By Barby Ingle, PNN Columnist 

This month’s rare disease spotlight is on Friedreich’s ataxia, a genetic nervous system disorder, first described by Nikolaus Friedreich, a German doctor, in the 1860’s.

Dr. Friedreich may not have fully understood how genes worked over 150 years ago, but now we know that Friedreich’s ataxia is inherited by children who receive two defective copies of the FXN gene, one from each parent.

People born with Friedreich’s ataxia (FA) usually develop their first symptoms in childhood. They often have difficulty walking, poor balance and slurred speech due to nerve degeneration in their spinal cords. The symptoms are progressive and steadily worsen with time.

As we learned in high school biology class, the nervous system continually carries information from the brain to the body and back again to the brain. The nerves tell our bodies how to move and walk, without us having to think about every step. With FA these sensory signals are disrupted and the brain has difficulty coordinating balance and movement, resulting in impaired function. Fortunately, FA does not affect reasoning and thinking, just the ability to communicate.

There are other types of ataxia diseases, all rare, but FA is the most common hereditary ataxia condition in the United States. According to the National Organization for Rare Disorders, about 1 in every 50,000 people inherit this disorder.  

As I was researching this rare disease, I reached out to a teenager with FA to see how she was handling the symptoms at such a young age. To protect her identity, I will call her Ken.

It has been noted that it takes about 10 years of dedication in an area of study to become an expert on a topic. In Ken’s case, she has lived her whole life with FA and become an expert as her symptoms developed. Ken has difficulties with her balance, coordination and movement. She is on medication, but still has muscle spasms and soreness.

Ken also has anxiety and depression due to the disruptive effects of FA on her life. She believes there is a societal stigma on people with rare diseases and wishes the world wouldn’t judge her.  

About 15% of people with FA do not have any onset of symptoms until they are 25 or older. Some with FA can live well into their 60’s and beyond. Older patients with FA may develop scoliosis that requires surgical procedures or back braces.

Similar to other neurological conditions such as central pain syndrome, FA patients may develop difficulty swallowing. FA can also lead to cardiomyopathy, a disease of cardiac muscle that causes heart failure or arrhythmia. About a third of people with FA develop diabetes.

Genetic testing can now provide a conclusive FA diagnosis, so if an infant or toddler is showing symptoms of the disease, they should have an evaluation by a neurologist or another medical professional to determine the cause.  FA is not yet one of the genetic conditions covered by newborn screening legislation that I have spoken to my state representatives in Arizona about. But there are federal laws that help us check for inherited conditions like FA.

I look forward to the day that all 7,000+ rare diseases are screened for at the time of birth so that preventative care and coordination can take place, giving children a better chance at a fuller and longer life.  If you have Friedreich’s ataxia and are interested in being a part of the research to help find a cure and treatment, please contact the FA Research Alliance (FARA).

My hope for Ken and all those living with FA is that a cure will be found someday. In the meantime, we can do our part to help lower stigma about rare conditions by advocating for research and meaningful support for the millions of people who live with them.

Barby Ingle lives with reflex sympathetic dystrophy (RSD), migralepsy and endometriosis. Barby is a chronic pain educator, patient advocate, and president of the International Pain Foundation. She is also a motivational speaker and best-selling author on pain topics. More information about Barby can be found at her website.