I live in New York, USA. My son, Peter, was diagnosed with severe autism and global developmental delay at the age of 18 months. We didn’t have a KAT6A diagnosis till the age of 8 years old. After many online research, after talking with multiple geneticists around the country and talking to other families with the same diagnosis, I started giving Peter the mitochondrial cocktail following Dr Richard Kelley recommendations.

Here’s my experience with the mitochondrial cocktail:

– At 4 weeks after the start of the cocktail, Peter became potty-trained during the day without any training. He pulled his pull up off, refused to put it back on.

-At 2 months, Peter started riding his bike with no training wheels and playing soccer. He became able to kick the ball and run after it till he scores.

-At 2.5 months, he started skiing independently. I used to try to teach how to ski since he was 3yo. I used to spend hours and hours picking him up off the snow with no result. I tried different kind of reinforcers (food,..) with no result. After the cocktail, he just went down the hill by himself, He can ski independently now and knows how to make turns.

-At 2-3 months, I started noticing an increased strength in playing ice hockey and street hockey with a better understanding of the game. His typing ability improved too, he used to have severe apraxia while typing (type the letter next to the letter he wants to type…).

-At 3-4 months, Peter’s fingers on the piano became stronger, he became able to play harder songs with less training and less frustration. I also noticed an increase in “common sense” like for example putting his backpack in the car instead of throwing it on the floor next to the car and riding the car without his backpack. Another example, when we go to the public library, he knows by himself that he has to go to the children section, and walks independently without showing him directions to the play area inside the children section. In the past, he used to grab books the time he enters the library, throw a tantrum on the floor. The most important milestone is that Peter started to say few words that I can understand.

-At 11 months, Peter became potty-trained at night. His speech is slowly getting clearer. His fine and gross motor skills are still getting better.

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Jack was born at full term in February 2016. As soon as Jack came into the world, he decided to give his parents a run for their money. He was born with Sagittal Synostosis, a heart murmur, Laryngomalacia, and undescended testicles. In the first year of Jack’s life he had 3 surgeries: a Cranial Vault Reconstruction to fix the Synostosis, a Supraglottoplasty to help with the Laryngomalacia, and a double Orchiopexy, which also resulted in a hernia repair. At that time, we also had a gastronomy tube placed because Jack had stopped eating by mouth around 6 months and was losing weight. Throughout all of this, Jack was a trooper. He was strong and happy and was often found smiling in post-op… the nurses and doctors easily fell in love.

Jack began receiving PT, OT, and Speech Therapy services through Birth to Three at 4 months old. Now 21 months, he continues to receive these services in addition to a private Speech Therapist, who focuses on feeding therapy since Jack is still primarily fed through a g-tube, and an Aquatic Physical Therapist. We are hoping that within the next year and a half Jack will be able to eat solely by mouth and we can remove the g-tube. Jack attends a special needs program for children under the age of 3. He goes 2 days a week for 3 hours a day. He has a one-to-one aide, and it’s the best thing we could have found for him. He’s challenged and content, and we’ve seen major muscular and cognitive developments since he started in September 2017.

Last winter Jack spent more than 23 days in Yale’s PICU for Rhinovirus and Parainfluenza. The first time we brought him to the ER was the most traumatic. He had been sick for a few days after Thanksgiving. We found him in his crib one morning grey and struggling to breathe. He was intubated upon arrival at the hospital and remained so for 9 days. Although Rhinovirus is a common virus for children to contract, Jack struggled overcoming the illness because of his abnormal airway obstruction, which is simply a part of his anatomy. The next 2 hospital stays were for the same reason. Although the doctors discussed putting in a trach to avoid future dangerously low oxygen levels, we decided to hold off to see whether or not Jack can overcome this on his own as he grows bigger and stronger.

In addition to being followed by 12 specialists, Jack works with Dr. Richard Kelley, an expert in metabolic diseases and biochemistry, and Vicki Kobliner, a nutritionist. Dr. Kelley created a mitochondrial ‘cocktail’ for Jack based off of his metabolic abnormalities, and we’ve seen great improvements in Jack’s development since he began taking it. Vicki helped create a blenderized diet for Jack, so he eats a well balanced nutritious meal 3 times a day, all through his g-tube. He probably eats a healthier diet than most people I know!

It has definitely been a journey thus far with our little man. He brings us so much happiness everyday despite all that we’ve been through with him. Watching Jack hit milestones brings tears of joy to our eyes. His most recent accomplishment is sitting up by himself! We can only hope that he’ll continue to develop and thrive, and we can’t wait to see what he achieves next!

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Life for us living with this has been a challenge some days. Izzy was a preemie of 2lbs 10 oz. She was in the NICU for 5 weeks. She is not our biological daughter but came to live with us 2 weeks post NICU. From the start she vomited most of her feedings. She grew very slowly at first and at 5 months old was hospitalized with pneumonia from aspirating her spit up. They did a swallow study and diagnosed her with GERD. We then started feeding her 1-2 oz of severely thickened formula every 2 hours….slowly increasing until we were at 3-4. She never ate more than 4oz until she was over 2. Needless to say, I was exhausted!

As she has aged, we experienced slightly delayed walking and talking. She had a tough time potty training but by 4.5…she had it down for the most part. Today she is 6.5 and in kindergarten. We are seeing learning delays by about 2 yrs but she is so happy and brightens any room! We are finishing testing with neuropsych and occupational therapy and will have an appointment with the school for an IEP soon.

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Ma plus belle histoire d’amour. ..

Ma plus grande bataille…

Mon étoile de l espoir…

Mon trèfle à quatre feuilles, unique, extraordinaire…

Toi!!!

Ma guerrière Chloé

-Poème de Carine (la mère de Chloé)

English Translation:

My most beautiful love story. ..

My biggest battle …

My star of hope …

My four leaf clover, unique, extraordinary …

You!!!

My warrior Chloe

-Poem by Carine (Chloe’s mother)

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Bonjour voilà nous avons eu le diagnostic du KAT6A le 13 septembre dernier notre petite Lysie âgé de 3 ans. Ce qui engendre des retard psychomoteur intellectuelle et des acquisitions elle est hypotonique . Je vais essayer de vous expliquer au mieux le parcours de notre princesse. Dès la naissance Lysie ne s’alimenter pour bcp à la maternité il nous disais que c’était normal qu’elle avais avaler du liquide amniotique. Lui donner le biberon était un combats Lysie pleurer beaucoup on avais l’impression qu’elle souffrait o était impuissant.

Même les geste du quotidien était difficile la promener en poussette ou en voiture était un calvaire que des pleure même les courses impossible jusqu’à à peut près 1 Mois sa va mieux Lysie commence et être un peut plus poser. Au niveau repas la a etait le gros problème Lysie vommisser énormément elle manger pas de morceau il a fallu tout broyer dans son lait à l’aide d’un robot puissant le Thermomix ce qu’il lui a permis de commencer à prendre un peut de poid il y avait plus aucun morceau . En janvier dernier j’ai réduit fortement mon activité professionnelle pour m’occuper de Lysie je n’est pas lâcher prise j’ai insister surtout sur le repas à je vous dis pas Lysie a énormément vomi mais nous avons eu une victoire Lysie mange normalement de tout et de régale c’est un plaisir de la voir manger .

Sur le développement Lysie a marcher tard à 20 mois la piscine la beaucoup aider elle a tenu assise à 10 mois à peut près. Actuellement Lysie ne joue pas vraiment avec ces jouet elle jette plutôt impossible de la tenir sur une activité plus de 10 min nous travaillons sur cela a l’aide d’une éducatrice spécialisée elle est tjr frustrer et a peur de tout. Elle met encore tout à la bouche et croque dans tout à en avoir des morceau en bouche . Elle a des problèmes ophtalmologique on a rdv prochainement ,une malformation aux oreilles petites oreilles donc très petit conduit. Lysie marche mais tombe facilement et se fatigue vite. Elle a une malformation au cœur également . Pour notre part elle n’est pas constipée elle a un rythme régulier une a deux fois par jour à la selle .

Voilà j’espère avoir pu vous faire partager la vie de lysie vraiment pas facile pour moi d’expliquer.

bonne réception amicalement

Séverine

English Translation:

Hello,
Here we have received the diagnostic of KAT6A last September 13 for our little Lysie 3 years old. This generates intellectual psychomotor delay and acquisitions. She is hypotonic. I will try to explain the best course of our Princess. From birth she did not nurse well. They said it was normal since she had swallowed amniotic fluid. The bottle was a fight. Lysie cried a lot. We had the impression that she was suffering or was helpless.

Even the gesture of daily life was difficult. To walk her in a stroller or car was an ordeal. Her crying made it impossible until close to 1 month where she seemed better. Mealtime was a big problem. She vomited a lot and everything had to be ground into her milk using a powerful robot Thermomix which allowed her to start gaining a bit of weight. In January I strongly reduced my professional activity to take care of Lysie. I did not let go. I continued to insist particularly on the meal. I tell you that Lysie threw up a lot but we had a victory. Lysie now eats normally of anything. It is a pleasure to see her eat.

Developmentally Lysie walked at 20 months. The pool was a big help. She sat up at about 10 months.
Currently Lysie does not really play with her toys. She just throws them. Impossible to keep her interested in an activity longer than 10 minutes. We are working on this with the help of an education specialist. She is frustrated and scared of everything. She still puts everything in her mouth and bites everything to have a piece in her mouth. She has problems with her eyes. We have an appointment soon. She also has a malformation to her small ears so she has very small ducts. Lysie walks but falls easily and gets tired fast. She also has a heart defect. For our part, she is not constipated. She has a steady pace of one to two times a day in the bathroom.

Here, I hope to have been able to share the life of Lysie. Really not easy for me to explain.
Your friend,
Severine

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Here is some of Kristen’s story….diagnosed with KAT6A at age 28, she is 29 1/2 now.  She is a beautiful young woman who has endured more medical challenges than anyone I have ever known.  She is a twin (fraternal), was a preemie, and born hypotonic on the short end of placental discordance.  We never stopped searching for answers as to why she struggled so much and her twin sister never did.

One particularly difficult area of development for Kristen was her speech and language. Kristen did not make any sounds as a baby, deafness was ruled out, speech therapy started at 11 months.  A larenoscopy showed vocal cords were weak and inconsistently responded to sound stimulus.  Oral motor therapy shortly followed. Teaching Kristen to use her tongue and try different food textures (eating had been a struggle since birth.  At birth she lacked the oral motor strength to suck a bottle) was important in helping her develop more oral motor strength needed for speech.  A special pre school with daily OT, PT, and speech therapy was next at age 2.5. Diagnosed then with apraxia of speech.  We taught her sign language to communicate while never giving up on speech.  Kristen entered kindergarten (a special day class for language impaired children)with two words, neither was her name.  Daily speech therapy at school and we continued private therapy twice a week.  The progress was slow, but progress was there.  Kristen eventually learned more words, mumbles at first, articulation poor. Over the years it continued to improve, albeit it very slow.  By the time Kristen left elementary school she spoke short sentences, not necessarily grammatically correct but she was able to communicate verbally her needs and wants (with a little patience getting those thoughts out).  That continued to improve, and private therapy continued, and continues to this day.  Articulation became somewhat clearer, word finding is still an issue, but for the most part Kristen can communicate to even strangers and have them understand her. Will her speech and language ever be normal, no, but her growth still continues to this day at age 29, as does her therapy and her will to communicate with those around her.

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Parents and caregivers of children or adults with KAT6 disorders are the first to recognize whether the person they care for is in distress.  Those continually looking after the person’s needs are the best ones to intervene and advocate for medical care when it appears that a problem is present and getting worse.  But what are we looking for and when might it call for emergency care?

INTESTINAL BLOCKAGE

Gastrointestinal issues are common with KAT6 disorders.  Low muscle tone throughout the body may mean low motility in the gut — weak contraction of the muscles that mix and propel contents in the gastrointestinal tract.  When there is a temporary lack of normal muscle contractions of the intestines this is known as ileus — not a blockage, but a stoppage.  (Think of a blockage as a train wreck, preventing any other train from passing through, and think of a stoppage as merely a train sitting on the tracks and failing to move along.)

When the contents of the upper or lower bowel cease to move, the resulting mass can become enlarged and can harden as it dries out, stretching the part of the intestine where the mass occurs.  Regular contractions can return and eventually move it along, but if the contents sit too long they can begin to ferment and decay, with potentially serious results.  Vomiting and diarrhea, for example, are normal consequences once the body applies its other resources to the obstruction.

If it does not eventually start moving on its own it may respond to non-invasive treatments such as stimulants taken orally or a rectal enema, depending on proper assessment of the location of the problem.  But if there is a physical barrier to continued movement of intestinal contents, the problem can quickly become life-threatening.

MALROTATION AND VOLVULUS

Around the tenth week of gestation, as the intestinal tract is developing, it normally moves from the base of the umbilical cord into the abdominal cavity.  As the intestine descends into the abdomen, it makes two rotations and settles into its normal position.  When a portion of the intestine, or even the entire intestinal tract, fails to lie properly in this space, it ls known as a malrotation.

A malrotation may cause immediate symptoms and problems after a baby is born or may lead only to intermittent trouble, or it may cause no problems at all.  In some people it is not discovered until well into adulthood or perhaps never discovered at all.  In others, it can be the source of repeated obstructions.  The point is, a malrotation is an anatomical defect and one that must be suspected if problems arise, especially in early childhood.  It can lead either to continuous or intermittent problems but is not necessarily dangerous.

When a loop of intestine and the membrane that holds it in place twist around each other like sausage links or a kinked garden hose, this causes a bowel obstruction called a volvulus.  A certain kind of volvulus in a horse is commonly called a torsion.  It is not going to clear and open back up on its own, and normal muscle contractions in the gut are not going to force a trapped mass of intestinal contents to move past it.

The trapped material, already partially digested, continues to break down, though, and some contents may be ejected as diarrhea or gas, while most of it will remain and swell the gut.  A person suffering a volvulus, who enters emergency surgery soon enough, may still lose part of the intestinal tract in surgery.  Without emergency surgery a volvulus is almost certain to be fatal.

If a volvulus is suspected in an emergency room, a buildup of gas in the intestine may show up on a series of x-rays, which must be taken at intervals long enough for changes to appear but no so long that surgery comes too late.

OTHER GI ISSUES

The esophageal sphincter is the valve between the esophagus and the stomach.  When the muscle that keeps this valve closed is weak, a blast of burning stomach acid may rise as far as the throat.  This is acid reflux.  A baby with KAT6A or KAT6B can be resting quietly in a baby seat, alert and cheerful, and suddenly scream in pain and terror.  If this happens with any frequency, reflux should be suspected when nothing else is likely.

Dumping syndrome is a group of symptoms, such as diarrhea, nausea, and feeling light-headed or tired after a meal, that are caused by rapid gastric emptying, a condition in which food moves too quickly from the stomach to the duodenum.  This can become an issue after a person has undergone GI surgery.  Adjustments in diet or medicine can resolve things, and, if surgery was involved, time may be the best healer.

OUR NEED TO REMAIN VIGILANT

Communication problems are common with the KAT6 population as well as an apparent high tolerance for pain.  Children and adults with KAT6 disorders, especially those who can’t tell us that something hurts or where it hurts, need to be monitored continually for lack of gut movement.  Constipation, (a general term for any disruption of intestinal activity that leads to pain and irregularity of bowel movements), can make a normally cheerful person irritable.

A volvulus is a rare occurrence in the general population, but among the KAT6 population it seems common enough to be of serious concern.  Although we are still studying the matter and don’t have statistics, it appears that untreated bowel obstructions are the leading cause of death among children affected by KAT6 disorders.

Many of those with KAT6 disorders are tube-fed through a gastrostomy.  For some, this is their only source of nutrition, and so variations in gastrointestinal activity are less likely to be caused by daily changes in diet.

What is the person’s normal frequency of bowel movements?  Has it been a day longer than normal?  Two days?  Is she also becoming irritable, combative, unable to sleep?  Does this happen in repeating cycles?  What does her blood work show?  What does a gastroenterologist say?  Do cycles of irritability correlate with cycles of unusual toilet contents?  Someone close to the patient needs to be asking these questions and insisting on answers.

People with KAT6 disorders may show no signs of a bowel obstruction until it has progressed to a serious degree.  They may quietly tolerate the increasing pain until it has become severe.  An obstruction can go from bad to dangerous quickly.  It is hard to differentiate an obstruction from other gastro-intestinal issues.  Obstructions can happen again and again and can strike at any age.

While it is probably more likely to become an issue early in a child’s life, an affected person who has a KAT6 disorder can seem to be OK for years, perhaps irritable at times for no apparent reason.  Just because it hasn’t been diagnosed at an early age it could be that a complete obstruction simply hasn’t happened yet.  The best prevention of complications is be on top of it all of the time.  Not all doctors understand that, with a bowel blockage, you can still pass diarrhea — the assumption seems to be that if they’re passing anything at all then there’s no obstruction.

Medical services vary from country to country, and while another country may have excellent hospitals and perfectly competent doctors, they may also have different approaches to parent involvement, different protocols for intervention, and different standards for what can and should be treated.

Compounding the danger, a doctor may not consider an intestinal obstruction if a parent or caregiver hasn’t suggested it, and so a doctor wants to ascribe a change in behavior to anxiety, a virus, a food allergy, and so on.  Meanwhile the child has mere hours to get the problem resolved or else irreversible damage has been done with a high potential for fatal results.

LIVING WITH IT

We aren’t supposed to tell people about our poop or ask others about theirs.  With KAT6 in a family we could save a life if we get beyond that taboo.  In our own experience, Beth and I share in all phases of the care of our son, Sam, who is now 32 years old.  He is one of the more severely disabled individuals with KAT6A syndrome, and so we must pay constant attention to all the signs he gives us.  We “read” his behavior, we both examine his bowel movements daily or at least describe to each other what he has done.  (He even has an “I POOPED TODAY” T-shirt.)

Sam has had a gastrostomy and feeding tube since he was a baby and receives all medicine and sustenance through the tube.  He had a nissen fundoplication during his first surgery as a baby, so he cannot burp or vomit.  He had a malrotation of the duodenum at birth (corrected by surgery), reflux as a baby, a volvulus before he was two (indicated by changes in a gas pocket on successive x-rays), a second near-fatal obstruction due to adhesions, and numerous instances of ileus and other partial obstructions requiring hospital stays.  As an adult he is now treated for ulcerative colitis.  He does not walk and can’t speak.  But he is engaging and even mischievous, affectionate, enthusiastic, and popular.  When he hurts, his only ways to show it are in withdrawal, resistance, and restlessness.

We are fortunate that Sam has had doctors who care about him as a person and who listen to us, his parents.  His doctors, though, need to trust what we are telling them, and so our information must be reliable.  By educating ourselves, paying close attention to the signs that Sam gives us, and making sure we communicate consistently and accurately with medical providers, we have been Sam’s best advocates.

Many parents have observed GI benefits from a mitochondrial cocktail and other supplements, such as Cytra-3. Learn more about these supplements by watching Dr. Richard Kelley’s presentation from our 2022 Conference. It is essential to consult your child’s physician before starting anything new.

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Dear KAT6 Families, Friends, and Partners,

We are writing to share an important update about the KAT6 Foundation’s leadership.

The Board of Directors would like to share an important recent change to our organization. After eight years of incredible service to our community, Natacha Esber and Emile Najm, the founders of the KAT6 Foundation, have made the decision to step down from their positions as Chair of the Science Committee and CEO, respectively. We extend tremendous gratitude to them as the creators of our foundation, and as tireless advocates for our mission to advance scientific research and to support our families. There is no part of this organization that has not been touched by their incredible passion, vision and drive. Natacha has advanced scientific research and provided countless hours of medical advice to numerous families. Emile has run the legal and financial aspects of our foundation, as well as overseeing all of our committees. Together they created our conferences and enthusiastically welcomed new families into our fold.

We are beyond grateful to them for founding this organization and for the many years of dedication, vision, and relentless work they have poured into building a brighter future for individuals living with KAT6A and KAT6B. Their leadership helped create the strong foundation we stand on today, and because of their efforts, our community, our research network, and our global visibility have grown in extraordinary ways.

They will always be a cherished part of our community, and we hope you will join us in thanking them for their years of service and lasting impact.

Our Board of Directors is fully engaged and will be stepping in collectively to ensure uninterrupted operations during this transition. In the meantime, Jordan Muller will be serving as Interim Executive Director, providing operational leadership, coordination, and continuity.

Our Science Committee members will continue their work without interruption, and all funded research projects and partnerships remain active. There will be no delays or changes to ongoing scientific or community initiatives.

The heart of the KAT6 Foundation has always been our community and the many dedicated parents, caregivers, clinicians, and volunteers who bring this work to life. That remains absolutely unchanged.

As the Foundation evolves, we will post several new roles in the coming weeks. If you or someone you know would like to join our mission, we would love to hear from you. Our team is mostly made up of parents and caregivers, but not entirely, and we welcome anyone with a passion for helping this community thrive. Please keep an eye out for position announcements soon.

We are also thrilled to share that planning is underway for our first ever KAT6 Family Weekend in 2026. This is a milestone event many of our families have dreamed of. We cannot wait to bring our community together in person for connection, learning, joy, and support. The date and location will be announced in January 2026, and we look forward to seeing you all there.

We are confident that this next chapter will bring continued growth, clarity, and opportunity for our community. Our mission remains unwavering: to advance research, strengthen family support, and build a connected global community for every individual living with KAT6A and KAT6B.

With deep gratitude for Emile and Natacha’s incredible service, and with excitement for the road ahead, we thank you for your trust, your compassion, and your partnership.

With appreciation,
The Board of Directors
KAT6 Foundation

For more information: Q and A

When Kristin Ross O’Brien’s son Max wanted to write a school report about his younger brother’s rare genetic condition, she made a surprising discovery; there were no children’s books about KAT6.That moment sparked a dream: to create the story that didn’t yet exist.Together with her friend and child life specialist, Dr. Lindsey Murphy, Kristin brought that dream to life in KAT6 and Me; a beautifully written and illustrated book that teaches, comforts, and celebrates children living with KAT6 disorders, while helping others understand and include them.“The idea for KAT6 and Me began with Max,” Kristin recalls. “He wanted to write about KAT6, but there weren’t any books, not even for adults. From that moment, it became our family’s wish to one day write the children’s book that didn’t exist; a story that could teach, comfort, and celebrate kids like Bash, and help others understand them too.”

A Collaboration Built on Friendship and Shared Purpose

Kristin shared her idea with longtime friend Dr. Lindsey Murphy, an associate professor of child life at Missouri State University. The connection between the two was immediate.“I’ve been a witness to Bash’s journey from the beginning,” Lindsey says. “Knowing there was something tangible I could do to support their efforts for education, inclusion, and advocacy was an easy ‘yes.’”The writing process flowed naturally.“We’d already been friends for years, connected through a playgroup for our kids,” Lindsey explains. “Kristin brought the heart and soul. She knows her child and the KAT6 community better than anyone. My background as a child life specialist helped us make complex or emotional topics understandable for children. Together, we blended those strengths.”Kristin agrees that the process was both heartfelt and fulfilling.“We wrote this book in the fringes of our lives- over coffee while our kids happily destroyed the playroom,” she laughs. “We talked about how to highlight Bash’s abilities instead of just his challenges, and how to weave facts into storytelling that still felt magical.”

The Heart of the Story: Bash

At the center of KAT6 and Me is Bash, Kristin’s youngest son, whose journey has inspired many.“Bash came into our lives first as our foster son when he was six months old and instantly captured our hearts,” Kristin shares. “Before he turned two, we were blessed to officially adopt him and make him a forever part of our family.”Diagnosed with KAT6B syndrome as an infant, Bash’s life has been filled with both challenges and incredible joy. Despite facing multiple therapies, surgeries, and medical complexities, his optimism and determination shine through.“Every small victory, every sound, and every step for Bash is a celebration,” Kristin says. “He’s a kindergartener, a disability advocate, and even a playground philanthropist. . . helping bring adaptive playground equipment to our small town. His happy personality touches everyone he meets.”

A Bridge for Families, Educators, and Professionals

Both authors hope KAT6 and Me will serve as more than a story. They see it as a bridge for connection and understanding.“For families, I hope this book gives language they can use to explain a diagnosis in a positive, age-appropriate way,” Lindsey says. “For professionals, I hope it reminds them that small gestures, listening, explaining clearly, offering hope — make a lasting impact.”Kristin adds,“My greatest hope is that KAT6 and Me becomes a bridge. I want families who are newly diagnosed to feel less alone. I want siblings to have words that help them explain and celebrate their brothers and sisters. I want teachers and classmates to see what inclusion looks like- to recognize that kids with complex needs have the same love of laughter, friendship, and play as any other child.”

A Ripple of Awareness

Since its release, KAT6 and Me has reached far beyond the rare disease community.“We expected families affected by KAT6 to be our main audience,” Lindsey notes, “but teachers, advocates, and libraries across the world have embraced it as a tool for inclusion and awareness.”Kristin and her family have shared the book through local events and readings in Boonville, Missouri, and have donated copies to schools, hospitals, and libraries.“Parents of children with rare diagnoses have sent us pictures of their kids holding the book,” Kristin says. “Teachers have told us they’re using it to start conversations in classrooms. And siblings, kids like my Jack, Max, and Leah, now have a way to explain and understand their brother’s condition. That’s exactly what we dreamed this book could do.”

Giving Back to the Community

To honor the children and families affected by KAT6 disorders, all royalties from KAT6 and Me are donated to the KAT6 Foundation to support research, awareness, and family connection.“Every purchase helps fund the search for answers and celebrates children like ours,” Kristin explains.Lindsey and Kristin’s collaboration continues, with plans for additional projects to serve families across the KAT6 community.“Our conversations keep sparking new ideas,” Lindsey says. “We already have plans for more books to reach other audiences within the KAT6 community.”

A Story That Connects and Inspires

What began as a school project has grown into a heartfelt movement of awareness and inclusion. Through KAT6 and Me, Lindsey Murphy and Kristin O’Brien remind readers that every story, no matter how small, has the power to connect, to teach, and to bring hope to families everywhere.“I learned that hope grows when it’s shared,” Kristin reflects. “Every message from another family, every photo of a child holding the book, reminds me that stories can connect people who might have otherwise felt alone.”About the AuthorsKristin Ross O’Brien is a writer, advocate, and mother of four living in Boonville, Missouri. Her family is passionate about inclusion and rare disease awareness.Dr. Lindsey Murphy is an Associate Professor of Child Life at Missouri State University and a dedicated advocate for children with complex medical needs.Read More about their journey in Q&A: Dr. Lindsey Murphy and Kristin Ross O'Brien

Purchase KAT6 and Me

"Wilder has done so well with the therapies she has received with the help of the Empowered Grant!" KAT6A and KAT6B syndromes are a pair of rare genetic variants that can cause a spectrum of health complications, impacting those diagnosed to varying degrees. As a foundation, we strive to spread awareness and advance research surrounding these syndromes. Part of this mission is fostering a strong community that supports individuals diagnosed and their families.

However, while essential and irreplaceable, support alone is not enough to address the wide range of complications many individuals face. Therapies and accessibility equipment—among other forms of treatment—allow individuals diagnosed with KAT6A and KAT6B to experience life more fully and with greater ease. Unfortunately, the more impactful the solution, the higher the cost—expenses that not everyone can afford.

Empowered Grants provide individuals diagnosed with KAT6A and KAT6B the funding needed to purchase assistive equipment, treatments, and technologies that may otherwise be out of reach.

Take Jack’s family, for example. While society has become increasingly accessible, there is still much work to be done—especially in historic areas where equipment like Jack’s wheelchair can be difficult to maneuver.

With help from the Empowered Grant, Jack’s family was able to purchase a portable ramp that has allowed them to take Jack into shops and restaurants with ease. Jack’s mother, Elyse, explains, “Purchasing and using the ramp in public has not only helped us, but helped many others, as the ramp has encouraged local business owners to purchase their own portable ramps for public use!”

Families have also used the grant to address more specialized needs. For example, David Exl explains that his daughter, Ella, was diagnosed with KAT6A, “which affects both her mental and physical development,” and “CVI (Cortical Visual Impairment), a visual processing disorder that makes it difficult for Ella to interpret visual stimuli.”

Using the Empowered Grant to fund Ella’s physical therapy, Exl shared that “a major milestone came in the fall of 2023 when she started crawling—it was the first time she could move around on her own.”

In addition to medical treatments, meaningful social connections have proven instrumental in the lives of KAT6 families. The Empowered Grant also supports these connections by helping families—like Siahna Anderson’s—fund special programs such as summer camps.

According to Shannon Anderson, Siahna’s mother, at “Adams Camp—a camp designed specifically for kids with special needs—” Siahna “gets to experience camp activities such as swimming, canoeing, horseback riding, summer tubing, shopping, and overnights with friends.” She also receives therapies such as speech, music, occupational therapy, physical therapy, and art therapy.

These programs offer individuals with KAT6 a sense of belonging and normalcy that may be difficult to experience otherwise. Living with any condition can be scary and isolating, but the opportunities made possible by the Empowered Grant can ease that burden through new experiences and meaningful connections.

Backed by our generous donors, we have awarded more than 120 Empowered Grants to KAT6 families around the world. Whether for medical equipment or specialized therapies, this funding provides individuals access to essential resources tailored to their unique needs. The KAT6 Foundation remains deeply committed to supporting our community through Empowered Grants—and the life-changing opportunities they make possible.

Learn more about how to apply for an Empowered Grant to support your child here. 

We're excited to announce that we've been selected as a 2024 #RAREis Global Advocate Grant recipient by the #RAREis program from Amgen! In total Amgen awarded 75 one-time $5,000 grants to global rare disease advocacy organizations to support programs and disease education initiatives. 

We’re motivated to continue making a positive impact for the rare disease community by expanding our efforts in KAT6 education and advocacy as we work to address the needs of all those impacted. 

Learn more about the #RAREisGrant here: https://www.rareiscommunity.com/rareis-global-advocate-grant/

#RAREis^TM began as a social media campaign launched by Horizon Therapeutics, now Amgen, in 2017 to elevate the voices, faces and experiences of the rare disease community. It has since grown into a global program that provides individuals and families around the world with access to resources that connect, inform and educate as they navigate their daily lives. The hashtag (#), #RAREis, remains as a way to follow the conversation on social media and remains in the name and logo to represent the broader program and community. As part of their mission, they strive to improve the experience of living with a rare disease by providing support to many organizations that offer crucial programs and services for people living with rare diseases.

July 1, 2023

Working through ZebraKinder — our KAT6 counterpart in Austria, filmmaker Niko Mylonas has released the new production, “Genetic Defekt.” Coordinated by executive producer (USA) Emile Najm for the KAT6 Foundation and retaining its German title, the production is available in English narrated by our own Katie Bator as well as in its original German.

While the film does touch on the technical aspects of KAT6, it is, in essence, an opportunity to get acquainted with families at home and abroad who live with KAT6A and KAT6B. We of course want to educate ourselves on the ways in which the genetic defect expresses itself in its several variations, but the film centers around the daily lives of those affected.

We see in the film the spectrum from subtle, almost unnoticeable effect to severe impairment, depending on the type of gene anomaly — truncation, missense, deletion, and other variants. We meet Ella in Innsbruck and her advocate-aunt, Monika Rammal. We visit Gianna in Michigan, Samantha in Germany, Will in New York, Warren, Bay, Max, Hadley, and many more. We hear from some of the scientists and parent-advocates we’re familiar with including Dr. Jacqueline Harris, Dr. Angie Serrano, Aimee and Jeff Reitzen, Susan and George Hartung. We visit with the Najm family, who, on behalf of Peter, had the inspiration in 2017 to organize parents in starting a foundation for KAT6 support and research.

In addition to a glimpse into the everyday trials and sweet triumphs of those who live with KAT6, the film lets us spend a poignant few minutes with the parents of Helin, a girl in Germany who fell ill and, although brought to a hospital, did not survive. Her parents share the message to be learned from that tragedy.

While the film points out that the disease is yet rare, it is not new. Nor perhaps is it as rare as was previously thought. And that could be the film’s lasting contribution. Once you’ve seen it, show it to others, speak of it, send it, share it widely. Make it the centerpiece of a gathering or fund-raiser. And make clear that, whenever there is a question of a genetic irregularity in a child, testing is available. Our children deserve the care we can give, and we, as parents and caregivers, deserve the best information.

At 48 minutes in length, “Genetic Defekt” is a tool we have long needed to promote awareness of the adversity that has brought us together.

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Picture: Kuno Büsel (left) and Niko Mylonas (right)

We are pleased to announce that on September 28, 2023, the KAT6 Foundation was awarded the Austrian Child Welfare Award, the MYKI-Award 2023 for the film.

Picture: Executive Producer (Austria) Monika Rammal receiving the MYKI-Award on behalf of the KAT6 Foundation.

TO ALL KAT6 CAREGIVERS:

A PLEA FOR INFORMATION

The KAT6 Foundation has established a committee to study mortality within our community.  It is sobering to realize that there is a need for this.  While we are all here to surround and support those burdened with the loss of a loved one, the ultimate objectives for this committee are to guide parents in understanding how best to adjust to KAT6 disorders and to prevent suffering among our most vulnerable members.

As parents we are silently alert for signs that our child is in distress, which can arise due to sickness, physical trauma, or emotion.  We watch for the expected discomfort of common illnesses.

A child who is upset may simply be complaining out of selfishness or a violated sense of fairness, and what’s wrong can be easily fixed.  When we hear crying or whining, though, especially when children are immature and lack verbal skills, we pay attention to the other ways they communicate.

AN OVER-RIDING CONCERN

Our children with KAT6 disorders must endure the usual childhood ailments, but they (and we) may not suspect less-common possibilities that lurk in the background.  Heart conditions and bone frailty are two that have proved common, but one more affliction has been responsible for claiming the most lives among our affected population: bowel obstructions.  Over a three-year period we have lost as many as five members of our tiny group to this tragic cause.

Slow motility in the gut — weakness of the muscles that push the contents along — is a common KAT6 disorder.  Symptoms of a bowel obstruction are subtle at first and can be mistaken for something else.  Obstructions do not readily clear without intervention, and there is no easy test until the situation has become critical.

Many of our kids have a high tolerance for pain and, when in distress, may at first seem merely to be cranky or anti-social.  If their sleep patterns are already poor — and that is common — then we may not notice this one more thing contributing to their insomnia.

It is hard to imagine a child’s misery, unable to describe the pain, when we, the care givers who know our children, and the medical providers have not yet even suspected gut pain.  And it horrifies us to think that a child can die not understanding why we are failing to do something to ease the agony.

WHAT YOU CAN DO NOW

With the high proportion of deaths due to this one cause, the mortality committee urgently asks parents and caregivers to help.  With an eye to preventing the suffering of even one more bewildered and innocent member, the committee needs data, clear, reliable, factual information.

While we await autopsy reports, it is especially important that all KAT6 individuals be entered into the NORD Registry.  The more we know about the ways in which KAT6 disorders are manifested the better the Foundation can support meaningful research, support caregivers, and help assure the comfort and well-being of the ones who have brought us all together.

To create a registry entry for a person with KAT6A or KAT6B, please use the link: https://kat6a.iamrare.org/Account/Register

To update an existing registry entry, and ideally you would do so annually, please go to: https://kat6a.iamrare.org/Account/Login

WHAT HAPPENS TO THE DATA

De-identified data in the KAT6A/KAT6B Patient Registry is available to scientists — including medical professionals, geneticists, pharmacologists, nutritionists, and others — who want to study any aspect of KAT6A and KAT6B.  The KAT6 Foundation provides funding for many such research projects.

Members of the Foundation and the mortality committee are notified of the loss of a community member only through our support network, not by NORD or any other agent that is properly committed to privacy.  Our ability, as a committee of the Foundation, to obtain an autopsy report and other information depends on the willingness of those who are affected and have access to the report and the details of the family’s loss.

To contact a member of the mortality committee, please use the contact form at https://kat6.org/contact or add a post to the KAT6 Support Group page at Facebook: https://www.facebook.com/groups/803280496369674

Your information may help save a life!

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We are proud to report that research led by Dr. José A. Sánchez-Alcázar and his team was published by Genes on November 15, 2022 in an article titled Pantothenate and L-carnitine Supplementation Corrects Pathological Alterations in Cellular Models of KAT6A Syndrome. This is an important milestone for our Foundation as it is the first research project that we directly funded to reach publication, and is an important step forward on the path to finding a treatment for KAT6 individuals. Development of surrogate models simulating KAT6A gene variation is the first step towards understanding the pathophysiological alterations caused by this gene variation. By outlining pathophysiological pathways, treatment model(s) addressing alterations in these pathways can be developed for testing.

Three individuals with KAT6A gene variation participated in the study conducted at Universidad Pablo de Olavide in Spain. An initial series of experiments generated evidence supporting the use of patient-derived fibroblast to study KAT6A gene variation. The team identified four critical pathophysiological processes altered by KAT6A gene variation: 1) Coenzyme A (CoA) metabolism, 2) Iron metabolism, 3) Enzymatic antioxidant system and 4) Mitochondrial function. Two compounds were identified to have a positive impact on the altered physiological pathways. These compounds are: 1) Pantothenate and 2) L-carnitine. Pantothenate is a CoA metabolism activator and L-carnitine is a mitochondrial boosting agent. Supplementation with pantothenate and L-carnitine supported the survival of the KAT6A fibroblast in a stress inducing medium. The concentration of pantothenate and L-carnitine varied in all three KAT6A cell lines suggesting that different type of mutations respond differently to these positive compounds. The KAT6A gene plays a significant role in histone acetylation which is a key process involved in cell progression and differentiation. Supplementation with pantothenate and L-carnitine resulted in significant increase in histone acetylation, recovery of gene expression patterns and expression levels of proteins affected due to the KAT6A gene variation.

We want to extend our sincere thanks to Dr. José A. Sánchez-Alcázar and his entire team for their professionalism and commitment to rare disease research and the KAT6 community. We look forward to building upon this partnership in the future.

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Download Article

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

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

The Oxford dictionary defines insidious as: proceeding in a gradual, subtle way, but with harmful effects.  Most people associate this term with clever criminals.  Today I am writing this to ask you to think about it in another way.

Perhaps the greatest joy a person can experience is welcoming a child into the world.  So many dreams and visions for the future.  Ideally, those dreams come true.  But not always.  Sometimes things don’t go as planned.  The baby doesn’t learn to walk, to talk, to play with others. These things happen unfortunately, but no one is blamed. In our present day life we have learned how to address these issues – physical therapy, occupational therapy, play therapy, speech therapy are just a few of the remedies that are prescribed, and they usually help to some degree.

But what if the problem is “gradual, subtle, but harmful”?  What if the child can’t seem to gain weight, can’t seem to digest food properly?  In medical jargon this is called “Failure To Thrive”. But in this case, often, someone is blamed – the parents.

In the last decade genetic testing has revealed dozens of disorders not previously identified.  “With a combined prevalence of ~17% among 3- to 17-year-old children in the United States, neurodevelopmental disabilities are the most prevalent chronic medical conditions encountered in primary care” (Savatt, Myers Genetic Testing in Neurodevelopmental Disorders).  One of these is a disorder called KAT6A.  It is a  rare condition that can have devastating effects, including feeding difficulties.   As affected infants age, they may experience difficulties feeding because of problems with the movements of the muscles of the face (oromotor dysfunction), swallowing (dysphagia), and there can be a risk of food, liquid or other foreign material accidentally going into the lungs (aspiration). Infants can have additional symptoms involving the gastrointestinal tract including backflow of the contents of the stomach into the esophagus (gastroesophageal reflux), constipation, and abnormally twisting or rotation of the intestines (intestinal malrotation), which can cause pain and bowel obstruction (Esber, KAT6A Syndrome).  All of this means the child does not gain weight as expected.  But, because this is a rare, newly discovered disorder, the medical community is often unaware that this is a symptom of a syndrome, not a result of parental neglect.  Too many parents in these circumstances have been blamed, and even threatened, by professionals who thought they were doing their job.  Here are a few of  their stories….

We had a failure to thrive diagnosis from the day she was born. She was born hypotonic and with almost no sucking ability (she was also 7 weeks early).   Her twin sister developed normally and that should have been a HUGE clue something was wrong with her.  We actually did get reported to CPS and had to work six months with a social worker when she was 8 years old to prove it wasn’t what I was doing, but my daughter’s inability to eat and gain weight. We were easily dismissed after six months but the emotional damage done to me was almost irreparable. We did not get our diagnosis till our child was 29 years old.  I have played conversations over in my head so many times over the years…

I went through the same thing – my son was dx’d “failure to thrive” at 6 weeks and I was told I wasn’t feeding him enough and the healthiest organic formula I gave him must not be nourishing enough.  I researched myself and found he had a TONGUE TIE.  I took him to a new pediatrician and she said it was the most severe case she had seen and clipped it right there…

We had a similar issue with our daughter and the dietician accused us of not feeding her enough calories even though we were following the plan she provided for her.  She said it wasn’t enough at the following appointment when I read back what we were giving her….which was still the plan she provided…

In October 2020, my son was approximately 1 year and 4 months old.  I took my son to get checked out for genetics because he was delayed and showing symptoms of retardation. I explained that we had chosen to make my son’s own food.  Specialists came to our house and questioned every step on how we made the foods and sent us to a dietitian once a month.  The dietitian did not see anything we did was out of the ordinary.  My son continued to not gain weight and I found myself force feeding him to try and put weight on him, as the doctor said she would report us to the Department of Family Services if he did not gain weight and size.  An investigator from DFS came to our house.  Finally, in February of 2022 genetic testing revealed my son had KAT6A, which explained so much of the issues we were experiencing.Eventually the director of this hospital called to apologize about what had been done to us and let us know that this doctor was no longer working there…  

Our family was investigated.  However, when our child had to be hospitalized, and the hospital staff fed our daughter, it became clear this was not a problem of neglect…

In our world today with medical discoveries being made every day, it is impossible for anyone to keep up.  But, exactly for this reason, it is so important for those that are responsible for the welfare of our children, to not make assumptions that can have devastating effects.  The KAT6 Foundation is dedicated to research and raising awareness of KAT6 syndromes and we hope this article will take one step forward in that direction.  These links provide more information about KAT6A  and KAT6B. Even if your child is thriving, please share this article with your doctors, as it may help avoid the heartache the parents have experienced.

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Biomarker discovery in KAT6A for translation into clinical trials

For KAT6A syndrome and other neurodevelopmental disorders, researchers are starting to understand the dysregulated cellular processes affecting neurons and their supporting cells. The Chromatin Disorders Research Team at Murdoch Children’s Research Institute is currently using a mouse model, alongside human cortical neurons to study gene expression and metabolomics KAT6A syndrome, in collaboration with Professor Anne Voss at the Walter and Eliza Hall Institute of Medical Research. This work is being led by PhD student Dr Sarah Donoghue and supervised by Professor David Amor and Professor Paul Lockhart. The goal of this project is to understand the differences in brain development that occur in KAT6A syndrome, and to identify biomarkers that may show response to treatment in clinical trials.  

The team is looking to extend their work on blood biomarkers in KAT6A mice to children and adults with KAT6A syndrome. In this project, they will measure a range of molecular compounds in blood samples from human participants with KAT6A syndrome, using untargeted metabolomic and proteomic analyses. They will compare the plasma profile of 50 KAT6A syndrome participants to the plasma samples of 20 participants without KAT6A syndrome. The aim is to identify biomarkers that are detectable in the plasma of participants with KAT6A syndrome, with the hope that these can be translated for use in clinical trials, as an objective measure of treatment efficacy as the community proceeds to clinical trials.

For more information about this research, please contact Sarah Donoghue at sarah.donoghue@mcri.edu.au.

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ATTENTION RESEARCHERS:

The KAT6 Foundation is addressing a critical research priority raised by families—gastrointestinal challenges faced by children with KAT6A and KAT6B. This population experiences a concerning increase in mortality due to poor GI motility and perforation. Tragically, we recently lost another child to GI perforation, which has heightened anxiety and urgency within the community.

We are keen to better understand the factors that contribute to susceptibility to poor motility, bowel obstruction, and the risk of perforation in children with KAT6A and KAT6B. Equally important is identifying effective treatment strategies to address these serious issues.If you are interested in collaborating on this important challenge, please email the KAT6 Foundation at support@kat6a.org.

Learn more about Bowel Obstructions in the KAT6 Population.

We are proud to report that research led by Dr. José A. Sánchez-Alcázar and his team was published by Genes on November 15, 2022 in an article titled Pantothenate and L-carnitine Supplementation Corrects Pathological Alterations in Cellular Models of KAT6A Syndrome. This is an important milestone for our Foundation as it is the first research project that we directly funded to reach publication, and is an important step forward on the path to finding a treatment for KAT6 individuals. Development of surrogate models simulating KAT6A gene variation is the first step towards understanding the pathophysiological alterations caused by this gene variation. By outlining pathophysiological pathways, treatment model(s) addressing alterations in these pathways can be developed for testing.

Three individuals with KAT6A gene variation participated in the study conducted at Universidad Pablo de Olavide in Spain. An initial series of experiments generated evidence supporting the use of patient-derived fibroblast to study KAT6A gene variation. The team identified four critical pathophysiological processes altered by KAT6A gene variation: 1) Coenzyme A (CoA) metabolism, 2) Iron metabolism, 3) Enzymatic antioxidant system and 4) Mitochondrial function. Two compounds were identified to have a positive impact on the altered physiological pathways. These compounds are: 1) Pantothenate and 2) L-carnitine. Pantothenate is a CoA metabolism activator and L-carnitine is a mitochondrial boosting agent. Supplementation with pantothenate and L-carnitine supported the survival of the KAT6A fibroblast in a stress inducing medium. The concentration of pantothenate and L-carnitine varied in all three KAT6A cell lines suggesting that different type of mutations respond differently to these positive compounds. The KAT6A gene plays a significant role in histone acetylation which is a key process involved in cell progression and differentiation. Supplementation with pantothenate and L-carnitine resulted in significant increase in histone acetylation, recovery of gene expression patterns and expression levels of proteins affected due to the KAT6A gene variation.

We want to extend our sincere thanks to Dr. José A. Sánchez-Alcázar and his entire team for their professionalism and commitment to rare disease research and the KAT6 community. We look forward to building upon this partnership in the future.

‍

Download Article

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

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

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

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