Newly Diagnosed
You are not alone.
This is Emily at her high school graduation with her siblings. Emily has a CACNA1A variant.
If you’ve just received a CACNA1A diagnosis for yourself or your child, you may be feeling overwhelmed, confused, or even scared. That’s completely normal. Right now, you don’t need to have all the answers—you just need to know this: you are not alone!
The CACNA1A Foundation was created by families who have stood where you’re standing. We’re here to walk alongside you, offer guidance, and connect you with a community that understands. This is the beginning of a new chapter, and we’re with you every step of the way.
Learn About Symptoms | Understand Your Genetic Test | New to CACNA1A Toolkit
Neurological Event Preparedness | Next Steps | Find Support | Additional Resources
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.
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!
New to CACNA1A Toolkit
The “New to CACNA1A” Toolkit is a free resource for families beginning their CACNA1A journey. The kit is a starting point, providing essential information to help you understand the diagnosis, navigate medical care, and connect with others who can truly empathize with your experience. You can order a kit or download electronic resources below.
The New to CACNA1A Toolkit includes:
Welcome Letter from the CACNA1A Foundation (download here)
New to CACNA1A: Next Steps (download here)
Welcome to CACNA1A Brochure (download here)
Journey of Hope: Stories of Our CACNA1A Champions Brochure (download here)
Supporting Siblings Brochure (download here)
Medical Providers Brochure (download here)
CACNA1A-related Eye Movement Disorders Brochure (for medical providers) (download here)
CACNA1A-related Epilepsy Brochure (for medical providers) (download here)
CACNA1A-related Ataxia Brochure (for medical providers) (download here)
A CACNA1A Foundation folder to keep everything organized—plus some swag to brighten your day and remind you that you’re not alone on this journey.
None of the information in any of these materials constitutes medical advice, diagnosis, treatment, or recommendation. Always seek the advice of your doctor, or other qualified health professional, with any questions about or related to a medical condition.
Neurological Event Preparedness
There are a few medical emergencies that can be caused by CACNA1A variants, including hemiplegic migraines and seizures. These can be life-threatening events or cause permanent damage. Because of this, it is necessary to educate yourself on how to recognize and respond to these neurological events.
Seizures and epilepsy can range from mild to severe. If your child has epilepsy, it is imperative to educate yourself about SUDEP, or Sudden Unexpected Death in Epilepsy, and seizure preparedness and safety. Information on creating a seizure action plan can be found here.
Hemiplegic Migraines are associated with gain-of-function variants. Our Hemiplegic Migraine Resource Library provides information on CACNA1A-related hemiplegic migraines, preparing for a first-time event (including videos and quotes from caregivers), and creating an emergency action plan.
What’s Next?
Before your child was diagnosed with a CACNA1A-related disorder, you and your healthcare provider likely noticed developmental delays. This may have led to a referral for Early Intervention—sometimes called “Birth to 3” in the U.S.—a free program available in every state for eligible children up to the age of three.
Now that you have a diagnosis, it’s essential to meet with your pediatrician or a qualified professional, as well as your local school district, to make sure your child is getting the proper support. This may include Early Intervention services, special education, and related therapies such as physical, occupational, and speech therapy.
Find Support
Caring for a loved one with a CACNA1A-related disorder can be overwhelming. These conditions often require ongoing therapies and visits to many different specialists—especially for challenges like sleep issues or GI problems. It’s more than just managing symptoms—it can affect every part of family life.
You are not alone. Many families feel exhausted, isolated, or unsure of where to turn. That’s why it’s essential to build a support system, which may include friends, family, therapists, or respite care. Don’t be afraid to ask for help—or to share when you’re feeling anxious, stressed, or burned out.
You can also connect with other parents who truly understand what you’re going through. Join one of our monthly Community Connections virtual meetups to find support, share experiences, and feel less alone.