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2 years old
Georgia, USA

We got the call from our geneticist last year on New Year’s Eve that our Christian had Syngap1. As his mother, I’ve always been his biggest advocate. I knew something was awry when Christian was around 12 months old and was not reaching some developmental milestones.

Christian began physical and occupational therapy around 14 months old. It was Christian’s occupational therapist who alerted us that Christian was having seizures. We were naïve that seizures came in so many types, so we simply did not know. We immediately took Christian to a neurologist who has helped tremendously. Christian has atonic seizures and eyelid myoclonia. Last December Christian had a corpus callosotomy performed which has dropped his atonic seizures from hundreds a day to 0-2 a day. Christian was also diagnosed with autism just last week so now he will be starting ABA therapy shortly. We hope to see some gains from this therapy.

Christian is the sweetest boy. He loves hugs and kisses and being tickled.  He loves water and will play in it for hours. He loves his kiddie pool and bubble baths are his favorite. Christian loves to watch Sesame Street and even claps along to the songs. He loves car rides with the window down so the wind can blow in his face. Christian is surrounded by love from his family. Christian brings us so much joy and we could not imagine our lives without him.

– Mom