My brother Peter has kat6a and he is very smart. He can’t talk. He likes to go to Six Flags and Hershey Park. He loves to go on roller coasters with me. One time he went on a very scary roller coaster but I couldn’t go on it because I wasn’t tall enough. He likes to ride his bike, play golf, tube, ski, play in the snow, drive the bumper cars with me, jump on bouncy houses, go to the beach, go to the pool, to eat food and build snowmen. He likes to eat a lot of food. My parents are finding out how we can help him be like a normal kid. He doesn’t go to school because he got kicked out of school because of his behavior. Now he is at home school. He also likes to eat stuff with sugar. Sometimes at my school some people make fun of him, they say “brrr” and clap their hands like my brother. I feel sad for him. I tell the people who do that did you know that my brother helps me in stuff but sometimes he is annoying. My brother is very good in math he got 99 percent on his math test. He’s better than me in reading the notes, the first time he sees the notes he plays them but now I know how to do that because I know what the notes are.
By Paul
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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!
Amy C. Young
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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.
Natacha, Peter’s mom
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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.
Traci
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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.
by Sue Carpenter
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