Newly Diagnosed Group

Next Meeting: TBD

Group Description: Welcome to the CACNA1A family! A diagnosis of CACNA1A can be overwhelming. What does it mean? What lies ahead? Know you are not alone. Our community is here to support and empower you. Join other patients, family members and caregivers who are also on the CACNA1A journey. Together we will support each other, problem-solve, and share resources and coping skills that we find helpful.

About the Facilitator: My name is Sarah and I am passionate about the CACNA1A Foundation! My husband Clinton and I live in Artesia, NM, with our six kids: Peyton, 17; Braxton, 15; Landon, 14; Braylee, 9; Madilynn, 7; and finally, Emarie, who is 3. We joined the CACNA1A family when our baby Emarie was diagnosed with a CACNA1A variant in November 2021. It was a difficult diagnosis for us because Emarie presented as a very healthy, typical 2-year-old until she began having severe episodes with no timeframe, warning or answers as to what was going on. Even after her diagnosis, we had absolutely no clue what CACNA1A meant and neither did any of her doctors. Thankfully, in January 2022, we had a phone consultation with a genetic counselor who broke down what Emarie’s genetic mutation meant and told us to check out cacna1a.org. Our lives have been forever changed after finding this foundation. I simply sent an email to info@cacna1a.org, got a prompt response, and had the opportunity to speak with Lisa. We found a home. We were no longer lost and trying to find answers alone. Now it is my mission to provide that same safe space to other newly diagnosed families.

Group Description: You are NEVER alone. Join a CACNA1A community conversation group for parents and caregivers of individuals living with Developmental and Epileptic Encephalopathies (DEEs) and/or Severe Hemiplegic Migraine caused by a CACNA1A variant. We encourage you to take advantage of the opportunity to engage with others in a safe and supportive environment.

DEEs represent a group of devastating epileptic disorders that appear early in life. They are characterized by drug-resistant generalized or focal seizures, persistent severe EEG abnormalities, and cognitive dysfunction or decline.

Severe Hemiplegic Migraines (SHMs) are distinct from classic or familial hemiplegic migraines. SHMs include migraine with aura where the aura consists of weakness of the face, arm, and/or leg, but SHMs can also be progressive and result in uncontrolled seizures and/or potentially life-threatening brain swelling. During an SHM, alteration in consciousness can occur and the one-sided weakness becomes evident after seizures are controlled. Individuals susceptible to SHMs may also have symptoms in between attacks, including delayed development, balance difficulty, and abnormal eye movements (nystagmus or paroxysmal tonic upgaze).

About the Facilitator: My name is Shanna Tolbert and my husband, Terry, and I live just outside of Atlanta with our girls, Ireland (7) and Brooke (3). Ireland has a CACNA1A variant that causes DEE (Developmental and Epileptic Encephalopathy), ataxia, autism and severe hemiplegic migraines. I have found "my tribe" among other CACNA1A-related DEE moms who have supported us through hospital stays, medication changes, the trauma of severe events and the challenges of daily life. I'm thankful for the opportunity to facilitate supportive connections during our support meetings with other parents who truly get it.