4 years old
St. Petersburg, Florida
Warrior #238
Meet Jack Sylvan Leeson! Named after his grandfathers and great grandfather, Jack is 4 years old and lives in Saint Petersburg, Florida, USA!
Jack made his appearance in May of 2022; born with big biceps, a cute face and a big personality. Very early on Jack was labeled by his pediatrician as “colicky”- the term used to explain the hours of crying and reflux he was experiencing. Despite this, he was meeting all of the expected milestones until around 3-4 months, when we started noticing he was no longer making attempts to roll to his belly after he had been trying for several weeks. Mom expressed concerns at pediatrician visits, but was told not to worry and that he was just moving a little slower than most his age. It wasn’t until 7.5 months old that, with help from family, Jack started making more attempts and eventually learned to roll.
Soon after this, at 8 months, he started having spasms that caused his neck to turn to one side and pulled at his facial muscles. The pediatrician still wasn’t overly concerned, however, mentioned Jack could see a neurologist if we really wanted to, but that it likely wasn’t necessary. An appointment was booked as a precaution, given the several month wait, but deep down we knew something was off. Jack still wasn’t babbling and was “behind” in all categories; physical, social, cognitive. He also started screaming and grunting repetitively. Hours on the phone trying to move up the appointment and more missed milestones led his mom to call the Early Steps program in Florida to have Jack assessed for early intervention therapy. At 11 months old Jack was assessed and finally they agreed that he was significantly delayed and should start therapies with an early interventionist.
The neck spasms continued and once Jack was finally able to see a neurologist at 12 months, his combination of repetitive behaviors, delayed milestones, social delays and spasms was chalked up to a likely Autism diagnosis; although it was too early for doctors to label. More visits to the pediatrician led to more “don’t worry” ’s and “he’ll grow out of it”. This didn’t quite sit right as the only explanation and needless to say, we later switched primary care pediatricians.
Despite being extremely strong, Jack had floppy wrists, twisted and uncoordinated legs and obvious issues with his motor movement; almost as if he were moving in slow motion. This led us to get a second opinion; then a 3rd. Normal EEG’s, normal MRI. This was starting to make us wonder, is it really JUST Autism? One of the neurologists mentioned genetic testing as an option, but we were told it doesn’t always explain what’s going on and had only a 30% chance of catching something if there were even something to be caught. We proceeded anyway, with very low expectations for findings and began the 3-4 month wait for results to come back. During this time Jack took his first steps at 19 months and started walking at 20 months. He and his parents were thrilled! His gait was consistently wobbly and still is to this day, but he was doing it.
One month before his 2nd birthday on April 12th, 2024 the genetic results came back. Mom got a call that Jack showed a missense mutation in the SYNGAP1 gene on chromosome 6; in which one silly G allele was accidentally replaced with an A. She explained this likely was a random event that happened at conception, a “copy paste error” in his DNA and in no way was related to the pregnancy, the birth, or anything thereafter. She informed us he was only one of 50 individuals with that type mutation and one of only 1400 in the world with a SYNGAP1 mutation in general. It was a relief to know what was going on however that was quickly met with absolute fear and devastation. A 2 minute phone call changed everything. The lack of information out there on SYNGAP1 mutations was alarming; seizures, significant developmental delays, no cure. We were left to navigate life with no directions on how to help our son through this.
The next day, explaining the situation to her co-workers, mom’s dental associate mentioned her friend happened to work at the Center for Epilepsy and Neurodevelopmental Disorders (ENDD) at CHOP (Children’s Hospital of Philadelphia). She told them about Jack’s findings and ironically, they had a program in which they were actually researching SYNGAP1 as part of a natural history study. We were able to fly up to Philadelphia a few short weeks later for Jack to be assessed as part of the study.
While at CHOP we met other families and the conversation about potential benefits of Acetyl Leucine, a simple amino acid, came up. Many families around the world were trialing it and if you could get your hands on it, as it is only available over the counter in France (labeled Tanganil, a vertigo medication), results seemed promising with minimal side effects. We started the medication in July of 2024 and on day 1, Jack babbled for the first time. “Ba ba ba”. We couldn’t believe it. Hope for our son to be able to one day communicate his needs and lead a more “normal” life was at an all time high. After a few months, more sounds, vocalizations etc came about. Jack’s energy levels were up and he seemed to be socially more present and physically more adventurous. It wasn’t a cure-all, but we noticed a significant difference in his overall ability to learn, which was promising in itself.
Therapy continued, eventually speech, OT, PT. In September of 2024 Jack was diagnosed with level 3 autism and it was recommended that we get a, yes, 4th opinion on his jerky neck movements. Dr. Parrish Winesett, a epileptologist in Ocala, Florida was the recommendation. After multiple denials of being able to schedule with him, due to him not accepting new patients, we became a bit defeated.
Around that time, Jack also happened to be referred to Dr. Michelle Winesett, a gastroenterologist and Dr. Parrish’s wife, for his still present reflux. During that appointment we discussed Jack’s movements and that he was in fact referred to her husband, but we were told we could not get in with him; he only saw patients on a case by case basis. She explained that he was actually recently researching SYNGAP1 and said, “i’ll be right back”. One phone call to her husband, the epileptologist FAMILIAR with this rare SYNGAP1 mutation and boom! We got a phone call from his office asking if we could come in THE NEXT DAY! We were thrilled! Jack would get an EEG and a full assessment and hopefully we would get more information about what was new and upcoming with SYNGAP1 research.
When that day came, excitement quickly turned melancholy when we were told once again there was no cure, but that something may come long in the next 5-10 years to trial. He told us Jack may never speak, as most children reported in studies with his mutation did not, and because his EEG was normal (his 5th normal result at this point) we were advised to continue with therapies and hope for the best.
Jack started ABA therapy that November. Around that same time he was able to say “uppa” for up. His first word! Next was “oooo” for open and just before his 3rd birthday, on Mother’s Day, we got our first MAMA! By this time Jack was learning at a much faster pace. He was becoming significantly more social being around other kids at ABA and, as told by his therapists there, was flying through his learning goals. Behavior goals were another story as aggression continued to increase. Excessive screaming, mood swings, biting and immense struggles with transitions all continued to develop as well.
In April 2025 Jack’s best friend was born- his little brother Colton! From Day 1 he was obsessed and hasn’t left him alone for a second since. They seem to have their own language that none of us are privy to understanding, but that’s ok. They wrestle, tickle, giggle and get into mischief from sun up to sun down and we wouldn’t have it any other way.
A little over a year later, Jack’s 4th birthday came and went and mom and dad thought, how lucky we must be to go 4 years with no seizures. Maybe we might be one of the lucky ones? One of the less than 5% of SYNGAPians with no reported seizures. After all, the average onset is around 2 years old. It made the birthday celebration that much more sweet. However, A few days after his 4th birthday, mom got the call that she had always dreaded…. Jack was having a seizure at school. It was a tonic seizure; no convulsing, but after dropping to the floor, tensed arms, rolled back eyes and lack of consciousness to what was going on around him soon followed. After mom arrived 2 minutes later, Jack was still in and out of consciousness. The paramedics arrived soon after, assessed him and he started to come to, about 5 minutes in.
As a pretty typical 4 year old would be, he was actually pretty excited about his ambulance ride. An ER visit led to a bridge medication (Klonopin) and a one month wait to get in with neurology to figure out what would follow for Jack’s life thereafter. As most who experience seizures know, there isn’t a whole lot you can do and that is devastating. Finding the right fit of medications, hoping for the best, and just monitoring seizures as they may still happen…. and all you can do is watch, maybe call 911 if it lasts longer than 2 minutes. That’s it; that’s all the advice. Keep living as if it’s just your new norm. When we did get back in with neurology it was decided that we would switch from Klonopin to Lamotrigine; a mood stabilizer used to control seizures. Jack continues to take 500mg of Tanganil daily along with sulforaphane supplements.
Now 4 and a half, Jack is thriving. His dosage of Lamotrigine has been keeping seizures at bay and he is learning so much at his ABA center. They describe him as “a charismatic and happy kid who has made tremendous progress in all areas, most significantly in his communication and social skills. Jack loves to meet and play with new peers. You can always find Jack sharing and playing with friends!” He and his brother teach each other everything and have truly helped each other blossom. Jack communicates with some words, signs, and an AAC device. His receptive language is perfection and his expressive language is getting better and better by the day. He is the sweetest boy with the CHEESIEST, most beautiful smile you’ve ever seen. He screams loudly, laughs louder, and loves vacuums more than anything on Earth. His favorite hobbies include swimming, pushing his little brother, and, of course, vacuuming.
Our hopes for the future are that Jack can live life the way he wants to live it; no limits and nothing holding him back. His family and friends are all pushing hard to raise awareness about SYNGAP1 and promote a fast and safe cure for our loved ones who deal with this condition. We are excited to participate in this year’s golf event Scramble for Syngap to do just that!!
We continue working for the best future for ALL of our SYNGAPians and if we had one piece of advice to give it would be, be present. The future is wide open and can be scary, exciting, terrifying, full of hope; but soaking up each little win and every good day with these perfect, amazing, funny, loving children is all we have in the here and now. Despite our struggles, that can be pretty great.
