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PLAE-it-forward + Juliann, of The Cute Syndrome Foundation

December 4, 2017 3396 Views

We’re willing to bet that you haven’t given much thought to your body’s powerful ion channels lately. Yet, even when you ignore them, they still perform a critical role in your body to keep you functioning and playing the way you do. Sadly, a very rare and as-yet-inexplicable mutation in the SCN8A gene that encodes one of those super-important ion channels can cause us to have seizures, developmental delays, and an overall medically fragile state.

Photographs care of Juliann Bradish, The Cute Syndrome Foundation, and TCSF’s FB page

Going from a smile to a seizure is no fun. The good news is that mountains are being moved in the medical community by dedicated folks like Hillary Savoie and Juliann Bradish, Co-Executive Directors of the non-profit organization The Cute Syndrome Foundation (TCSF), to prioritize exploration of this bewildering phenomenon. These laser-focused moms are unwilling to wait for science to prioritize SCN8A investigation. Bradish says, “We are determined to accelerate the pace of research and discovery on the SCN8A gene.”

Photo credit: Ryan Collerd Photography

In addition to raising funds to back urgently-needed research, TCSF harnesses the sheer power of passionate volunteers to improve the lives of those living with SCN8A and to unite folks in encouraging, educating, and enlightening the global community. In partnership with two neurologists, TCSF has also created an SCN8A Clinician’s Information and Reference Guide to help clinicians and families team up to improve the quality of care received by SCN8A patients.

At the time that Bradish’s daughter was diagnosed with SCN8A epilepsy, there were only 12 known cases worldwide. But in early 2015, TCSF founder Savoie discovered the online support group Bradish had created in 2014 and the two advocates partnered to strengthen their shared mission. Since then, TCSF has expanded to include more than 150 families in 29 countries. Now, a dynamic global movement is underway to find a cure!

Want to make it easier for TCSF to speed up the process of researching the SCN8A gene? Use checkout code GIVE494 every time you shop and we’ll donate 10% of your PLAE purchase price to The Cute Syndrome Foundation (TCSF). Shop now to earn a donation.