Ezra’s Story 

Ezra just turned one and lives in Louisiana. He is a laid-back, happy little boy who loves to laugh and play with beads.  He enjoys human interactions the most.

Variant:  c.439 C>A (p.Glu147Lys)

History 

Ezra has an eight-year-old sister with global developmental delay, hypotonia, ataxia, cerebellar atrophy, as well as a history of febrile seizures. She remains undiagnosed. At three months old, Ezra began showing signs of developmental delays, and as he was not meeting milestones, we immediately put him into physical therapy. Occupational therapy followed shortly after. At six months old, we enrolled Ezra in speech therapy due to poor feeding and not making verbal sounds. When Ezra was around ten months old, he was admitted into the ER due to febrile seizures caused by a respiratory infection. The seizure activity progressed into a generalized seizure. He had 15-20 seizures in a matter of an hour. This event led to an epilepsy diagnosis and required a high dose of Keppra to stop the seizures. The next day Ezra was able to leave the ER with instructions to take Keppra twice a day. The epilepsy diagnosis made Ezra eligible for an epilepsy gene panel, which revealed a CACNA1A variation.

Ezra is making good progress but is still not meeting age appropriate milestones. He struggles with weak muscles, a severe fine motor delay, has not yet rolled over, sat independently, babbled or said words.

Diagnoses

• Ataxia

• Epilepsy

• Global Developmental Delay

• Hypotonia

Therapies

Physical, Speech and Occupational Therapies have been the most helpful.

For Those Newly Diagnosed 

Don’t let the diagnosis define your child. Trust your instincts if something does not feel right -- a mother’s intuition is a powerful tool.