Ireland’s disease is so rare that it doesn’t have a name, treatment or cure - simply identified by the name of the gene it is on.
Earlier this year, her parents, Terry and Shanna Tolbert of Dunwoody, helped form the CACNA1A Foundation, a nonprofit for their daughter and other children with this rare neurological disease to speed research options and establish clinical trials.
“CACNA1A is a gene that plays a vital role in the communication between neurons in the brain,” according to www.cacna1a.org.
Ireland’s CACNA1A mutation is neurodegenerative, “meaning things do not get better from here,” Shanna said.
The foundation’s treasurer said, “For about a year, I felt called to share Ireland’s story on the internet. When I finally put her story out there, I connected with another CACNA1A mom, Lisa Manaster,” who is the foundation’s president.
“Since meeting Lisa virtually and a few other mothers with affected children, every door has opened along the way. I believe God brought us together for a purpose,” Shanna said.
Incorporating in March and launching its website in July, the foundation has raised more than $100,000 in three months as a parent-led volunteer organization, with all money going to CACNA1A research through the foundation’s grant program.
“Ireland has opened our hearts wider and grown our faith deeper than we could have ever imagined,” her mom said.
While most of her days are filled with normal activities, the severe epileptic seizures the 5-year-old has are medical emergencies, according to Shanna.
Events next year will include the foundation’s first annual Scientific and Family Conference - to be online with the date to be determined - and Run Walk Roll on June 12.
Information: cacna1a.org/events, facebook.com/cacna1a
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