Faces of Rare Disease: Friedreich's Ataxia

Faces of Rare Disease: Friedreich's Ataxia
Updated: Mar. 27, 2013 at 10:45 AM CDT
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A brother and sister duo in Sulphur is speaking out about a disease threatening their lives - a disease with no cure and no medication to treat it.

Childhood pictures of Sam and Sydni Dupre paint a picture of a life that once was - carefree, mobile and unaffected by a disease that would rock them to the core. "We are on our own with this disease," said their mother, Katie. "The doctors don't know what to do. We're just on our own."

Katie and Shelby Dupre have scoured all of the information they can get their hands on for Friedreich's Ataxia, a debilitating, life-shortening, neuro-muscular disorder. "The doctor wrote it down on a piece of paper and told me I could research it," said Katie, "that's what I did."

The first to be diagnosed was Sam, eight years ago at age 10. "I had fatigue," he said, "if I walked a long way or ran. It was also the balance."

It would be five more years until little sister, Sydni, started experiencing the same loss of coordination. "It was getting harder to walk," she said, "I would fall a lot, starting about 3rd or 4th grade."

Friedreich's Ataxia affects one in 50,000 people with the onset of symptoms typically between ages five and 15. By the early 20s, most with FA become wheelchair-dependent because of the gene mutation limiting the production of an energy-related protein.  "How do you tell your child that?" said Katie, "we couldn't. To this day I don't know if we've told them everything."

Most of the time, carriers have no idea that they have an abnormal gene until their child is diagnosed. When both parents are carriers, each of their children has a 25 percent chance of having Friedreich's Ataxia and a 50 percent chance of being a carrier. "My oldest daughter has not been tested," said Katie, "she has not shown any signs of it, so we're keeping our fingers crossed that she'll be free of it."

The fears are real for these teens that do not know what the future will hold. "I'm mostly concerned about my sister's future," said Sam, "and hopefully they can work out something so that she won't be the same way I am right now."

DNA tests are needed to confirm the diagnosis. The disease only affects the body, not the mind, so Sam and Sydni have dreams just like any other teens. They have been selected by the Make a Wish Foundation to have a dream granted.

Sydni wants to go to Hawaii with her family this summer and Sam is hoping to have his truck become handicap-accessible.

Copyright KPLC 2013. All rights reserved.