congratulating Aimee on her new role. I look forward to working alongside her as we continue advancing our mission to improve the lives of individuals and families affected by KAT6A and KAT6B syndromes.

Thank you for your continued support of the KAT6 Foundation and the incredible community we have built together.

Warm regards,

Jordan Muller
Chairperson, Board of Directors
KAT6 Foundation

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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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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.

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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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.