Damian’s Story 

Damian is a 3 year old boy from Texas who is always happy with a big smile. Variant: G667R

History

At approximately six months old, we became aware that Damian’s development was not typical. Because he was not meeting milestones, he was diagnosed with Developmental Delay. Damian was also experiencing up to 300 seizures a day, which was confirmed by an EEG. Genetic testing revealed a CACNA1A variant. 

Damian has low tone and unstable balance. He can sit with assistance and is learning to get on his hands and knees in a crawling position. Gaining the strength required to be able to stand independently is challenging. Damian is nonverbal and just recently began chewing and eating on his own. He has been diagnosed with epilepsy, nystagmus and ataxia. We suspect he is also experiencing migraines. 

Therapies

Multiple types of therapies have been helpful for Damian, including physical therapy, occupational therapy, feeding therapy, aquatics therapy and speech therapy.  

Advice for Newly Diagnosed

Have lots of patience.