Hello! My name is Frankie Perazzola, 24 years old and diagnosed with FA at age 22. I started STEADFAST/Actimmune/ Interferon Gamma in February 2016 which later came to an unexpected stop in November of 2016. This drug was supposed to increase levels of frataxin which all FA patients lack. Since frataxin is essential for energy production, Actimmune was expected to increase the specific protein which would potentially increase energy levels and possibly increase mitochondrial function. Two simultaneous shots, every other day were required by injection in my arms and legs. The first portion of the study, I did not know if I was injecting the drug or a placebo. However, I was guaranteed the drug for the second portion and even had the option of continuing until approval by the FDA- which I later opted for.
Another option I went for was the muscle biopsies- which is essentially a mini operation requiring a small incision on the thigh that leaves you a tad sore afterwards. No anesthesia required. I learned through my main neurologist, Dr. Perlman, that muscle biopsies were a better way to measure frataxin levels. By better, I mean a more accurate way to measure the levels compared to just giving blood and cheek swabs, because muscle is considered affected tissue. If I was participating in a trial, I wanted to give everything I could in order for my results to be as precise as possible.