Via Community News Service, a University of Vermont journalism internship
For decades, Sarah Elliot lived with a rare disease without a clear diagnosis.
“I was misdiagnosed, and it took 25 years to meet with genetic specialists,” she told the Senate Committee on Health and Welfare on March 31.
She said it then took another 10 years, and being pregnant, to actually get tests covered by insurance and a clinical diagnosis.
Elliot, a Glover resident, has a form of diastrophic dysplasia, a rare genetic condition that affects cartilage and bones. She told lawmakers that the disorder has caused her to experience chronic pain, respiratory issues, fatigue and battles with mental health.
Her experience is one of many that inspired H.46, a bill that would create a Rare Disease Advisory Council within the Vermont Department of Health. The bill was passed by the House last year and revisited this session.
Under the bill, the council would gather public input, identify gaps in care, provide testimony on legislation and develop policy recommendations to improve diagnosis, treatment and services for people with rare diseases.
Rep. Anne Donahue, I-Washington-1, who introduced the bill last year, told the House Committee on Human Services that the proposal was years in the making. She said rare disease advocates were pushing for a council because most other states have one.
“I think it’s an important issue,” Donahue said last March. “I don’t think it’s a complicated or time consuming one for the committee to take up.”
During this year’s session, Rep. Rey Garofano, D-Chittenden-23, told senators to move the bill forward because it could positively impact the roughly 60,000 Vermonters who live with rare diseases.
“It’s a super simple bill with a lot of impact,” Garofano told the Senate Committee on Health and Welfare on March 25.
Vermont is the only state in New England that doesn’t have a Rare Disease Advisory Council.
Garofano said the council would give this community a stronger political voice by raising awareness about rare diseases and making recommendations to lawmakers.
Elliot, the Glover resident, told lawmakers that earlier diagnosis and better coordination could help families connect with specialists and care sooner, something that is “truly priceless.”
Vermont currently screens newborns for 35 different genetic conditions, she said, which is a relatively low number.
“That puts us low on the list, as many other states are testing for many more, even double this number,” she said.
While many expressed support for the H.46, some raised concerns about how much the Department of Health could realistically take on.
Ilisa Stalberg, the director of family and child health at the Department of Health, said the department supports the bill’s intent but would need to limit its role due to uncertainty around federal funding stability.
“The department needs to ensure its role would be limited to basic support,” Stalberg told the Senate Committee on Health and Welfare on March 31.
She said the department would be able to help with legal, technical and administrative assistance but added that staff wouldn’t be able to perform other tasks, such as research analysis.
Although lawmakers are continuing to discuss H.46, they agree that the need for establishing the council is clear.
“Expanding these offerings to the rare community will continue to make our state a place that is accessible, safe and welcoming,” Elliot said.
If passed, H.46 would take effect on July 1.