Thank you for reading this week’s column.
Just kidding! I want to unpack that question, because it is a valid one. Plus, the answer has a pretty interesting backstory. I am a columnist without any real scientific training, so this column is not a science article, and shouldn’t be considered one.
As a Friedreich’s ataxia (FA) patient I recognize the importance of the distinction between FA and muscular dystrophy (MD), and hope to bring that to light. I had this column fact-checked by two of my more scientifically intelligent friends, Shandra Trantham, another FA patient who is a graduate student in genetics at the University of Florida, and Lauren Wilkinson, former care and clinical services specialist for the Muscular Dystrophy Association (MDA) and current associate director of patient engagement at Aavanti-Bio, a company working alongside the university with the sole purpose of finding a genetic therapy for FA.
The Floridians and I are about to drop some knowledge.
I’m lucky enough to work alongside two brilliant columnists at sister site Muscular Dystrophy News Today — cool Hawken Miller and warm Leah Leilani. Their columns vividly describe the symptoms that result from their forms of dystrophy: progressive muscle weakness and the loss of muscle control, which has led both to use wheelchairs.
That is similar to Friedreich’s ataxia patients’ progressive muscle disuse, which often leads to atrophy and the use of walking aids like walkers or wheelchairs.
I am not the only one to notice the seemingly identical presentation of FA and MD. Since the formation of the MDA in 1950, only nine types of actual muscular dystrophy have been discovered. Friedreich’s ataxia was assumed to be among unidentified neurological classifications of muscular dystrophy served by the MDA.
That assumption changed in 1996, when the FXN gene was discovered. Suddenly, the root cause of FA was known: It wasn’t by genetic mutations that specifically affect the muscle, as with MD, but by a genetic mutation that disrupts the ability to produce energy in many different types of cells. This changed the very understanding of FA. As I wrote before, 1996 was a big year.
Thus, FA is no longer considered a type of muscular dystrophy.
However, the MDA still supports FA. Friedreich’s ataxia is still listed on the MDA’s site, even though FA is definitively not a form of muscular dystrophy. The MDA has even provided over $1 million to fund research for a genetic therapy for Friedreich’s ataxia. Because of that generous donation, Aavanti-Bio exists.
With their entangled history, many people still assume the FA is a form of MD. Though these two are not the same disorder, their unique relationship with each other cannot be overlooked.
As an FA patient, I am strengthened to see the challenges met and overcome by Hawken, Leah, and all those in the MD community. I am also forever grateful to the MDA for providing education about FA, and for its magnanimous gift toward finding a treatment or cure for FA. Aavanti-Bio thrives because of this donation.
A common theme in the story of rare diagnoses is how ostracized, how alone, we feel.
As the MDA shows me, those diagnosed with rare disorders are not as alone as we think.
FA and MD are not the same disorder, even though they present similarly, and the FA community is made stronger by the MD community.
Friedreich’s Ataxia News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.The opinions expressed in this column are not those of Friedreich’s Ataxia News or its parent company, BioNews Services, and are intended to spark discussion about issues pertaining to Friedreich’s ataxia.
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