Connecticut has established a permanent Rare Disease Advisory Council, joining other states that have created similar councils to serve as a resource for those living with diseases for which there is little information and treatment. 

In May, Gov. Ned Lamont signed House Bill 5500 into law (PA 22-58), creating the 13-member council three years after a previous, temporary rare disease task force concluded its work. 

State Rep. Jonathan Steinberg, who chairs the legislature’s Public Health Committee, said the previous working group deserves a lot of the credit for recommending a permanent board, pointing out the particular determination of Lesley Bennett, Volunteer State Ambassador for the Connecticut Rare Action Network.

“Having a permanent entity gives them a little bit of status and makes it easier to pursue their agenda,” Steinberg said. “They pushed very hard for several years to give them permanent status. We had to agree they deserve that opportunity.”

Advocating for those who have diseases for which there is little to no information is challenging, given that medical professionals may see a person’s symptoms and diagnose him/her with something more common, Steinberg said. 

A total of 23 states have signed legislation into law – nine states since 2021 alone – creating a Rare Disease Advisory Council, according to the National Organization for Rare Disorders (NORD).

Giving rare disease patients a voice

Heidi Ross, Vice President, Policy & Regulatory Affairs at NORD, said these councils give patients a unified voice in state government and an advisory body to government leaders. Councils in different states may have varied responsibilities, she said.

“Some of the ways that existing RDACs are making an impact is through conducting surveys to better understand barriers rare disease patients, providers, or caregivers face, consulting with experts to improve access to health care services and quality of care, and uplifting rare disease resources available in the state,” Ross said.

“The recently established Connecticut RDAC will be tasked with improving the continuity of care for patients living with a rare disease who are transitioning from pediatric to adult health care services, making recommendations for support and training resources for caregivers and health care providers of individuals living with a rare disease, and developing policy recommendations regarding safeguards against discrimination and other practices that limit access to appropriate health care services for rare disease patients.”

Patients, physicians, caregivers, hospitals, patient advocates, the biopharmaceutical industry will all be represented on the council.

State Rep. William Petit, who is a ranking member of the Public Health Committee, said a big issue facing people who have a rare disease is the pharmaceutical costs, which he hopes the council will be able to research and make recommendations to handle.

Petit said the legislation establishing a council has taken a few years – with the COVID 19 pandemic putting a strain on DPH personnel – and that the council will begin its work with little funding attached to it.

“It’s a compromise.  You have to start somewhere,” he said.

Spotlight on rare disease helps

Roseanne Smyle, staff writer at Hope In Focus – a nonprofit advocacy group for those affected by blindness caused by rare inherited retinal diseases – said patients and their families need to garner public awareness to get the support they need to push for more research and treatments. 

“Hope In Focus kind of started the same way. You’ve got a rare disease. No one knows about it, they don’t know how to pronounce it, how to spell it,” Smyle said.

Hope In Focus was founded in 2014 – under the original name Sofia Sees Hope – by Laura Manfre of Ledyard, whose daughter Sofia was diagnosed with Leber congenital amaurosis, a rare genetic retinal condition characterized by severe vision loss at birth that can lead to total blindness. Sofia underwent years of genetic testing, and then finally received a genetic diagnosis in 2012. 

In 2013, Sofia’s family worked with other families to raise money to develop a cure for blindness caused by Sofia’s gene, raising $47,000.

Since Hope In Focus formed in 2014, it has been advocating for adults and children who are battling LCA and other inherited retinal diseases, contributing more than $450,000 since 2015 to fund research into treatments for LCA and to provide free genetic testing for families.   

Smyle said the Rare Disease Advisory Council will provide a place for people to go when they need help – with issues such as insurance and securing access to treatments approved by the Food and Drug Administration – and then advocate for them before the state legislature. 

“That’s how things get done and get funded. When you go and make some noise about it and let people know so they can do their best to improve people’s lives,” Smyle said.

The law officially establishes the council on or before July 1, 2023, with appointments being made no later than October 31, 2023. The first meeting of the council has to occur by Nov. 30, 2023. 

Steinberg said – while he hopes that the appointments to the council are made in a timely fashion – that Bennett and others will not rest. 

“They are not going to let this thing slog into obscurity,” he said.