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

PatientPerspectiveLiam1What does progression mean? What does it mean to have a degenerative disorder? I thought it meant that with every day, things would get a little harder for me to do. Every day I would type a little slower. Every day I would be a little worse at the pegboard test.

But that’s not what it feels like to have Friedreich’s ataxia. We have good days and bad days. I know that if I am sleepy, hungry, or tired, I will have a harder time with my symptoms. and the opposite is true. If I get a good night’s sleep and have a solid breakfast, I am a pegboard test master. 

We also get better at doing repetitive motions. This is probably more of a “practice makes perfect” thing that applies to all humans, but the more we do something (think: opening a peanut, or, say, moving your heel up and down your other shin), the better we get at doing it. We learn things every time we try it–about how hard to push, what the best way is to position our bodies, etc etc etc.

Pegboards, or the classic touch-your-nose-then-my-finger-then-back-to-your-nose, or any other assessment of physical ability, does not measure progression directly–just things that generally correlate to it. The “progression” in FA comes from increased damage to the nervous system, which causes loss of abilities. We can usually only test these abilities, which is kind of like trying to guess the temperature of a glass of water by how many ice cubes you can see in it. You can definitely argue that the symptoms caused by nerve damage are important to consider, but if we want to think about treatment, we should try to go deeper.

I was glad to take part in the Neurophysiologic biomarkers in Friedreich Ataxia study. The best way to test the temperature of the water is to stick a thermometer in it. And the best way to test the temperature of that same water in 15 minutes is to stick the thermometer back in, in 15 minutes. In this way you can measure change. The biomarkers test is a step toward giving us a way to measure nerve function directly. And patients are tested at regular intervals over the course of a year, so changes can be seen and recorded.

This is one of the many FA tests being run out of Children’s Hospital of Philadelphia. I know tests like this are important, because they bring us closer to understanding the mechanics of the disease, which will make it so much easier to find a cure.

My favorite part of the study so far is the Motor Evoked Potentials (MEPs) test, which measures your response to electrical stimulation of motor centers in your brain. The technician moves a big wand that emits magnetic pulses over my head. If they are over the right part of my brain, my finger moves slightly. Using electrodes placed on my hand, the size of the movement and time between the pulse and my movement can be recorded. This offers a great look at how my nerves function and how the movement of my muscles relates to impulses in my brain.

Even if not based around a potential therapy drug, these smaller studies are a huge part of the fight for a cure. Tests on physical abilities are important, but they can only take us so far into understanding progression. Studies like the biomarkers one hold the key to a fuller understanding of the progression and FA itself.  If you would like more information about participating in these studies, please visit:





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