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Raising awareness about rare diseases

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Jonah Weishaar loves to play like any 3-year-old.

"He's asking more questions. You know, you're getting that fun, jokey time," mom Jill Wood said.

Nobody can tell by looking at him that this little boy is battling a rare, fatal disease that has no cure. He was diagnosed with Sanfilippo Syndrome two and half years ago.

"It's your absolute worst nightmare. I was shocked," Wood said.

The metabolic disease causes severe neurological damage that gets progressively worse. Eventually, Jonah will lose the ability to walk, talk and eat while his body shuts down.

"In the United States they are 18 children with Sanfilippo subtype C," Wood said. "Nobody has lived past the age of 30."

Jonah's parents and many other families are in Washington, D.C., this week trying to raise awareness for rare diseases. There are close to 7,000 rare diseases, affecting about 25 million Americans.

A disease is considered rare if it affects fewer than 200,000 people. Many rare diseases are genetic.

"Percent of these disorders probably have a genetic basis and nearly 50 percent occur in pediatric patients," said Dr. Stephen Groft of the Office of Rare Disease Research at NIH National Center for Advancing Translational Sciences.

A genetic mutation causes Sanfilippo Syndrome. Jonah's parents have started a foundation to raise money for research. They are optimistic scientists will find a cure.

"I'm hoping we can get Jonah in a clinical trial within three years," his mother said.

They're trying not only to save their own son, but also future generations.

Sanfilippo Syndrome is inherited as an autosomal recessive trait. That means both your parents must pass you the defective gene in order for you to get the disease.

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