My Nonprofit Reviews

My son was diagnosed with a rare genetic disorder in early 2019. With very little information available about the disorder, we found our way to a Facebook group of other families with the disorder. Little did we know, one year later, that a group of mothers in the group took it upon themselves to start a journey to not only benefit their own families, but all families of people with variants on their CACNA1A genes.

They had founded the CACNA1A Foundation.

Since its inception, the foundation has surpassed the limits of what I thought an organization could accomplish. In the midst of a global pandemic, the amazing board members pulled families, clinicians, and researchers together for a virtual conference sharing information and broadening the understanding of CACNA1A-related disorders. Their fundraising efforts awarded grants toward CACNA1A-related research. Their information efforts spawned a website that provides a centralized repository of CACNA1A-related information, something that wasn't even piecemeal before their effort; there were merely a few research papers available with references to the gene.

They've continued to be laser-focused, hosting regular research roundtables, hosting an in-person conference connecting families and researchers, gathering necessary data (like the Natural History Study), continuing to raise funds to support research, and I can't even imagine what else.

Thanks to the CACNA1A Foundation, a disorder that was barely understood in February 2019 now, in October 2022, has high potential for both treatments and a cure. Those newly diagnosed now have a plethora of data available after diagnosis to provide answers and maybe even, a glimpse of hope.

Avery, we his parents, and Avery's Avengers (https://www.facebook.com/AverysAvengersCacna1a) thank the Foundation from the bottom of our hearts for everything they've done and continue to do.