- Born: Jan 30, 1998 | Variant: c.1176G>A
- Cerebral Folate Deficiency, Hypotonia, Mitochondrial Dysfunction
Hi, I'm Liam from Greenlawn, New York.
I love my beard and never met an iPhone or iPad that I didn’t like!
Our Liam is 24 years old. He has SCN2A with loss of function and autism. We first found out from a geneticist in 2013 that he had this mutation, but none of his doctors knew what to do with that information. We were referred to be seen by neuro genetics at CHOP in 2019. He does not have seizures but does have several other health conditions. While he is only minimally verbal, he is quite adept at using a letter board (RPM) and that serves him well for communicating. He attends a local day program where he works on vocational, social, athletic and communication skills. Friday’s are his favorite as he gets to go out for lunch with his friends. He is smart, handsome, happy and sweet and is loved by all who know him. He has a special bond with his older brother and sister, who love him to the moon and back!