Trey’s Story 

Trey, who is from New Jersey, is 17 months old. According to his parents, Kristi and Eric, he has a smile that lights up any room and brings so much joy to everyone around him. Trey’s favorite things are snuggles, bananas, and Elmo! Despite his disability, he works so incredibly hard in therapy and at school and is getting stronger every day. Trey’s best friend is his 8-year-old sister, Stella, who helps him so much. Kristi writes, “Trey is teaching us about unconditional love and patience. She exclaims, “Trey is the best! We love him, and he is the light of our family!”

Variant:  c.4028C>A (p.Ser1343Tyr) - de novo

History 

When Trey was 3.5 months old, we realized that his development was atypical. At the time, our pediatrician agreed that Trey’s eyes were wandering and that he would benefit from seeing a pediatric ophthalmologist. After two visits, we were referred to get a second opinion at Children’s Hospital of Philadelphia (CHOP). Our neuro-ophthalmologist didn’t know what was going on. At 6 months old, he was diagnosed with Duane Syndrome (an eye movement disorder present at birth that is a rare form of strabismus, or misalignment of the eye, and characterized by a horizontal eye movement limitation.) At 7 months old, Trey had a brain MRI with contrast and an EEG. At that point, we were referred to a neurologist and geneticist. At 11 months old, he was diagnosed with a developmental delay, and then at 15 months old, Cerebral Palsy. When he was 16 months old, we received the genetic report back that confirmed the CACNA1A mutation. It’s been a wild ride!

Trey is making progress but is still not meeting age-appropriate milestones. He has very low tone, so skills like sitting and holding things are incredibly difficult. He began rolling at 15 months old and is currently working on sitting independently. He struggles with self-care tasks. He has issues with tracking objects because of the PTU. He cannot eat or move independently, but we are working hard to help him in these areas. We can tell he really wants to move. He should have custom AFOs soon so he can practice standing up with a gait trainer.

Diagnoses

  • Global Developmental Delay

  • Paroxysmal Tonic Upgaze (PTU)

  • Nystagmus

  • Hypotonia

  • Ataxia

  • Dystonia

  • Duane Syndrome

Therapies

Trey gets physical therapy and occupational therapy twice a week, developmental intervention, and vision therapy. The combination of all of these has been so helpful!

Education

Trey attends a Montessori school and is in the youngest toddler class. He gets most of his therapies in school. His teachers are wonderful - They make tons of accommodations for Trey and are very inclusive!

For Those Newly Diagnosed 

Take things one day at a time. At first, we were so impatient to know what was going on. Now that we have an answer, we are trying to enjoy Trey and celebrate every tiny inch of his progress. Information is power. Join a group for support. There are also tons of podcasts that have been really beneficial for me as a mom. You are now part of the CACNA1A family, and it’s a very supportive group of people. We got this!