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.
At the end of my call with Jen, we prioritized the list of studies and trials that I planned to pursue. Jen sent letters of introduction (via email) to each of the study coordinators. Within a day or two, each of the study coordinators contacted me. We reviewed the prerequisites for each study and confirmed that Jake would be an eligible participant. After that, the study coordinators emailed very thorough informed consent files. The informed consent explains everything about the study in detail. It talks about how many visits are required and the timing of those visits. It describes each test/procedure in detail and outlines all of the associated risks. After reading the informed consent, I really understood exactly what Jake would be asked to do.
At that point, I sat down with Jake and discussed everything with him. I encouraged him to participate while his symptoms are less severe and we are able to travel easily. He was excited about contributing to FA research, and the idea of fun road-trips and plane rides was also exciting. He couldn’t wait to participate!
Once he was on-board, it was just the simple matter of scheduling. I looked at Jake’s school schedule and found dates that worked for both us and the study sites.
In December 2016, we drove to the University of Rochester to participate in a biomarker study titled “In-Vivo Confocal Imaging of Meissner's Corpuscles as a Biomarker in Friedreich's Ataxia (FA)”. The study coordinator had made arrangements for us to stay in a hotel close to campus, and the study paid for our room. The next morning, we followed the very clear directions to the appropriate building, found the reserved parking spot, and went inside to get started. The coordinator was waiting for us, and we started by reviewing the informed consent. I signed the consent, and Jake gave assent to participate.
As soon as the paperwork was complete, a well-organized day of back-to-back tests began. Jake met with the study’s neurologist who administered the FARS test, then he went to an evaluation by a physical therapist. After that, another study coordinator used an innovative microscope to observe and measure Jake’s Meissner’s corpuscles. This was not invasive; it simply required Jake to sit still for about 45 minutes. After that, he did a series of other tests that are described well in previous blog posts by other participants.
The final two components of the study were a nerve conduction test and a double biopsy. Jake had previously done a nerve conduction test with his local neurologist, and it was extremely painful for him. I'd told him that he never had to do that kind of test again…but, here we were, part of a biomarker study that needed the data. Because Jake was under 13 years old, this part of the study was optional. We talked about it at length. He was reluctant, but I asked the study coordinators to explain how the data they collected from the test would help with their research. Once he understood that this was one more piece to the puzzle, he offered to start the test with the option of asking to stop if it got too painful. Jake is a strong-willed kid; as soon as he agreed to try it, I knew he would see it through to the end. It wasn’t pleasant for him, but when he finished the study, he turned to the coordinator and said that he had one request: that they needed learn a lot from his data to make sure that the pain he had felt was for a worthwhile purpose.
Similarly, the biopsy involves cutting the skin, but there were no stitches and the numbing medication made it no big deal for Jake. He was highly entertained by the huge bandages that they put on such tiny incisions. We try to laugh through it all, so we had fun taking goofy photos with all the testing gear. It was a long day, but it wasn’t painful or stressful. Jake’s main comment was that all of the tests primarily used his non-dominant side, so the left side of his body was exhausted and ready for bed, but his right side wanted to go out and explore the town. The absolute highlight of his day was ordering lunch from the hospital menu. When he learned that he could order TWO desserts, he turned to me and asked if I’d sign him up for as many biomarker studies as I could find. With kids, it’s sometimes the little things that bring big happiness.
That evening, we left Rochester and drove to Philadelphia for more studies and for the baseline visit for the methylprednisolone clinical trial. Deciding to have Jake participate in biomarker studies was easy; most of the studies were non-invasive data collection, so the risks to Jake were minimal. Participating in a clinical trial was a much more difficult decision. For this trial, Jake will be taking multiple rounds of methylprednisolone. Methylprednisolone is a commonly prescribed steroid, so the potential side effects are well-documented and minimal (at the dosage and duration of the trial). My husband and I decided that the opportunity for potential improvement was worth the significant travel commitments.
We had worked with Dr. Lynch’s coordinators to schedule a comprehensive visit. Like the coordinators at Rochester, the CHOP team was fantastic, supportive, and incredibly helpful before, during, and after our visit. They gave me hotel recommendations, including hotels that offer a CHOP rate. They gave me excellent directions so that we knew when and where to meet up with the team. Once we checked in at CHOP’s reception/registration area, we didn’t have to worry about a thing. The coordinators had the entire visit planned, and they took us where we needed to go, when we needed to be there. From a patient perspective, it was such a relief! Hospitals can be confusing, and appointments don’t always start and stop as scheduled. The coordinators manage all of that. They are in constant communication with all of the departments, so if we’re running behind schedule, they keep everyone in the loop and juggle the appointments as needed. All Jake and I had to do was stick with them, and we were all set.
Our experiences at CHOP and at the University of Rochester were really positive. We were so grateful to have the opportunity to meet Dr. Lynch, Dr. Lin, and the other researchers. They allowed us to ask questions, they shared their extensive experience with FA, and we were so encouraged by their commitment to the FA community and finding a cure. FA is a difficult disease, and making decisions on behalf of your child is a significant responsibility. For our family, getting involved in studies and trials has been a very rewarding decision, and we look forward to participating in even more promising trials in the future.
Read about these experiences from Jake's perspective HERE.
To find a list of studies that are looking for volunteers, please visit curefa.org/active-clinical-trials.