Saving Grace: For Kathleen Gingerelli, 48, a diagnosis of Friedreich's ataxia finally explained her lifelong clumsiness.

Bolster, Mary

doi: 10.1097/01.NNN.0000490555.65244.b1
Departments: Pictures of You

For Kathleen Gingerelli, 48, a diagnosis of Friedreich's ataxia finally explained her lifelong clumsiness.

PHOTOGRAPH BY MARIUS BUGGE

For more information about ataxia, visit http://ataxia.org. To learn about Friedreich's ataxia, visit http://curefa.org.

Friedreich's ataxia, a degenerative neuromuscular disorder, usually appears in childhood, but you weren't diagnosed until you were an adult. How did that happen? I had symptoms my entire life. I was always very off-balance and could never walk in a straight line. Everybody just assumed I was a clumsy kid. In fact, my nickname was “The Klutz.” I had no family history of balance problems or anything neurologic. Nobody had ever heard of ataxia. My family just thought I wasn't paying attention to what I was doing.

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Did your “clumsiness” worsen over time? In high school, it got harder and harder to walk upstairs, and my school had no elevator. By the time I was in my 20s, it was impossible to walk upstairs without holding onto a banister.

Were you ever worried about these difficulties? I never thought anything was wrong. I was just clumsy. I also blamed it on scoliosis, which I was diagnosed with in sixth grade. I wore a back brace until my junior year in high school and couldn't participate in gym.

What got you thinking your balance and walking problems were something more serious? In 2000, I read an article about multiple sclerosis (MS), and everything the writer described was something I thought I had. After talking to my mother, I scheduled a visit with a neurologist. I ended up seeing several neurologists, but they only told me what I didn't have, including MS and Parkinson's disease.

How were you finally diagnosed? My mother and I worked at a doctor's office, and one day one of the doctors pulled my mother aside and told her my balance was getting worse. He was the first to suggest ataxia, and he gave me a few balance tests in the office. I didn't do well on any of them, so he sent me to a neurologist friend of his, who ordered blood work, among other tests. Everything came back positive for Friedreich's ataxia. That was in 2002.

How do you take care of yourself? I used to take Pilates, which helped with my balance. After about two years I hit a plateau, so my teacher suggested yoga. That was seven years ago, and I'm still doing it. I credit yoga for keeping me out of a wheelchair all these years.

You mentioned that your ataxia is a great source of entertainment. How so? I don't drink, so I am always the designated driver when I go out with friends. It's quite amusing to stumble off a bar stool and grab the keys and have the bartender look at my friends and say, “Should she be driving?”

© 2016 American Academy of Neurology