English
0
Sanford, North Carolina
23 years old
March 23, 2022

Brian

The date on Brian's genetic report showing Syngap1 diagnosis was 4/21/17.  He was 19 at that time. Brian does not have an epilepsy diagnosis.  He has never shown evidence of seizures that we can tell. He is now 23 and we live in Sanford, NC.  

Our county has a public school, Floyd L Knight School, that is exclusively for special needs children ages 3 thru 22.  Brian attended from age three until he graduated in 2020.  They were a lifesaver for us as they accepted him how he was and they were very familiar with IEP's and all the other stuff others have to fight in typical schools for their kids.

Over the years, there was elopement, sleep issues, toilet training (not accomplished until mid teens), not understanding danger, poor fine motor skills. We didn't know about the Medicaid Innovations waiver until he was about 10 and then he was on the waiting list for nine years.  Before that it was fighting the insurance company about covering out of network sensory ST and OT visits because there were none in the network.  He has had OT and ST ever since he was three years old. He is somewhat verbal but doesn't make complete sentences and has a hard time pronouncing a lot of words. BUT he has come such a long way. He also has balance issues...he can walk but stairs have to be taken slowly and carefully and sometimes he has tremors when he's trying to do something.  And for the past several years, the hardest thing is his anxiety (altho I am not sure that is the correct word really).  He loves to go out into public but he will all of a sudden focus on a person and start yelling very loudly at them and it's like he is in a trance. It is very hard to get him calmed down. That is the biggest struggle because HE LOVES to go places and we just can't very much.  We are working on that currently.

He is smart but can't always get those ideas out.  He LOVES anything that spins...ceiling fans, box fans, fans, fans, fans.  He loves tractors, hit and miss engines, any kind of machine with gears, pulleys, belts, etc.  He is a huge Teletubbies fan (Original not the current one lol).  He watches videos on his iPad of all of those things above plus Wheel of Fortune, Price is Right, Family Feud, Millionaire, Jeopardy, fair rides. He LOVES to go to Dave and Buster's and play the games and watch the lights. He also loves Wowie Zowie Gumball machines of which he has several and loves to play them.  He also loves playing Little Critter, Reader Rabbit, and Jumpstart games on the computer (yes, Mom has to scour Ebay for Windows 98 computers that the games will work on).  Seems everything that Brian loves is old...he finds things on his ipad and shows them to me over and over and I know he wants it and I have to start a mission to find it.  No Amazon gifts for this guy lol. (I recently found him a Gemmy Rocky the Singing Lobster from 2000 for Valentine's Day.)  He loves to laugh and be silly with us and he loves to play different Nintendo systems from Super Nintendo through current Switch.  He is an electronics guy! And he loves It's a Small World and all the roller coasters at Disney World! He also plays baseball with Miracle League (we travel to Raleigh to participate)! And he is in a local bowling league for special needs folks, Challengers, A League of Their Own!  

We Need Your Help

We can use your help to raise awareness about SynGAP1.

© Copyright  2018-2022 Syngap Research Fund  | All Rights Reserved | 
Privacy Policy
RegistryNewsletter
0