Friedreich's ataxia is a degenerative neuro-muscular disorder. FA patients have a gene mutation that limits the production of a protein required for energy production in the body's cells. Symptoms include the loss of arm and leg coordination (ataxia), vision impairment, hearing loss, slurred speech, scoliosis, and heart conditions. There are currently no treatments for FA, only symptom management.
While many have never heard of Friedreich's ataxia, about one in 50,000 people in the United States have FA. The two Friedreich's patients I've known are my aunt Patti and my cousin Garrett. Today I'll introduce my dad's sister, Patti Timbie.
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| Patti and AT at Christmas, 1980 |
I grew up wildly jealous that Patti got to have horses in her backyard! This was my childhood dream. Patti loved all animals, and riding horses was a form of therapy and mobility for her as walking became difficult and finally impossible. My grandparents moved to Hamilton, Massachusetts when Patti was a teenager to have room for the horses, and her dogs, cats, pigmy goats, rabbits, ducks, and roosters.
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| Patti serving dinner in Hamilton, 1968 |
Patti passed away when I was in elementary school. I can remember going to visit her in Boston with my grandmother and step-grandfather, John. By then Patti couldn't speak, but she could see well enough to use a computer that slowly scrolled through a large alphabet. When the letter she wanted came up, she would select it by tapping a mechanical arm with her head, and slowly spell out what she wanted to say. And she could hear me respond if I came very close and spoke VERY loudly into her ear. This was hard work for young AT, but John said Patti really liked seeing my sister and I. And I believed him because really I liked John.
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| AT and CMT visiting Grandma T and John, 1987. Bunny-ears cracked us up. |
While the body deteriorates, the mental capabilities of Friedreich's patients remain completely unaffected. By the time I met Patti, her symptoms had progressed to a point where I could never really get to know her.
Next week, the backstory part 2, Garrett.
3 comments:
AT, I think you make a darn good blogger. What a touching story. I remember you talking about Patti when we were growing up and I am sure your and Clare's REALLY blonde and adorable presence made a world of difference.
KET, you're my blogging hero! I don't know how you do this every day!
Yeah...some days were a tad tough. But it's fun reading it after the fact!
And YOU'RE my hero. I ran six miles this weekend and almost passed out from exhaustion and hypothermia. I need a little AT in my heels.
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