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

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

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

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

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

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

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

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

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

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

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

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When parents have a baby or child with a serious diagnosis, there are many unknowns. One is the future—what will happen as my child grows up. Will his siblings resent all the attention I give him? Will he have friends? Will he have a place to belong? Will his life have meaning? Will I be able to meet his needs? Will that be enough? Are all our dreams of the future shattered?

Here is Sam’s story.

Sam was born in August 1990 six weeks prematurely. Nothing was right, even from the start. He didn’t breathe, he couldn’t regulate his body temperature, and he couldn’t eat. And things didn’t get too much better very fast. He had bradychardia, he had strange breath-holding spells (or were they seizures?) when he would turn blue and pass out. He spit up a lot, he had terrible screaming spells, he had pneumonias, he wasn’t moving normally, his developmental milestones weren’t being met…he was blind. That was just the first four or five months. At eight months we found out he had an intestinal malrotation and needed surgery for that as well as a nissen fundoplication and g-tube placement. That was the first of many intestinal surgeries and hospitalizations. At age three there was another suspicion that was confirmed —he also had autism. We spent so much time at Maine Medical Center in Portland, Maine, that he and I virtually lived there. My husband and our older daughters, ages 11 and 14, shuttled back and forth to “visit” us. There were so many doctor and therapy appointments, so many evaluations and tests, procedures and surgeries that about four or five years passed in a blur. See, I don’t even know how many years!

But gradually Sam was better intermittently, and we adjusted to our new life. He eventually sat up, crawled, and learned to walk with a walker. He did not learn to talk, and he still had a lot of medical problems and developmental delays. He had insomnia. It turned out that he wasn’t blind in the ordinary sense, but he did have cortical visual impairment. It was pretty clear that he was never going to be very much like any other kid. He had very strange, maladaptive behaviors and a lot of screaming when things weren’t the way he thought they should be (like, if the car turned right and he liked left turns). It was pretty clear he was not going to be very much like any other kid. There was a lot to be scared about.

He started “home” school at a few months of age — vision therapy, physical therapy, occupational therapy, developmental therapy, and then some kind of autism therapy. By age 2.5 he was off to special preschool in the mornings and the individual therapists came in the afternoons. Too much therapy!! But at age 4 we began a new kind of therapy, Applied Behavior Analysis — at school and at home. That was a great turning point. We finally had everyone on the same page, working as a team. And if they didn’t want to get on board, they got out. We were learning too.

About the time Sam was turning five, our family made some decisions. It was pretty clear that I couldn’t work outside the home because there was no daycare or provider for Sam. His doting sisters were now 19 and 16 and it was pretty clear that Sam was the center of the universe to all of us…was that the best thing for him? For us? We had the bright idea that we could put our newfound skills to work, give me a “job” so I wasn’t so totally focused on Sam, and provide siblings to Sam nearer his age. A win-win!! The job? We became a treatment foster family. This means that we provided a home to kids with developmental or mental health issues.

Ho ho ho! and it wasn’t even Christmas! First came a couple of sisters aged 11 and 12 — not exactly the little boys Sam’s age that we had pictured, but they definitely became siblings, made our lives more lively, and kept us from over-focusing on Sam. They stayed with us until they were ready to spread their wings and fly. Next came another girl…this time only six years old, then a few years later a girl aged 11. Again, these kids were permanent siblings — Sam, and the two younger girls were each only a year apart in age. We had many others in and out temporarily while they were either working on returning to their birth families or moving on to a different situation, or just for regular respite.

So Sam was never lacking for siblings…especially sisters. It wasn’t always easy, it wasn’t always pretty, but it was our family. It was a hopping household for sure.

Meanwhile, Sam grew, and grew older. He had his intermittent emergency hospitalizations, usually related to his gastro-intestinal abnormalities. He had a few surgeries, lots of doctor appointments, lots of testing, some ups, some downs. When he was 10, we had to leave our hometown due to the paper industry going belly-up…from human resources in a very large paper company, David moved to human resources in a small hospital, and we moved 50 miles down the road. We decided it would be a good move and adjusted to new providers, a new school system and a new house. And good news! We were now 45 minutes closer to the nearest service town! Since we have always had to make that trip to Bangor at least once a week and sometimes daily, that was a big deal. And the ambulance could get to Portland 45 minutes quicker too…always look on the bright side of life!

And so time passed. Sam went to school — there were ups and downs. He developed an exaggerated startle reflex, hyperekplexia, which further compromised his ability to walk. We spent untold hours advocating at the state and local level for appropriate services. We had a few unpleasant experiences and we had a lot of pleasant experiences. He had some wonderful teachers and after-school staff, he had a few not-so-good ones. We traveled a lot: by planes, trains, and automobile and had a lot of amazing adventures with our crazy family. Sam never learned to walk independently or to talk, but he learned to get around and he figured out how to communicate in his own way. (He had to with all those sisters!) He made friends, oh boy, did he make friends! Time flew by, and then it was time to cross over into the dreaded “other side”…adulthood.

And you know what?? It is great here!

Bored? Lonely? Stuck at home? Never!! Over the past few years Sam has truly found his place in life.

One advantage of living in a very rural area is that there are no “day programs” —Sam has one-on-one staff for 37.5 hours a week. They are busy — with Special Olympics, their self-advocacy group, friends, and community groups all over town. He has one special volunteer job, and participates in lots of other special projects, for instance, they are planning a special KAT6A fundraiser for spring, because Sam finally has a diagnosis, and a cause, and his friends want to help. Sam has more friends than I do!

He still lives at home with us because that is what we choose. And because we find it more difficult to travel now that Sam is a grown man, we have turned our property into a full-fledged redneck resort, just for Sam and our family and friends. If we can’t go to them, we want them to want to come to us, and they do come! Three of his sisters left home, went out to explore the world, and then came home to Maine. Along the way they found and married three very special men, who love Sam almost as much as his sisters do. Another sister lives in a nearby town. There are children, dogs, babies, friends, and family underfoot constantly…and adventures to be had with all of them. Uncle Sam is a great favorite — who else’s uncle can play with toys the way he can?? And Sam has lots of fun grown-up toys everyone wants to share!

He makes a difference to many and has a fulfilling, meaningful place in his family and community. His greatest gift is making people feel loved—his smile can light up a room and his hugs make troubles melt. He participates. He contributes. There isn’t anyone who knows Sam who doesn’t love Sam. What more could anyone want?

It is not the life I pictured when I married my handsome prince nearly 43 years ago. But it is a far cry from the life I feared and worried about twenty years ago.

Life is good here on the other side with Sam.

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When I first discovered that I was pregnant with Savannah at just 8 weeks something immediately felt off. Having a child before I found myself questioning that I didn’t feel any clear signs or symptoms of pregnancy. I remember thinking that something might be wrong and that unfortunately my body may reject this unexpected and precious gift. I worried and wondered until we had our first OB appointment at 13 weeks. When I saw her little heartbeat I was so relieved!

Just when we thought we were in the clear the ultrasound tech said she had to bring in a doctor. My heart sunk and I knew in that moment that my instincts had been right. There was a problem with our growing baby. The doctor came in and kept quiet as he circled the same area of my abdomen over and over again. He finally looked at my husband and I and said, “one kidney is extremely large, much larger than it should be at this time.” He explained nothing further and said we would need to be followed by a maternal and fetal health specialist.

This is when our journey really began. We followed up with the suggested specialist where we were informed that she had “hydronephrosis” essentially a birth defect that was causing her to retain urine in her kidney. We were informed that she had a 30% chance of having other birth defects as well that may not be seen via ultrasound. We were asked if we wanted an amnio and then the dreaded topic of abortion was presented. We denied both. There was lots of talk of a premature delivery or the possibility of inducing me early to perform emergency surgery on her kidney. A ton of worry, stress and fear had fully taken over. We continued to see our specialist along with our regular Ob-Gyn over the remaining course of the pregnancy. I had more ultrasounds and non stress tests than I could keep track of.
I went into premature labor at 28 weeks and again at 32 weeks, I was given medication to reduce contractions and shots to mature Savannah’s lungs; just in case we couldn’t keep her in any longer. Luckily she stayed put just long enough to make it full term, 37 weeks ! She entered the world at 6 lbs. 3 oz. She was BEAUTIFUL!

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During her initial physical it was noticed that she had a cleft palate, microcephaly, bilateral Simian creases and several other markings that appeared to be syndrome like. But strangely for the first time since finding out we were expecting, I had no fear. I looked at her beautiful little face and I felt at peace. I knew that we had a lot ahead of us but I also knew that we would be ok. She had some breathing difficulty and was refusing to eat, so she was transported from her birth hospital to a major medical facility several hours away.
We met a team or physicians in the nicu, a geneticist, a cardiologist, a pulmonologist an ophthalmologist, and a neurologist. They immediately began to test Savannah for every possible syndrome they thought she might have. Test after test came back negative or normal. We had an extremely hard time with feeding, and she just wouldn’t eat. A therapist came in to work with her do to her cleft palate, but still no luck. It was at that point that a gastroenterologist wanted to perform a scan to make sure that her everything was okay with her intestines. Her results came back that she had a malrotated intestine. (another birth defect)

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At 2 weeks old, Savannah went through surgery to correct this problem and have a G-tube placed. We spent another 6 weeks in the NICU before being discharged with no answers. After Savannah came home she started to have serious blue spells, she was re-admitted to the NICU for an additional 2 weeks to run further testing where it was discovered that she had severe reflux. With anti-acid medication and a pulse ox monitor we were finally going home.

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Weeks and months were flying by and all although Savannah wasn’t growing much she seemed healthy. We continued to have follow-up appointments with all of her specialists and tested for new syndromes with every chance we got. Months turned into years. Savannah had severe developmental delay and did not sit unsupported until she was 18 months old. She began to crawl at 2 and 1/2 years old and pulled to stand for the first time at age three. She was seeing therapists multiple times a week for feeding, speech, occupational and physical therapy.
When Savannah was three and a half years old she woke up late one morning (not like her), she appeared to be getting sick, no fever but she looked sleepy and was occasionally gagging. In just a few short hours it was clear that Savannah was in serious distress and something was terribly wrong. We rushed her to the ER, she had to be transported to a nearby hospital via helicopter where it was confirmed that she had a large bowel obstruction. Her body was going through septic shock and she had to be put in a medically-induced coma immediately. She was sent in for emergency surgery where they corrected the obstruction and resected several inches of dead bowel. She required 3 blood transfusions and was left open for 24hrs before they had to take her back into the OR and & resect yet again. She had an extremely hard and difficult recovery ahead of her. She was kept in a sedated coma for 3 weeks total and against all odds was able to fight through the worst time in her life and come back stronger than ever!

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A few months later at our annual follow up with our geneticist she had mentioned that she would like to try to get Savannah approved for whole exome sequencing. It was through this test that a diagnosis was finally made! 4 years later! Savannah’s test had come back with a spontaneous nonsense variant in her kat6a gene. At the time we were told that she was the second person EVER to be diagnosed and we had no idea what it meant or what to expect. We agreed to have her results and findings published in hopes that others undiagnosed wouldn’t have to go through years of not knowing.
We researched Kat6a endlessly, we tried to find anything and everything we could online and in medical books, but got nothing. 2 years later we finally found a website randomly on the internet about a child with kat6a! Finally we weren’t alone! We reached out to the family and to our amazement we discovered that there was a Facebook page where families who had loved ones diagnosed were coming together! Several more diagnoses had been made! It was astonishing to see the similarities in the facial features of our children and to hear how much they were all alike. Little by little our group was growing.

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Our published papers and reports were working, our consent to make Savannah’s results from exome sequencing public had allowed other families to find hope and answers as well. Today we are still searching for help, understanding and treatment. Not much is known about kat6a but we are now at one hundred and seven people strong and we will not give up!
Savannah is now seven years old, she still has many difficulties in life but with perseverance comes progress. I’m thrilled to share that she just learned how to walk independently this year! She is a complete Joy to be around, so easy going and happy all the time. We couldn’t imagine our lives without her and without doubt we are better people because of her! Looking back on Savannah’s story isn’t easy she’s been through more tests, procedures, surgeries and obstacles than anybody I know. As her parents we have had to face plenty of heartache, frustration and anger along the way but who doesn’t!? Life is a beautiful struggle sometimes and as long as we can help just one person to find hope, and happiness through her story then it’s worth reliving it a million times! We try to take things one day at a time now and try to live each day to the fullest ; instead of living in fear of the unknown. We are so proud of savannah, how far she’s come and all of her accomplishments and we look forward to all the happiness and triumphs for her that are still yet to come.

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Will was born in 2015 at 41 weeks and weighed a healthy 7 pounds, 12 ounces. We thought he was the strongest baby in the world because he held his head high immediately after delivery. I have the most amazing photos of him, minutes old, laying on my chest pushing his own chest and head up. It was impressive to my husband and the delivery nurses, but I know now that should have been our first red flag. In the week following, whenever he was placed on his tummy, he would roll over. We were so proud of our super baby and we joked he’d be walking by nine months. When I mentioned this to his pediatrician, she seemed to think it was a fluke and that this rolling wouldn’t persist. Breastfeeding was a huge struggle. It was extremely difficult to get him to latch since his body refused to relax, but I chalked it up to being normal since not all babies are natural breastfeeders and I succumbed to exclusively pumping when his pediatrician wasn’t satisfied with his weight gain. By three months it was evident that his muscle tone was much higher than it should be. His hands were permanently fisted and creases had formed by his elbows and knees since he kept his body scrunched up at all times. It was nearly impossible to stretch out his body for an accurate length measurement. That’s when we first discovered the term hypertonia, which would begin our journey to finding answers.

At four months we were referred to a neurologist. The first neurologist did an EEG and it was normal. He found his head percentile to be less than the tenth percentile, but that was not concerning. Since his other milestones were on pace, such as smiling, laughing and eye contact, we held high hopes that through some physical therapy that he would loosen up. After an evaluation by our local Early Intervention program, he was disappointingly denied services since his high muscle tone had not resulted in a delay in any of his milestones. In fact, he was able to sit for a few seconds on his own. So I was left with some daily stretches to do with him.

At five months my concerns grew and I decided it was time to get him physical therapy privately, so I called the physical therapist who had done his initial evaluation. At this point he had stopped rolling over and wasn’t tracking objects and was having intense sleep issues since his body just couldn’t seem to settle. Upon my first session of private therapy, the physical therapist noticed his regression immediately. She expressed great concern for my little boy and recommended that I see a different neurologist and she personally requested a new evaluation through Early Intervention since she had no doubt he would now qualify.

By six months, Will’s head percentile had fallen to the third percentile. The new neurologist that we saw prescribed a brain MRI and an array of blood work due to his poor reflexes, hypertonia, poor visual tracking, gastrointestinal issues, difficulty feeding and microcephaly. The results of the MRI and all the blood work were normal. So the next step was to see a geneticist to rule out any rare genetic disorders. The initial genetic testing all came back normal including the microarray test. We were thrilled and very hopeful that Will would outgrow these symptoms since each specialist’s general impression of him was fairly normal and we were repeatedly told that “he looked good.”

At a follow up visit with the geneticist at nine months, he suggested that we do Whole Exome Sequencing since our insurance agreed to cover its cost. In the several months that we waited for test results, Will’s development began to improve. His head size stayed at the same percentile, he was tracking objects, sitting independently, playing with a variety of toys in his jumper, swallowing purees and began crawling just after his first birthday. So at fourteen months when my husband and I were given the KAT6A diagnosis, we were extremely shocked and devastated since we had convinced ourselves that the test results would come back normal as they had in every other instance. At that time we were told that there were only a dozen others in the world with this diagnosis and that they were nonverbal, profoundly intellectually disabled, and in most cases had heart conditions. We were told to see cardiology immediately and to think about signing in the future since the literature stated that some of the children communicated that way. It felt like our world had come crashing down. It had never dawned on us that our baby may never talk, learn to read, live independently or likely have serious health problems.

In the following days and weeks, I read anything I could get my hands on and was determined to understand the science behind it. After cardiology ruled out any abnormalities, I felt some anxiety lift. I dedicated my time to making sure that he would receive the highest level of early intervention therapy that was available, and so I requested speech/feeding services and small group therapy in addition to the PT, OT and teacher he was already receiving. My husband and I also did a lot of grieving and worrying during this time. You name it, we worried about it.

Two months after D-day, as I sometimes refer to it, I decided to reach out to the email address on the Chloekat6a.org website. That’s when I learned about the Facebook support group and my life forever changed. I found on the support group that Will was actually the 40th child diagnosed and that there was even a mother of an adult in our group. I cried as I watched videos of children riding their bikes, swimming in pools, fluently signing, talking and even doing math. This page portrayed so much love and hope that I could never have gotten out of reading technical research articles. Despite a huge range in abilities, I could see evidence of joyful kids every where and that is when I knew that this diagnosis would not define Will or our family’s happiness. I was truly overwhelmed by the number of people who reached out to me to share their stories, offer information and emotional support.

Through the support group, I was connected to Dr. Richard Kelley, and under his advice started Will on a mitochondrial cocktail shortly after his second birthday. The effects of the cocktail were noticed almost immediately in Will. His stamina and energy increased, constipation improved, he began eating solid foods rather than solely purees, and within weeks began walking independently.

Today, Will is a healthy 2 1/2 year old. He is the sweetest, happiest, most lovable boy with global developmental delays. He is very active and into everything. Many of Will’s developmental issues relate to motor planning difficulties and some lingering muscle tone issues. He is a solid walker and climber and is working on walking up/down stairs independently. He has four signs that he uses regularly to communicate and a few words that he uses from time to time. His receptive language is significantly better than his expressive. He loves to identify body parts and follows simple commands, such as “put your bottle in the sink.” He has some difficulty eating, but this has improved greatly with the help of a feeding therapist. Currently he eats a variety of foods cut into small pieces, and we are working on tearing pieces of food with his teeth himself, such as taking a bite from a slice of pizza. He has fine motor delays and does not have a proper pincer grasp. He has some sensory issues, but they are manageable. He mouths objects frequently, hates having his teeth brushed, covers his ears at loud drawn out sounds such as the vacuum, loves movement and is very stimulated by light. He sleeps well at night, but naps inconsistently. He is beginning to develop a playful relationship with his five year old brother, which is beautiful to see.

Parenting Will has allowed me the greatest highs and lows of my life. He has taught me to rejoice in the little things that I took for granted with my older son. He has amazed me with his persistence and determination. And although he cannot say it, he shows me so much affection in his tender touch and nonverbal request for a kiss. His laugh is contagious and everyone who gets to know him can’t help but fall in love his sweet soul.

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Franki was born on Mother’s Day 2016. Shortly after he was born the paediatrician informed us that he had been born with a few birth defects that, by themselves, shouldn’t amount to anything to warrant us to worry about. But we did. We were shattered and overcome with anxiety. Little did we know then, that it would take an 18 month journey of worry, uncertainty and frustration before we would receive the life-changing diagnosis of KAT6A Syndrome.

Franki’s fight began 5 days after birth when we were told by his craniofacial surgeon that Franki would need to have major cranial surgery to repair his sagittal Craniosynostosis at 3.5 months of age. Before we could schedule this in, Franki underwent emergency surgery to repair an inguinal hernia at 4 weeks of age and in doing so they also performed an Orchiopexy to correct his other Cryptorchidic birth defect.

By 6 months of age, he had missed several important milestones such as being visually attentive and tracking objects or recognising faces, tolerating tummy time, rolling over and sitting up. Franki’s hands were also permanently fisted, held up to his face and he regularly arched his back and twisted his legs – all red flags for what we first feared may have been due to Cerebral Palsy, but later discovered was due to something called Dystonia, a neurological muscle movement disorder.

Looking back, we knew from the very start that there was something very wrong with our blue eyed baby boy. Breastfeeding Franki proved immensely difficult, made worse by a double tongue and lip tie. He had severe reflux (and still does) which we sought medication for, suffered terrible colic and constipation (now managed by daily medication) and cried incessantly all day every day for much of his infancy, so much so that we nick named him Cranky Franki during these episodes.

We received the heart breaking news that Franki had cerebral vision impairment after first suspicions of delayed vison maturation had not improved by 7 months. A very poor sleeper by nature, Franki’s irritability grew, much to the mystery of his doctors at the Princess Margaret Hospital for Children here in Perth.

By 8 months of age, and after many trips to the hospital and various doctor’s appointments later, Franki was diagnosed with global developmental delay and so started his multi-disciplinary therapy journey and our first appointment with the genetics team followed soon after.

AT 15 months of age, Franki had his first 7 minute seizure. He underwent many tests including CT’s, MRI’s, EEG’s, a lumbar puncture, ultrasounds and x-rays. All genetic tests also came back unremarkable and within normal limits. Fast forward to November 2017, the Genetic Services of Western Australia had almost exhausted all testing available to them until they detected a pathogenic variant on his KAT6A gene from a Massively Parallel Sequencing via TruSight One test. We then learnt that Franki was only the 107th person in the world to be diagnosed!

Aside from his many challenges, Franki is a very affectionate and warm natured little boy whose smile, is pure magic, and whose determination to succeed is inspiring to all that know him. Currently, Franki is still non-verbal, but is now sitting independently at 18 months and continues to surprise us every day. Whilst his diagnosis is bittersweet, it is validation for the concerns we suspected from the very beginning, and ultimately, it has enabled us to forge a strong connection with other KAT6A families who share the same unique journey, all over the world! Pretty special, indeed.

If you are interested in learning more about Franki’s story, visit http://frankijulesmoura.net/

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Coucou..je m apelle Chloé..j ai 16ans et demi
Maman va vous raconter un bout de mon histoire
Il a fallut 16ans et 5 mois pour enfin trouver le nom de la maladie: KAT6A je suis là seule à ce jour diagnostiquer en Belgique
16 longues annees de combat… a frapper à toutes les portes.. un parcours du combattant…de douleurs..de peur..de doute..de pleurs…d angoisse et d impuissance et surtout seules face à ses médecins qui ne comprenais rien..
Un merci tout particulier à mon généticien qui n a jamais baisser les bras et à la cardiologue qui nous a jamais abandonnée..et a mamy et papy
Mais nous n avons jamais perdu espoir
Chloé est une vraie petite guerrière..a traversée déjà beaucoup trop d opération et de souffrances du haut de ses 16 ans
Son sourire..sa force..sa joie..son courage..son amour..sa persévérance.
Une vraie merveille
Mon diamant! mon trèfle à 4 feuilles,unique elle est extra-ordinaire.

Née à 39 SA..2kg820..TN:47cm..
PCN:31,5cm
-Microcephalie pré et post natale
-apnee du sommeil
-Assise à 2 ans..et la marche à 2ans et 8mois
Épilepsie
-Absence de language..a ce jour dis quelques mots une trentaine et le plus beau “maman Je t’aime” a 15 ans et essaye de se faire comprendre
-Artere sous claviere droite rétro oesophagienne
-RGO important
-difficulté alimentaire avec nécessité de gastrostomie et nyssen a l âge de 2 ans
A ce jour Ne mange plus du tout à part du liquide par biberon ou à la paille
-intolérance aux bruits
-déficience intellectuelle retard mental
-bruxisme important
-sommeil agité et très difficile
-Opérer d une CIA a 5ans
-fuite valve mitrale
-Hypotonie
-amyotrophie
-atrophie musculaire ne pèse plus que 38 kilos
-Pieds et mains toujours froids
-Hyperlaxite articulaire douleurs intenses dans les membres:dérivé de morphine
-coudes inversé
-Cyphose dorsale
-scoliose
-instabilité des rotules luxables
-troubles du comportement
-Dysfonctionnement du tronc cérébral responsable de trouble de la fonction alimentaire majeurs
-Opérer 2 fois des dents trop petite mâchoire
-anévrisme de l aorte ascendante stade 3
Prise de betabloquant
-constipation sévère impossible à gérer
-ventre toujours gonflé et remplis d air
-dépendante de moi pour les gestes du quotidien:habillage,toilette,manger
– a besoin d une chaise roulante pour ses déplacements car plus de tonus musculaire..fatigue et douleurs

Chloé a aussi une profusion de naevus plus de 100
Des exéreses ont déjà été réalisé sur plusieurs car ils étaient très suspects heureusement ils étaient benins
A ce jour elle dois encore se faire opérer de plusieurs naevus qui semblent très dangereux
Mon généticien pense que j ai aussi une autre maladie qui engendrerait une profusion aussi importante
Voilà vous savez les grandes lignes
Je voulais juste remercier ce groupe..ces parents incroyable et ses petits héros qui sont devenu comme une famille..un repère..un phare qui m’éclaire.
Par Carine
English Translation:
Hello..I call myself Chloe..I am 16 years and a half Mom will tell you a piece of my story It took 16 years and 5 months to finally find the name of the disease: KAT6A I am here alone to date diagnose in Belgium 16 long years of fighting … knocking on all the doors .. an obstacle course … of pain … of fear..of doubt … of tears … of anguish and impotence and especially alone in front of his doctors who did not understand anything .. A special thank you to my geneticist who never give up and to the cardiologist who has never abandoned us … and has mamy and grandpa But we have never lost hope Chloe is a real little warrior … has already gone through far too much surgery and suffering from her 16 years His smile, his strength, his joy, his courage, his love, his perseverance.

A real wonder My diamond! my clover with 4 leaves, unique it is extra-ordinary.

Born at 39 SA..2kg820..TN: 47cm .. NCP: 31,5cm

-Microcephaly pre and post natal

-Sleep Apnea

-Seated at 2 years old..and walking at 2 years and 8months Epilepsy

-No language..a date say a few words about thirty and the most beautiful “mom I love you” at 15 years old and tries to be understood

-Arte under right retro esophageal keyboard

-RGO important

-difficult food with need for gastrostomy and nyssen at the age of 2 years. To this day does not eat anything other than liquid by bottle or straw

-noise intolerance, mental retardation

-bruising easily

-sleep agitated and very difficult

-Operate a CIA at 5 years

-passed mitral valve

-Hypotonia

-amyotrophie muscular atrophy weighs only 38 kilograms

-Feet and hands always cold

-Hyperlaxitis articular intense pain in the limbs: derived from morphine Inverted

-Cyphosis dorsal

-scoliosis

-instability of luxable patella

-troubles behavior

-Brainstem dysfunction responsible for major food function disorder

-Operate teeth twice too small jaw aneurysm of ascending aorta stage 3 Betablocking

-serious constipation unmanageable

-always inflated and filled with air

-dependent on me for the daily gestures: dressing, toilet, eating

– needs a wheelchair for his movements because more muscle tone … fatigue and pain

Chloe also has a profusion of more than 100 nevi Exereses have already been made on several because they were very suspicious fortunately they were benign. To this day she still has to undergo surgery of several nevi that seem very dangerous. My geneticist thinks that I also have another disease that would generate such a large profusion. Here you know the main lines. I just wanted to thank this group..this incredible parents and her little heroes who have become like a family..a landmark..a lighthouse that enlighten me.

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Our sweet son Holden was born in April of 2015. He was diagnosed with KAT6A in December of 2016. The doctors told us there were issues present during the pregnancy. Holden had enlarged kidneys and calcium deposits on his heart and bowel. We saw a few specialists and had some tests ran but nothing showed any major problems. I was also diagnosed with oligohydramnios (low amniotic fluid) due to his kidneys during the second and third trimester of my pregnancy with Holden. He was delivered emergency C-section at 36 weeks at our local hospital. We noticed right away that he was having a hard time sucking therefore he couldn’t eat, he also was very small only 4lbs 14oz. The doctors decided it was best that he be treated at a neonatal intensive care unit a few hours away. That was the hardest thing as a mother that I have ever had to do, watch helplessly as my precious newborn baby was rushed in an ambulance to another hospital so far away. He spent about 5 weeks in the nicu. They ran so many genetic tests on him and everything came back normal. While he was in the nicu we learned that he had hydronephrosis of the right kidney, his testicles were ascended, and he had mal rotation of his intestines, among other small issues such as hypertonia, hypotonia, low set nipples and ears, bilateral ear pits and a bicuspid aortic valve. Holden also had to have a g-tube insertion and surgery on his intestines due to the mal rotation.

He got to come home from the nicu when he was around 1 month old. We were set up with many specialists to see over the next year including cardiology, neurology, plastic surgery, neuro surgery, G.I, urology and genetics, hoping to find out what was causing Holden so many issues. When Holden was a couple months old we learned that he has a rare eye condition called CVI, he also has astigmatisms and is near sighted. Holden was also diagnosed with microcephaly and a neck condition concerning his c1 and c2 vertebrae. We got set up with our local CDSA agency and now have awesome therapists to work with. Holden receives P.T., O.T., vision and speech. When we saw our genetics team when Holden was just a few months old they set us up with a research program that offered whole exome sequencing. It took about 6 months but they gave us the answer we had been looking for, for almost 2 years, that Holden had a rare syndrome called KAT6A.

Holden has had 3 surgeries since birth, the mal rotation of his intestines, deflux of his right kidney, and had his testicles descended surgically. He will have one more surgery this year on his neck. He is going to have his c1 and c2 vertebrae fused to his skull because they did not form properly. We pray that will be his last.

Although Holden has been faced with so many challenges medically and physically he has accomplished so much. He was sitting at 16 months and beginning to eat pureed foods. Now that he is going on 3 years old he is crawling all over the place and chasing his brothers, and he is eating all kinds of pureed foods with texture added. We are so very proud of him! It is truly amazing to us what this sweet boy is capable of and we know as his family that the sky is the limit. He is the sweetest most loving child I have ever met. He loves his two older brothers and our dog. He loves bubble baths and funny noises. Holden just lights a room with his smile. We are very confident that he will walk and communicate with us through signs and/or verbally.

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Madison is 3 years old and was diagnosed with KAT6A a few months ago.She is non verbal and doesn’t walk yet. She does shuffle her bum along the floor very fast and holds on to things to get around. She is the happiest little girl on the planet.  She has low muscle tone and a hole in her heart.  She also has severe gastro, which she takes omeprezol for everyday and is on melatonin for sleep at night.  Her older brother and sister love spending time with her as do we.  She started nursery school in September and is loving it.  She is a joy to the world.

Peter,

Je t’aime beaucoup

Tu es le premier petit-fils de la famille

Et surtout le frère ainé de tes frères et ta sœur

Qui sont charmants

Paul, John

Et Mary

Tu es le trésor que le bon Dieu a donné à papa Emile et maman Natacha

Toi le bien aimé pour ta beauté exceptionnelle

Qui avec la temps devient rayonnante dans la famille

PETER

J’aime ta tendresse envers tes frères et ta sœur

Surtout pendant le jeu et au moment du dejeuner, calme, fin et silencieux

Tu es devenu l’enfant préféré de la famille

Et le but de tes grand-parents est de t’acheter des cadeaux

Et les habits les plus chers

Dignes d’un prince come toi très cher Peter

Moi ton grand-père qui a visité l’Amérique pour quelques jours

Je t ai entouré avec mes mains et tu t’es assis sur mes genoux

Que des fois j’ai prié le bon Dieu

Qu’il me permet de te voir de nouveau

Mais je le prie surtout

Pour qu’ il fait son miracle de te guérir de ta difficulté

Et que tu t’exprimes comme tes frères et ta sœur

Sans difficulté à prononcer les mots

Que Notre Dieu tout puissant accepte

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English translation:

Peter,

I love you so much

You are the first grandson of the family

And especially the older brother of your brothers and your sister

Who are charming

Paul, John

And Mary

You are the treasure that God has given to Father Emile and Mother Natasha

You are so loved for your exceptional beauty

Which with the time becomes radiant in the family

PETER

I love your tenderness towards your brothers and your sister

Especially during playtime and at lunch time, quiet, calm and silent

You have become the favorite child of the family

And the goal of your grandparents is to buy you gifts And the most expensive clothes

Worthy of a prince like you dear Peter

I, your grandfather who visited the USA for a few days

I surrounded you with my hands and you sat on my lap

How many times have I prayed to God that he allows me to see you again

But I pray him especially to do his miracle to heal you of your difficulty

And that you’ll be able to express yourself as your brothers and your sister

Without difficulty to pronounce the words

May our Almighty God accept

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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.

‍

Download Article

The Gastrointestinal Health and Beyond in Children with Rare Genetic Variations was a 2-hour long, patient-centered, collaborative event organized by the KAT6 Foundation. It was designed to fuel conversation about the gastrointestinal challenges faced by children with KAT6A and KAT6B gene variations and enable open dialogue between families, clinicians, and researchers. The webinar provided a platform for the KAT6 community to expand its network and build connections with new researchers and experts working on tackling GI and GI related issues. More than 90 individuals registered for this event. On the day of the webinar, 20 families and 35 scientists attended the event. With some international representation, the majority of the families and researchers were based in the USA.

Dr. Tanya Tripathi, research coordinator of the KAT6 Foundation moderated three scientific presentations by renowned scientists – Dr. Sarkis Mazmanian, Dr. Gustavo Mostoslavsky and Dr. Richard I Kelley. Please read the summary of the presentations here.

On March 24, 2022, The KAT6A Foundation hosted the second KAT6A and KAT6B Virtual Symposium.  The event was designed to solidify the KAT6A and KAT6B research network of clinicians and researchers through identification of research gaps, opportunities and collaborations. The symposium series aims to drive patient- centered and collaborative research to improve outcomes for individuals with KAT6A and KAT6B syndromes. The symposium series also aims to spark new collaborations among the KAT6A and KAT6B research groups and healthcare communities.The first KAT6A and KAT6B symposium, conducted in 2021, discussed a range of neurodevelopmental challenges faced by children with KAT6A and KAT6B gene variations. The second symposium expanded on the stakeholder representation to include parents of children with KAT6A and KAT6B gene variations along with health care professionals, clinicians, and researchers. This symposium focused on understanding the impact of KAT6A and KAT6B gene variations on speech and language development, a domain that is most commonly affected in this population of children.10 speakers and nearly 60 members of the KAT6 community attended the the symposium. The symposium ran for three hours and was organized in two sessions: the first session provided an overview of the KAT6A Foundation’s goal to empower patient-centered research and initiatives led by the Foundation to support research. The second session focused on understanding the pathophysiology of KAT6A and KAT6B related speech and language disorders.

Please read the symposium recap pdf for a complete summary of each presentation. The next virtual symposium is tentatively scheduled in September 2022. This symposium will focus on unraveling the range of gastrointestinal difficulties faced by individuals diagnosed with KAT6A and KAT6B syndromes.