HARTFORD, Conn. (WTNH) — Rare Disease Day will be marked across the globe Saturday, Feb. 29. Families came together at the Legislative Office Building Friday pushing for change and treatments to help those suffering from rare diseases.
Jean Kelley from Branford is all too familiar with rare diseases. Her son Brian was diagnosed with one at the age of 6. He’s now 31.
“My son has adrenoleukodystrophy (ALD).”
The rare genetic brain disorder was the centerpiece of the 1992 movie, “Lorenzo’s Oil.”
“He can’t see, he hears, he’s unable to eat. He’s totally dependent on his family and a few special caregivers,” Kelley said.
The Kelley family was part of a large group marking Rare Disease Day in Hartford Friday. The event brought together patients, healthcare providers, and lawmakers to shine the spotlight on countless diseases.
“We’re trying to tell them we’re here. We need help.”
According to the National Organization for Rare Disorders, a rare disease affects fewer than 200,000 people in the U.S. There are roughly 7,000 different types of these diseases, and 90-percent do not have an FDA approved treatment.
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“What happens at the state and health policy level is when they make decisions that, that a lot of time are well-intentioned but inadvertently hurt our population because we don’t fit in those neat little boxes we’re not the same as everybody else,” patient advocate Lesley Bennett said.
Last year, News 8 met Greta Stifel, who was pushing a rare disease bill in Connecticut. It passed and now allows medical professionals to take education courses that deal with screening and diagnosis of certain cancers.
For Stifel, it was personal. She’s been battling cancer herself after being misdiagnosed.
“In the end, it will win the war but I am victorious in every battle that I fight,” Stifel said.
Her husband told us she’s now in hospice, saying her final goodbyes after a courageous fight.
As for the Kelley family, they helped to pass legislation in 2013 that allows newborns to be screened for ALD, bringing awareness in a big way.
“We just wanted Brian to have a legacy so that he hasn’t suffered, you know, for no reason,” Kelley said.