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FARAFARA Cure FA

Patient Perspective: Mary's Experience Participating in a Research Study

MaryNadonScott2Hi, my name is Mary. I am 34 and live in central Vermont with my husband and two young children, joined in the summers by my two step-children. I was diagnosed with FA 13 ½ years ago, though I have only been an active part of our FA community for a little over 2 years. I think for a long time, I didn’t quite know how to accept or cope with this disease. So I didn’t.

After attending the 7th Annual Friedreich’s Ataxia Symposium, sponsored by FARA and CHOP in 2014, I became alive in a way that I hadn’t felt before. Through meeting FAmily, networking, and being immersed in our community, I felt for the first time in 12 years that I belonged. After that symposium I had the amazing experience of being involved in my first clinical drug trial: Reata’s RTA-408 phase 2 group 1. The whole experience was amazing and life changing.

After this last year’s 8th Annual Symposium (I also had the opportunity to attend the rideATAXIA Philly for the first time!), I truly felt like I was on a mission to be an active part in our community and FAmily. The first time that I heard about the FA study at The University of Rochester entitled “In-Vivo Confocal Imaging of Meissner’s Corpuscles as a Biomarker in Friedreich’s Ataxia” through an email from FARA, I was “all in”. I read the brief description, and called the study coordinator Janet, right away. I was so excited to be involved in research again, taking another step closer to finding a cure! 


MaryNadonScott3After many conversations with Janet, who is an absolutely wonderful woman, my father and I headed out on our 6 ½ road trip on Martin Luther King Day. Well, due to it being January in Central NY and lake effect snow, our trip ended up being 11 hours. My Dad is a pretty awesome person and an excellent road trip companion, thank goodness!

So after a good night’s rest, we checked in at Strong Memorial at 8:30 am. Once we were all checked in, Janet brought us back into the room. This was to be my room for the whole 8-hour day. She went over the study paperwork again with me (previous to this day I received this info both in email form and in print that was mailed to my home, so that I could read at my leisure and ask any questions that I might have), read over the consent forms, and asked if I had any questions. After the forms were signed we were done with our paperwork for the day. Next up were vitals, very routine; blood pressure, temperature, pulse, height and weight.

I then had the pleasure of meeting Dr. Peter Creigh who did a medical history, clinical exam and performed a Friedreich’s Ataxia Rating Scale (FARS). The results of these tests showed that I was then officially eligible for the study.

This pilot study looks at ways of measuring how FA progresses in the peripheral nervous system and how useful these methods may be to look at changes during future clinical trials. There will be 3 visits in this trial; this initial visit, one in 6 months, and then the last in one years’ time.

MaryNadonScott4The day was full of many tests that were performed by a team of wonderful and caring people. My Dad left shortly after Dr. Creigh finished the timed vibration testing exam, knowing I was in good hands with Janet and the nurses. The procedure that took the longest was the In-Vivo Confocal Reflectance Microscopy. In this procedure Janet used a microscope to look into the skin on my fingertips, palm of my hand, and my foot. Prior to this, through many trial and errors, we learned that my digit 5 (pinky finger) had a thick layer of callous from years of using a manual wheelchair (which I had no idea! I thought my thumbs would have tough thick skin?!). So Dr. David Herrmann (conducting the study) suggested that we used strips of packing tape to apply to my skin and remove, to take of some layers of callous/dead skin. What a cool idea! Dr. Herrmann was super nice, and it was fun to chat with him and Janet while we were getting my skin ready. Once my skin was ready, a few drops of non-irritant oil was applied to help with the magnifying and light beams for taking pictures.

The next was Quantitative Sensory Testing. This test was performed by a wonderful nurse named Joan, with the use of vibration and cooling; vibration impulses and a coolness sensation impulse. This test is absolutely painless, and a pretty neat way to test your sensory thresholds. Then Joan administered the monofilament touch-pressure threshold test. This test uses nylon filaments to determine how well you can feel the sensation of touch on your fingertips, palm of your hand and your foot. Another one of those tests where you close your eyes and apologize for not feeling anything, until the test is almost over.

MaryNadonScott5After meeting with Physical Therapist Kate, who is full of both kind words and great advice, I then got comfortable on the hospital bed for the last two procedures; the Nerve Conduction Studies and a Skin Biopsy. They both went well and just as I expected. The Nerve Conduction Studies were done by a woman named Michelle, who was both brilliant and fun to chat with while she did a great job of keeping my mind off the test. It doesn’t really ‘hurt’, but it doesn’t really feel that good either. For those of you who haven’t had this test done: they put small round discs with wires on your arms and legs, then receive mild shocks to stimulate peripheral nerves. Waveforms generated by these shocks are recorded on a machine and used to calculate the speed by which the nerves carry information.
The last procedure of the day, the Skin Biopsy, went smoothly as well. The biopsy site was my outer thigh. The worst part was the local anesthetic, which feels like Novocain that dentists use before doing dental work. Once the skin is numb, a “punch” is used to remove a small circle of skin (about the size of a pencil eraser). After applying antiseptic ointment, sterile bandages are applied, and then it’s done!

By the time my Dad came back to get me, I gathered up all of my things and said goodbye, we ended up leaving a little after 6:00 pm. It sounds like a long day, and it was (9 ½ hours- some tests took much longer than anticipated), but it was also a day that I spent with kind and caring people who are all invested in this FA study. I really enjoyed this first study visit. Aside from a great road trip with my very supportive Dad, study also put us up in a hotel the night before, provided me with a yummy lunch, and will compensate us for mileage and tolls while traveling.

I highly recommend participating in drug trials and FA studies. For me, it’s a way that I can take an active role in finding a cure.

Click HERE to learn how you can be involved in this biomarker study at the University of Rochester.

 MaryNadonScottmarynadonscottcommunitysign

About the Author

The FARA Ambassador Program

The FARA Ambassador Program

The FARA Ambassadors are a united team of patient volunteers living with FA who are committed to supporting FARA in the search for a treatment and cure.
 
Together we seek to know more about FA, and FARA so we can be prepared to represent the community when the opportunity arises; speaking at events, to volunteers, potential donors, scientific groups, pharma partners, media interviews and other awareness and fundraising opportunities. We believe support is key to continued success toward our ultimate goal of treatment and a cure. Participants in the FARA Ambassador Program are passionate about building and upholding relationships within the FA community.
 
The FARA Ambassadors are positive, supportive, peer representatives for the FA community, actively raising awareness and funds for FARA. To learn more about the FARA Ambassador Program or to have a FARA Ambassador speak at your event, please contact: info@cureFA.org.

 

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