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FARAFARA Cure FA

Counting her Blessings: Islander lives with Friedreich's ataxia

With the start of the new year, it’s the perfect time to count your blessings. But if you’re having a hard time thinking of all the good things in your life, Daniel Island resident Bridget Downing is sure to give you some great inspiration. Bridget, a twenty-six year old Berkeley County school teacher, has Friedreich’s ataxia, a rare medical condition that not only makes it difficult for her to walk, but impossible for her to run, dance, or even jump for joy, activities that most of us take for granted. Yet Bridget may be one of the most positive, upbeat and high-energy people you will meet on the island—or anywhere for that matter. Despite her physical challenges she readily insists, “Life is really wonderful.”

Friedreich’s ataxia (FA) is a debilitating, life-shortening, degenerative neuro-muscular disorder, caused by a rare gene mutation that limits the production of a protein in the mitochondria—the energy-producing factories in our bodies. About one in 50,000 young people in the United States has FA—and many of them do not live to see middle age. Symptoms usually begin to manifest in a child between the ages of five and fifteen, and often include progressive loss of coordination and muscle strength in the arms and legs leading to incapacitation and, ultimately, full-time use of a wheelchair by the time the person is twenty years old. Other common symptoms are energy deprivation, slurred speech, vision impairment, hearing loss, aggressive scoliosis and diabetes mellitus.

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