Health Check: World Rare Disease Awareness Day - News, Weather and Classifieds for Southern New England

Health Check: World Rare Disease Awareness Day

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Walking is a milestone for 2-and-a-half-year-old Dustyn Schifino.

Dustyn was born with a rare disease called glutaric acidemia type 1, also known as GA1. He's the only one in Rhode Island with this genetic disease.

He can't break down two amino acids: lysine and tryptophan.

"Which is found in pretty much all your foods that you eat and in your natural protein in your muscles," said Katie Schifino, Dustyn's mother.

Dustyn eats very little by mouth.

"It's very important that we catch illness right away because the muscles break down which feed the body and then we can't measure out how much lysine is in his body," Schifino said.

Then there's Patricia Weltin. Her 16-year-old daughter, Olivia, has a rare disease known as hypomelanosis of Ito. It affects her skin pigmentation and her joints.

"She's had a total of 16 surgeries," Weltin said. "No one knows enough about HI to know what her future is."

That's why Weltin started the Rhode Island Rare Disease Foundation. The national numbers tell the story.

"Thirty million Americans have a rare disease. That's one in 10 … There are 7,000 different rare diseases -- and that's the ones they know about," Weltin said.

While symptoms may differ, the stories of frustration and isolation are the same.

"Katie and I, I could talk to her about what's going on with me and she gets it," Weltin said.

Thursday is World Rare Disease Awareness Day

"For me, it's about raising awareness. But it's also about unifying the rare disease community, getting everybody together, and it's about hope," Weltin said.

In Southern New England, they're coming together from 6 to 10 p.m. Thursday at the Crowne Plaza in Warwick. Anyone is invited. The cost of $5 includes food and entertainment.

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