Six months ago, our 10-year-old son Jake was diagnosed with Friedreich’s Ataxia. When his neurologist explained FA, she told us that FA has no treatment and no cure. The diagnosis is staggering. Learning that there is no treatment and no cure (yet!) took our breath away.
After taking a few months to cope privately with the diagnosis, we were ready to talk about it publicly. By that time, we had combed the internet and had read everything we could find about FA. We are a family always on the go. We just couldn’t sit idly by and watch the disease progress. We needed to do something to respond to Jake’s diagnosis. Consequently, we were so grateful to learn about and attend the Patient Symposium in Philadelphia last October. At the symposium, we learned about biomarker studies and clinical trials. (Biomarker studies have no direct benefit for the participants, but the studies gather specific information about FA patients that can be used in future clinical trials. Clinical trials explore whether or not a specific therapy is safe and effective for humans.) Each study and trial has specific qualification criteria, so I compiled a list of the studies and trials that Jake was eligible for, and I called Jen Farmer, Executive Director of FARA. She’s so knowledgeable and helpful. She spent time explaining each of them and their objectives. Importantly, she also outlined the time commitment for each. Because FA is a progressive disease, most of the studies and trials require repeat visits to track the disease’s progression over time. All of the studies and trials would require travel, so we needed to balance our desire to contribute to FA research versus the practical constraints of school schedules, childcare for our other children while we travel, and cost.Add a comment