Breanna’s Story 

Breanna is currently 13 years old and was recently diagnosed with a CACNA1A variant. She is very outgoing and loves to dance! Contemporary and jazz are her favorites, although she’s so excited because she just got accepted into a pre-pointe class and will be taking that in addition to her other dance classes. Breanna’s family took her to the Nutcracker for the first time this winter and she fell in love with the ballet! She also enjoys going to the theatre and is looking forward to attending some musicals during the next season. Breanna loves being in the pool and would spend every day in the water if she could! Between dance, swimming and physical therapy, she is becoming stronger every day!

Variant:

p.C1875*
c.5625del

History 

Unlike many children with CACNA1A variants, Breanna met all of her milestones on time and did not exhibit developmental delays, although she did have seizures. As a baby, she had febrile seizures and by the age of 3, she had an epilepsy diagnosis. At 4 years old, she was diagnosed with ataxia, which presents mostly as dizziness and balance issues. The dizziness appears when she over-exerts herself or if she doesn’t eat or drink enough. She does not do well in the heat, and usually always ends up having a seizure if she gets overheated and her ataxia worsens. Her mom, Nicole, states that they’ve also noticed that Breanna’s body does not sweat like it should, to help keep her cool. She writes, “It was not until November 2021, however, that we became fully aware of all of her issues.” The path to diagnosis was the result of Breanna’s epilepsy and ataxia having increased in severity. She had begun sleeping most of the day and was physically unable to stay awake. At the time, we thought it was due to her medications so we decided to have a Vagus Nerve Stimulator (VNS) surgically implanted, as a means of controlling her seizures, ultimately allowing us to start weening her off some of the medications. In preparation, we went in for an MRI and an overnight EEG and that was when we learned of her brain atrophy. In January 2022, Breanna’s doctor ordered genetic testing to try to figure out why her brain had shrunk significantly. In April 2022, we received the results of her CACNA1A variant. Since then, she has come off one seizure medication and her ADHD medication to try to help with some of the side effects. Genetic testing revealed that Breanna’s father also has the variant, although he currently doesn’t present with any symptoms. As a young child, he had epilepsy but has grown out of his seizures.

Diagnoses

Epilepsy, ataxia, anxiety, ADHD, brain atrophy, learning disability, problems with short-term memory, misfire in gene PCLO (no other information known on this).

Therapies/Education 

Breanna’s learning disabilities and her short-term memory issues are two things she really struggles with. Her ataxia sometimes gives her trouble. However, PT has been extremely helpful. She has an Individualized Education Plan (IEP) and is in a self-contained classroom. She receives physical therapy in school as well as outside of school.

For Those Newly Diagnosed 

Keep your head held high. If you research, do it wisely and make sure that you go in with the understanding of exactly what side effects affect your child. Trust your doctors and the process it will take to get answers and know that you may not get all the answers you are looking for.