Friedreich’s Ataxia: An Invitation to Learn

After being in the medical field for over 40 years, I never stop learning, nor do I want to, and there is no lack of new things to learn. New drugs are constantly being produced, continuing research on illnesses producing new data is being conducted, technology is ever-changing, and there are lesser known illnesses not taught in nursing school, or long forgotten due to their rarities. Friedreich’s Ataxia is one of those illnesses for me.  It wasn’t until recently that I learned the name of the rare illness that plagues a young girl in our church family. Her mom tirelessly runs a campaign each year to create awareness and raise money for the disease that robs her daughter of her strength.

Friedreich’s Ataxia (FA) is not a newly discovered disorder. It was first described in 1863 by German physician Nicholaus Friedreich. It is a hereditary disorder caused by a mutation in the frataxin gene (ftx) that leads to progressive and irreversible damage to the nervous system. It is a recessive gene, meaning that the presence of one mutated gene from a parent will not cause the disease, but if both parents are carriers, and each donate an abnormal frataxin gene, then the offspring will develop signs and symptoms of the disease.

Early symptoms of Friedreich’s Ataxia, which usually, but not always, occur in childhood, are balance, coordination, sensory, and speech disturbances that worsen as the disease progresses. Loss of reflexes and problems with swallowing, loss of vision and hearing may occur.  Other physical manifestations include high foot arches and scoliosis, also known as curvature of the spine, and eventually weakness in the limbs. Cardiac problems and diabetes are also known consequences. One thing that is not affected is cognition or intelligence.

Disease progression varies, but 10-20 years after the onset of symptoms, victims may be confined to a wheelchair and may eventually become totally incapacitated. A diagnosis of Friedreich’s Ataxia can affect life expectancy, cardiac complications being the most common cause of death, although an individual may live into his or her 60’s, if the symptoms are less pronounced.

Although there is currently no cure for this degenerative disease, individual symptoms can be treated by medications, surgery, and physical therapy to assist a sufferer in maintaining as much function as possible for as long as possible.

The National Institute of Neurological Diseases and Stroke (NINDS), a division of the National Institute of Health (NIH), researches the workings of the brain and nervous system to try and tackle the tough questions surrounding the illnesses that stem from one or more of their malfunctioning components. Researchers are attempting to learn what causes the genetic mutation responsible for FA, how it functions, how to override the defect, and how to develop treatments. For more information and to donate to this worthy cause, go to https://www.curefa.org/index.php.

For readers living in the greater Raleigh, NC area, North Raleigh United Methodist Church, 8501 Honeycutt Road, Raleigh, NC, will be hosting a movie event on Saturday, October 6, at 7PM. The movie “The Ataxian” will be shown and refreshments provided. I was unable to access the original site for the movie, but you can see what it’s all about at https://www.imdb.com/title/tt4126322/plotsummary. I invite everyone who is reading this post who lives anywhere near us, to come, gain knowledge, support victims, and enjoy fellowship with others. And if you are unaffected by a devastating illness of any kind, count your blessings.

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