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What is Friedreich’s Ataxia?

You may be wondering based on the title, “Yeah, what is Friedreich’s Ataxia?” Well, it is a simple answer about a very complex and difficult problem. Friedreich’s Ataxia (Well known as FA) is a genetic disorder that is very rare in many cases. It is an autosomal recessive gene, meaning that it is not visibly present in all carriers, but can be transferred to a person’s offspring. If two parents both have the recessive gene, they would have a 1 in 4 chance of passing it to their child. As a breakdown of the name, “Friedreich’s” is to credit the doctor that discovered the genetic disease, and “Ataxia” is of Latin origin meaning “without order.”

The symptoms vary based on the patient, but some symptoms are more rare than others. The most commonly seen symptoms include:

  • Difficulty walking
  • Loss of balance
  • Weak or stiff muscles in arms and legs
  • Lack of coordination
  • Difficulty sensing vibrations on legs and feet
  • Heart problems (palpitations, larger muscle size, shortness of breath, etc.)
  • Eventual loss of mobility in legs and possibly arms (Paralysis)

There are other symptoms that can occur, but they are much more rare or only show in later adulthood. These rare symptoms include loss of hearing, slurred speech, diabetes, and heart murmurs. Most people who have FA see the first signs around puberty or before they turn eighteen. It can also, but very uncommonly, lie dormant until their thirties to forties.

Now, here is another question that you may have, “Why are you writing about this?” Well, if any of you know me, my girlfriend, who does not attend our school, actually has this disorder. Her symptoms began showing around two years ago. I met her over a year ago and fully got to know her in the past two months when we started dating. She began to tell me about her condition, so I have been learning more and more about it as well. I just wanted to get the word out to an audience of any magnitude, so thank you for your attention. If you feel that you can contribute to the cause, I will leave a link at the end of this article. The charity will aim to cure the disease, and so far it has been able to discover a way to delay the symptoms for up to a year at the most. The more they can be funded to research, the more they can cure this disease, along with fixing other muscular disorders. Thank you very much for reading and any help if you provide! Link: https://www.charitynavigator.org/index.cfm?bay=search.summary&orgid=12621