Liam Watson
  • Variant: c49384939insGAT pI1646R1649insD
  • SCN2A, Epilepsy, Epileptic Encephalopathy, Intellectual Disability, Autism, Eosinophilic Esophagitis, Osteopenia, Cortical Visual Impairment

Hi, I'm Carson.

Carson loves video games and anime. He likes to read and learn about animals and art. His favorite thing to do is hang out with his sister.

Carson's SCN2A diagnosis was not confirmed until he was 18 years old. However, Carson's journey with SCN2A began with his first dose of seizure medication in the NICU at 2 days old. He spent much of the first two years of his life in the hospital with a NICU stay then an extended stay to repair an intestinal malrotation. This was followed by stays related to failure to thrive from eosinophilic esophagitis.

As a toddler, Carson was diagnosed with autism. Carson began having more seizures at age 4 and these became harder and harder to control. He had multiple rounds of genetic testing that did not detect the mutation early on, but a persistent geneticist kept telling us to keep looking.

Just before transitioning to adult neurology services, one last round of genetic testing was completed. This revealed the SCN2A mutation with the Variant: c49384939insGAT pI1646R1649insD. Carson's diagnoses now include SCN2A, epilepsy, epileptic encephalopathy, intellectual disability, autism, eosinophilic esophagitis and the recently added osteopenia and cortical visual impairment.

Carson is ending his last year of community based job training. He hopes to get a job at a local grocery store this summer. He is currently receiving HCBS waiver supports. He has participated in a drug study and is thriving with better seizure control. Along with the seizure control, came understandable language for the first time in his life.


Our goal is to find a cure!

Did you or your child just receive a new diagnosis of SCN2A? If so, please know you are not alone!