Newly Diagnosed
You are not alone.
This is Emily at her high school graduation with her siblings. Emily has a CACNA1A variant.
Getting a rare disease diagnosis can be a scary time in a family's life. Know that you are not alone. Those with CACNA1A variants have different sets of symptoms and no two patients are precisely the same. Early intervention, intensive therapies and appropriate seizure control are critical factors in patient outcomes. We are a small but mighty community, and we are in this fight together.
Understanding Your Genetic Testing Report
Learn About Symptoms
Next Steps
Find Support
Understanding Your Genetic Testing Report
When you receive a genetic test report, it can be overwhelming! What do all of those letters and numbers mean? Interpreting them is not for the faint of heart. Welcome to the world of rare diseases! If you have questions about your report, a genetic counselor is best suited to explain it to you. However, we often leave appointments with questions we wished we had asked or ones we didn’t think of until after the fact. We hope this document helps answer some of your questions.
Below are 3 5-minute videos created by Pangkong Fox, PhD, the CACNA1A Foundation’s Science Engagement Director, that explain genetics concepts and how to understand a genetic testing report - Click each video to watch!
Learn About Symptoms
CACNA1A variants are associated with multiple neurological disorders. Individuals exhibit a variety of symptoms that fall on a spectrum from mild to severe.
What’s Next?
Before receiving a diagnosis of CACNA1A, you and your child’s healthcare provider probably noticed that your child exhibited developmental delays, which hopefully resulted in a referral to Early Intervention (In the USA, often known as “Birth to 3” and available to all qualifying children, through the age of three and sometimes beyond, in every state under federal law.) Once your child has received a CACNA1A diagnosis, it is imperative that you meet with your pediatrician or another qualified professional and your school district to ensure that appropriate interventions, including early intervention, special education and related services (physical therapy, occupational therapy, speech and language therapy, etc.), are being provided.
Find Support
CACNA1A patients often require many types of therapies and visits to various specialists to address co-morbidities. The amount of care needed for a loved one can leave rare disease caregivers feeling exhausted, overwhelmed and socially isolated. The effects of CACNA1A-related disorders are far more than just managing symptoms and can impact multiple areas of a family’s life. It is crucial to find a support system that may consist of family, friends, therapists, and respite care. Be sure to ask for help and let others know when you are feeling anxious, overwhelmed, or depressed. Find support from other parents who understand the challenges of being a CACNA1A caregiver by joining the private Facebook group.