Frederick’s Ataxia: The Lesser Known Degenerative Muscle Disease

I grew up in a small town in Oregon where everyone knows everyone. At least that was true in the 50s and 60s when I was growing up. I attended a small elementary school and remember seeing a girl a year ahead of me being carried by the teachers to her classes. Sometimes she would walk slowly, tripping over her feet, but generally a teacher had her in his arms. I was a first grader and Sharon was about 7 or 8 years old. She was smaller than most children her age, and very cute with long dark hair and pretty blue eyes.

When I began high school, I found myself sharing some of the same classes with her. Sharon was now in a wheelchair and for some reason, I was the one usually pushing her from class to class. She could still use her arms at this point, but it was a struggle for her and if she was going to make it to class on time, someone needed to help guide her through the sea of teenagers congregating in the halls.

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Sharon and I became very good friends. We would laugh and talk about all the things that teenage girls talk about. I would go to her house on Saturday and wash her hair. Although her body was frail, her hair was healthy and thick and she wore it long, almost to her waist. Sharon loved the teenage music group known as the Monkees. She had every one of their albums and their pictures were plastered all over her bedroom walls. Our Saturdays were spent listening to music and reading teen magazines at Sharon’s house. Some days after school, I would walk Sharon to my house. I would buckle her in to her wheelchair and bring her up 3 flights of stairs to my bedroom, where we would hang out. She loved doing that. She would squeal with both fear and delight as we would climb the stairs to my room.

As time went on, Sharon had a few hospital stays. When she got sick with the flu or even a cold, it was a very serious thing for her. Her breathing was affected and a time or 2 she had a traech tube inserted. Her voice became weaker and her hands were no longer able to write, which had become her form of communication when she lost her ability to speak.

In 1969 we graduated from high school. Sharon was able to rise from her wheelchair and accept her diploma. That is the last time I saw her out of her wheelchair. I married that same year, and it wasn’t long after that Sharon went to live in an assisted care center. I would visit her there and sometimes she would cry when I left. The last time I saw Sharon alive, I had brought my 2 yr old son to visit her. She was no longer able to communicate and I knew it was only a matter of time before she would make her exit from this life.

All these years, I never really knew what her medical condition was. I thought she had cerebal palsy or a disorder like MS. It wasn’t until she had been gone for several years and her Mother paid me a visit that I learned what the crippling disease was  that took her life as a young adult: Fredericks Ataxia.

What is Fredericks Ataxia aka Friedreich Ataxia?

It is a rare inherited disorder which affects the nervous system. It is seen in approximately 1 to 2 persons per 100,000 people. Friedreich Ataxia is an abnormality of the motor and sensory nerve conduction system; it mainly involves the spinal cord with degeneration of the spinal cord tracts. The major symptoms include progressive  incoordination of limb movements which becomes worse over time, problems with speaking, jerky movements of the eye muscles, a decrease in reflexes, heart muscle disease and curvature of the spine.

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Medical literature states that these findings generally begin in middle childhood, often with trouble walking. Most patients are wheelchair bound by their mid 40’s and some patients have lived into their 70’s if there are no complications from heart disease or diabetes. There is no proven therapy that changes the neurological problems. Friedreich ataxia is inherited as an autosomal recessive disorder. It is due to the abnormality in a gene which is located on chromosome 9. It is inherited in the same manner as cystic fibrosis or sickle cell anemia. A person with Friedreich Ataxia has TWO abnormal genes and cannot produce the normal protein. One abnormal gene is inherited from the father, the other from their mother.

The parents of a person with the disease are carriers for the gene, but do not have the disease themselves because they have one normal gene which overshadows the affect of the abnormal gene. Any couple that has a child with Friedreich Ataxia has a 25% risk of having another affected child with any future pregnancy.

In the case of Sharon’s family, she was the first born of 4 children, and she was the only one affected with the disorder. It is hard to understand why one child is singled out. There is no explanation. Families who have someone with Friedreich Ataxia in their family may benefit from talking to a geneticist or a genetic counselor about the inheritance of the disease and genetic testing to learn what the risks and chances are of them producing a child with this crippling disease.

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