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FARAFARA Cure FA

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

TriciaHerman Maul1Hi, my name is Tricia. I was diagnosed with Friedreich's Ataxia via a DNA test at the age of 28. My diagnosis was no surprise as my sister, Tara had been diagnosed with FA in 1997. When I received my diagnosis the neurologist also handed me a paper about FARA and information on how to enroll in their patient registry (which I immediately did). After years of researching Friedreich's Ataxia I had never found information on FARA and was enthusiastic to become involved. In 2009 my husband, sister, and myself attended the symposium in Philadelphia where we met so many wonderful people and started connecting with the FA community. Since then we have attended FAWoodstock, Ride Ataxia Chicago, and held our own FARA Fundraisers. Through FAWoodstock I have been able to participate in blood draws, skin biopsies, hearing studies, and network with FARA representatives.

In November 2015 I received a message from Jen Farmer asking me to participate in a research study at the University of Rochester, New York entitled “In-Vivo Confocal Imaging of Meissner's Corpuscles as a Biomarker in Friedreich's Ataxia (FA)”. Without much hesitation I was excited to be “nominated” to finally be a part in the research and trial efforts of FARA. After being diagnosed with Friedreich's Ataxia in 2008 I had been patiently waiting for my opportunity to be part of a trial that wasn't demanding time away from home to complete. Living in Western New York with my husband, CJ and 3 children: Amelia (11), Calvin (9), and Justin (8) the location and requirements of the trial were very important to me. After speaking with the study coordinator, Janet Sowden I found this study would only require 3 day visits (Nov. 2015, May 2016, Nov. 2016) to Rochester, NY which is only 90 minutes from my home. Arrangements were made for CJ and I to spend the night in a hotel just minutes away from the University of Rochester Medical Center for the following week. 

TriciaHermanMaul2The day of the study we arrived before 8am to the Medical Center excited and anxious for what the day would entail. Since everything was set up so fast I never received the paperwork in the mail so I was unsure exactly what I had gotten myself into. I quickly find out there will only be 16 chosen FA patients whose trial results will be paired to a healthy person of the same age to measure how FA progesses in the Peripherial Nervous System and how useful these methods may be to look at changes during future clinical trials. After some paperwork and a routine exam I was eligible to participate. We soon began with the study tests, that's when the real fun began!

The study consists of 8 different methods:
1. Blood Draw
2. Friedreich's Ataxia Rating Scale (FARS)
3. In-Vivo Confocal Reflectance Microscopy
4. Nerve Conduction Studies (NCS)
5. Timed Vibration Testing
6. Quantitative Sensory Testing (QST)
7. Monofilament Touch-Pressure Threshold
8. Skin Biopsy

First, a quick blood draw to check my HBA1c level. Then I got to meet Dr. Herrmann, Dr. Peter Creigh, and an attending physician who completed a series of physical movements with my mouth, speech, arm/leg strength, and reflexes for the Friedreich's Ataxia Rating Scale (FARS). I have done this method of testing with Dr. Lynch a few times at FAWoodstock so I just did my best and tried not to be disappointed in myself as I noticed a physical decline in my strength and coordination since the first tests like this in 2011.

I had a few minutes of rest while the team brought in the In-vivo Confocal Reflectance Microscope and we were joined by a company representative that manufactures the equipment who also assisted with it's operations. This process was really neat! We were able to watch on the computer screen as the microscope showed layers of skin on my hands and feet revealing nerve “pits”. The purpose of this test was to show how far the nerves travel to the outermost layers of skin.

TriciaHermanMaul3Next up was the nerve conduction study, this was definitely my least favorite. During this test, small electrodes are placed on your skin and a shock of varying intensity and duration was sent thru my hands, arms, and feet. Michelle, who administered the test used a lot of pressure and differing shocks to get good readings, but it was a very uncomfortable test as the muscles contract during each shock. The purpose of this test is to calculate the speed by which nerves carry information.

After lunch I met with the physical therapist to do the walking and standing portion of the FARS test. While being timed I completed the peg board test with both hands, stand with eyes open, stand with eyes closed, one footed stand, and a distance walk. Again I just did my best and asked my husband to stand close by during the eyes closed testing (so I didn't take out the little therapist with a fall).

Back into my room I completed the Quantitative Sensory Testing. For this test a sensor was strapped to my hand and foot that delivered and instant cold and I had to press a button when I felt it. The intensity of the cold varied to find the threshold at which I could feel the change in temperature. Likewise, there was a vibration test to report the threshold when I could feel a certain intensity of movement. The picture shows my hand on bean bags to prevent me from feeling any vibration transferred to the table.

My favorite test was the monofilament touch-pressure threshold test. During this test a nylon monofilament with varying strengths (like fishing line) was touched to my fingers as I sat with my eyes closed and I had to tell Joan (study coordinator) if she was touching my finger or not. This was repeated 10 times per filament until I got at least 7 right in the sequence of 10. I thought this was a very accurate measure for me, the threshold at which I could feel the filament was very obvious. What I didn't like was that per study guidelines we could not move on to the next filament if I could not feel it I had to guess and repeat 10 times. This test really made me concentrate, patiently and took about a half hour to complete.

TriciaHermanMaul4Before I left a skin biopsy was taken from my thigh. The skin was to be frozen, then cut in layers, and studied under a microscope. The experience awesome! It was about a 10 hour day, longer than expected since I was there first patient in the study but, definitely worth it.

I am hopeful from my experience that one test will show a positive and non-intrusive method to measure FA progression in the Peripheral Nervous System that can be used to monitor patients in future clinical trials.

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

triciahermanmaulcommunitysi

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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