Matthew

Posted on:

41 years old
New York, USA

Written in the voice of Matthew:

I (Matthew) live in Upstate New York in the Binghamton area. I live in a group home with 5 other men like myself. I go home to my parents for an overnight on what I call “home leave” on Wednesdays & Fridays. I love home leave. I also love my day program which I call “work” and especially love to volunteer with Meals on Wheels as part of my community service. I have two rescue dogs, Paka & Maddi – whom I love to see, and they jump on my bed while Mom reads my favorite bedtime story. I also go to a special needs Special Olympics, going out to eat, bowling, dancing, parties (especially my birthday pool party) and going to visit friends. And I LOVE to paint.

Written by his mother, Ellen Feldman:

Absence seizures started at age 2 or 3. We noticed them as eye flutters which were 2-3 seconds in duration and sometimes with a slight head drop. We had to point these out to our doctors, and have always had to proactively advocate for Matt. We brought Matt to New York/Columbia Presbyterian when he was 12 months old when we were frustrated with local pediatricians because we felt Matt’s development was lagging and the doctors were too dismissive in his lack of progressive development. Matt was not walking, his speech was very limited, and he suffered screaming behaviors for undetermined causes. At that time, Matt was diagnosed by the head of pediatric neurology as severely delayed with an unknown cause. Essentially no diagnosis other than receiving his assessment that Matt will “never go to college, never ride a bike, never drive a car” and you’ll never know why. At that period of time genetic testing could not reveal his diagnosis – until we tried genetic testing again 39 years later in 2022. In 2022 we opted for a third party reassessment by an internationally acclaimed expert in the diagnosis and treatment of autism, who suggested genetic testing as well as other potential changes in medications.  Over a period of many years in past, we continued to search for a diagnosis as well as the best possible supports for our son. We spent time at John Hopkins, Kennedy Krieger Institute, Geisinger Medical Center, etc.  It was only until September 2022 that whole exome genetic testing revealed that Matt has SYNGAP1.

For our son, we want him to live his best possible life – being happy, as an integral part of the community, engaged in what he likes to do, and to be safe & healthy. For the SynGap Community – we hope at some point there is a cure, and/or a set of treatments that can reduce/eliminate the horrible symptoms/effects of this disease.

Some advice for newly diagnosed families, stay connected to the SynGap community. Do service where & as you can. Know that your child can be happy – perhaps not in the way you planned, but happy in a way you can discover. And, the journey will make you stronger as a result.