Last month, I attended a PTC Therapeutics meeting with two other Friedreich’s ataxia patients named Kyle Bryant and Connor Sweeny, plus people who work for the Friedreich’s Ataxia Research Alliance (FARA). PTC Therapeutics is one of FARA’s gene therapy development partners. The day consisted of watching “The Ataxian” followed by a patient panel discussion during which researchers asked Kyle, Connor, and me about our disease experiences.
One of the questions posed was, “What is one piece of advice you can provide to a new FAer and their family who just got introduced to the disease?”
Kyle emphasized knowing you are not alone, no matter the isolation and loneliness you may first feel. The FAmily is so tightly knit, regardless of our varied demographics. To piggyback off Kyle, Connor mentioned that not only is it important to know the FAmily exists, but also to get involved to ward off loneliness.
FARA has many avenues for involvement for patients and caregivers. For example, one could become a FARA Ambassador or write for the nonprofit’s blog, or attend hangout sessions hosted by the ambassadors, support groups, grassroots events, fundraisers, and more.
When it was my turn to respond, I explained the process and importance of submitting personal and diagnosis information to the FARA Patient Registry. This was the first task I completed when I got home from Johns Hopkins University Hospital after being diagnosed. This was crucial because it entered me into a “portal” that assessed my qualification for clinical studies and trials.