0
Chesapeake, Virginia
19 years old
November 6, 2019

Tommy

Tommy is our SynGAP warrior who was finally diagnosed in October 2017 after a very comprehensive and extensive medical workup. He has a splice mutation at Intron 13, epilepsy (primarily Lennox-Gestatut patten). We have seen at least 5 different types of seizures, tried multiple AED medications and various combinations and have settled on Lamictal, Tripeptal and Topamax. He is very limited in his expressive language, has bowel issues, global cognitive developmental delays that were first noticed at 4 months old. We currently have him in a fabulous autism school program, in-home support, and recently added ABA therapy as behavioral issues and outbursts have become more significant. Tommy has an infectious smile, loves ‘warm fuzzy’ attention and his big brother (26) ia a hands down favorite. He also has a 23 year old sister. Some of his favorite activities are watching and cheering at high school sporting events, chuck-e-cheese and bowling in a special league and going out on our boat hoping to see "ales", also known as dolphins. His other favorite is a collection of lawn chairs and I mean about 30. He enjoys looking at pictures and youtube videos. He is very social and active in our community of Chesapeake. From what I know he is the only diagnosed Syngapian locally. He brings our family so much joy, despite the challenges and he has taught me patience and adaptability. I love him with all my heart. I like to say I live with Superman!

We Need Your Help

We can use your help to raise awareness about SynGAP1.

© Copyright  2018-2021 Syngap Research Fund  | All Rights Reserved | 
Privacy Policy
RegistryNewsletter
0