Eleanor’s

Story 

Eleanor is a 4-year-old girl from Missouri. According to her mom, Katelyn, she is the happiest girl who loves water, music and dancing. She continues to thrive even through the countless obstacles thrown her way.

Variant: A713T
Gain of Function 

History 

Eleanor was born in 2018. By three months old, her family became aware that she had global developmental delays, including lifting her head, rolling over, sitting and so on. She walked two months before her third birthday.

Eleanor presented with complex febrile seizures just after her second birthday. Her seizures were extremely difficult to break and sometimes required respiratory intervention. She later developed focal seizures as well as non-febrile tonic clonic seizures and was diagnosed with Epilepsy. By three years old, genetic testing resulted in a CACNA1A diagnosis, which is when they learned that she also suffered from ataxia. 

Eleanor is currently working towards developing speech and using an AAC device. Her mom says they are still working on getting control of Eleanor’s seizures but she has been able to avoid status episodes since starting on anti-epileptics.

Diagnoses

• Epilepsy

• Ataxia

• Hemiplegic migraine? - We believe that Eleanor has possibly had one episode

Therapies 

At 18 months old, Eleanor began receiving occupational, physical and speech therapy. These have helped lay the groundwork for her continued success.

For Those Newly Diagnosed 

Reach out to the Foundation. The amount of support, connections and resources they have provided has been pivotal in our journey.