Brooke’s Story
Brooke is a 33-year-old woman from Idaho who received a diagnosis of a CACNA1A variant eight years ago when she was 25. Like many adults with CACAN1A, it took years for her to obtain an appropriate diagnosis. It was her mother Shaunna's intuition, that finally led to genetic testing and a diagnosis. Shaunna tells us that Brooke's strengths are her determination, empathy, ability to encourage others, and her expressions of love. She likes to keep to a routine. Brooke and her family attended the 2024 CACNA1A Family Conference in Bethesda, MD. Her parents explain, “Maneuvering a rare diagnosis is an uphill battle. But when Brooke smiles, giggles, and laughs, she reminds us of what she has overcome and continues to conquer daily. She makes this fight worth it. She is our treasure and hero!”
Variant: deletion
History
Brooke's mother, Shaunna, explains that when Brooke was under 2 years old, specialists would be flown in to evaluate her. The medical team would meet, assess her, and give a diagnosis—but something about it didn't feel right. Shaunna says that at the time, she was young, and so she went along with their conclusions, but as the years passed and Brooke's health issues persisted, she started questioning their approach. Shaunna gained the reputation of being “that mom” whose child was always sick. It felt like the doctors dismissed her concerns, offering explanations just to placate her, which only fueled her determination to find real answers.
As Brooke grew older, her health continued to decline, but the doctors insisted there was nothing more they could do. They weren't hearing Shaunna's concerns, so she decided to look beyond Idaho for help. By chance, through word of mouth, she discovered a genetics specialist based in Seattle who also worked in Idaho. When they finally met, the specialist asked if they had any ideas about Brooke's condition. Shaunna told her she didn't know but was certain it was rare given the challenges they'd faced throughout their medical journey.
Diagnoses
CACNA1A - seizures, migraines, ataxia, nystagmus, GI issues
Malan Syndrome—A deletion in the CACNA1A gene can contribute to Malan Syndrome. While the primary genetic cause of Malan is a mutation or deletion in the NFIX gene, the CACNA1A gene is located nearby on the same chromosome (19). Thus, a deletion encompassing both genes can also lead to Malan Syndrome's characteristic features, particularly an increased risk of seizures, a long, triangular face, a prominent forehead, and dental anomalies.
Craniosynostosis (a condition where the bones in a baby's skull join together too early before the brain is fully formed. As the baby's brain grows, the skull can become misshapen.)
Visual impairment
Non-verbal (speech and language pathologists believe Brooke is mute)
Hearing impairment
Sleep apnea
Scoliosis
Developmental History
Right away, after Brooke was born, it was evident that she was not typically developing. She did not meet motor, speech, cognitive, social, and behavioral developmental milestones. Today, she struggles with patience, behaviors, cognitive delays, walking, and the ability to communicate (outside of mom, who understands her :-)
Therapies/Education
Physical therapy and music therapy have been extremely helpful. Brooke currently lives in a certified family home and receives family-direct services.
For Those Newly Diagnosed
Keep advocating even if you need to go outside of your state. It's okay to let your doctor know you'd rather them admit, “I have no idea, or I have no experience," over misdiagnosis and wasting each other's time. In other words, at times, it's okay to fire your doctor.
It's also important to realize that the medical industry is constantly evolving. In 1991, none of this testing was available to us. In 2016, Idaho specialists had no clue about CACNA1A, so we focused on Malan. In 2023, we were finally able to see the only specialist who had experience with both of Brooke's diagnoses through the CACNA1A Foundation's Family Conference. We brought brochures home and educated Brooke's team on CACNA1A. As a parent of an older child with a diagnosis, you must push through the emotions of the “would've, could've, should've, even the “what if," to the answers of today!!