DUNWOODY, Ga. — Imagine your child having a disease so rare that it doesn’t even have a scientific name, much less a treatment or cure.
That’s what Shanna and Terry Tolbert faced when their 6-month-old daughter, Ireland, suffered a seizure that defied explanation or a diagnosis beyond epilepsy.
After several traumatic seizures that resulted in Ireland, now 5, being intubated and hospitalized, a genetic test was performed that confirmed a mutation of a gene called CACNA1A was causing her seizures and resultant development delays.
“After the diagnosis, we went home to learn more about CACNA1A, and there weren’t any support groups or resources that we could tap into — just some scientific papers that you needed a PhD to understand,” Shanna said. “We finally found a Facebook group with about 100 members in it, and that was one of the first places we could get any real information. We all had this shared frustration — why can’t we find out more about this disease and who can help our kids?””
The Tolberts, who live in the Village Mill subdivision, realized that there was very little research, financial or emotional support for families whose children are diagnosed with CACNA1A. Shanna decided to change that. So she, along with two other mothers, Lisa Manaster and Carolyn Anderson, established the CACNA1A Foundation to raise awareness and find a cure for the rare degenerative neurological disease. It received its 501-(c)3 status in June.
One of the first steps in accelerating research, Tolbert said, is to gather data on as many people with CACNA1A variants as can be found.
“We were so lucky to have found a champion in Dr. Wendy Chung from Columbia University, who is an expert in rare diseases,” she said. “Dr. Chung is leading the way, designing a natural history study that will track symptoms, disease progression and establish standards of care across medical disciplines.”
The next step is fundraising to finance more research into the disease that could entice large pharmaceutical companies to develop medications that can treat or cure CACNA1A.
“We believe, and the doctors believe, that this is a disease that can be treated or cured with drugs,” Tolbert said. “Now we just have to get there.”
The other goal of the foundation is to help spread information and emotional support for families who are battling the disease.
“We, like the other families with CACNA1A, are in a constant battle between seizure control and quality of life,” Tolbert said. “The medicines that you must take has a huge list of side effects, and every time Ireland has a seizure and stops breathing, there is the potential of brain damage.”
Tolbert said she hopes that each CACNA1A family is able to have the kind of support she has received from her Village Mill neighbors, who live by the motto “It Takes A Village Mill.”
“This is the best neighborhood in Dunwoody,” Tolbert said. “We are forever grateful to our neighbors and Village Mill friends for their tangible and generous support of Ireland and our family over the years. They have showed up for us — bringing dinners, hospital visits, grass cutting, love and tremendous support. Our neighbors are an extension of our family.”
For more information about the foundation or to make a tax-deductible donation, visit www.cacna1a.org.