Health Check: Rare Disease Day
There are more than 6,000 rare diseases that affect 60 million Americans.
"More people are affected with a rare disease than with cancer and AIDS combined, yet we get no funding," said Patty Weltin. "None."
Weltin's 17-year-old daughter, Olivia, was diagnosed with a rare disease when she was just 3 years old.
"Olivia's one of 100 reported cases in the United States. She has hypomelanosis of ito," Weltin said.
It affects her skin pigmentation and her joints. Her hands are disfigured as a result. So are her feet.
"I had about 17 surgeries, all different kinds," Olivia Weltin said.
And she may soon need reconstructive jaw surgery.
Then there's Bella, she's almost 8.
She has peroxisomal disorder, one of only two people who have her specific type of disease.
"So she has problems with all of her trunk muscles. She's got deformities with her feet and she's got issues with her hands. Her hearing is starting to go," Christine Cardi, Bella's mother, said. "There's no cure for it."
And with only two cases, there's no real understanding.
"You have to walk around daily, is today her last day? Is she going to be able to walk tomorrow?" Cardi said.
"We constantly live with the unknowns. We don't know," Patty Weltin said.
And that's why people with rare diseases in Southern New England and across the country are banding together. The last day of February has been designated as Rare Disease Day.
Weltin started rare disease foundations in Rhode Island and in Massachusetts. It's a non-disease-specific organization that believes there's power in numbers.
"I believe that we are all on the same journey, misdiagnosis, lack of treatment options, reimbursement issues and a huge problem is isolation," Weltin said.
"She is the happiest most amazing child you'll ever meet in your life. She has a hard time running, but she wants to run. She wants to jump. She is just very, very affectionate," Cardi said.
Bella's mom wants her daughter to have all the hope in the world.
As for Olivia, she plans to attend Providence College in the fall and pursue a degree in psychology and perhaps work with children with disabilities down the road.
But they and millions of others with rare diseases need support. There are events planned in Rhode Island and Massachusetts this weekend.