Plans in the Works for Connecticut’s New Rare Disease Advisory Council and 2023 Rare Disease Day

Advocates for people living with rare diseases are collaborating with Connecticut Gov. Ned Lamont’s office and leaders of the Connecticut General Assembly’s Public Health Committee to build the state’s new Rare Disease Advisory Council (RDAC) that requires appointees, budgets, and bylaws be in place this summer.

Assistant Director of Advocacy for the National Organization for Rare Disorders (NORD) Kristin Angell joined Co-Ambassadors Katie Gillick and Lesley Bennett of NORD’s Connecticut Rare Action Network (CT-RAN) in hosting a Zoom conference with more than 30 people, including state legislators, patient advocates, doctors, researchers, industry leaders, health care providers, caregivers, and people living with rare disease.

The meeting included two representatives from Connecticut-based Hope in Focus and discussions about the range of needs to be addressed by the new council and the planning of next month’s celebration of Rare Disease Day on Feb. 28.

“We are working on it, and we will get it done,” Bennett said.

A rare disease is defined as one affecting fewer than 200,000 people nationwide. More than 7,000 known rare diseases affect an estimated one in 10 people in the United States, translating to about 30 million people or 10 percent of the country’s population. Globally, 300 million people live with rare diseases.

With the establishment of a permanent Connecticut RDAC, 13 members will be appointed to advise and make recommendations to the Department of Public Health, the Department of Social Services, and other state agencies about the needs of people living in Connecticut with a rare disease and their caregivers. Advisory councils may differ from state to state. Please click here to check whether your state has an RDAC or is working to establish one.

Hope in Focus, in its advocacy for people living with Leber congenital amaurosis (LCA) and other rare inherited retinal diseases (IRDs), helped generate awareness of the need for an RDAC and for the legislation to make it happen.

The cause of many rare diseases is unknown, but about 80 percent are genetic, such as LCA and other IRDs, and about half of all rare diseases affect children.

Getting state agencies to understand the rare disease population is key to the RDAC. Even something as simple as putting links to national rare disease resources on state government departments’ websites would be a big step.

More than 40 people submitted applications to become part of Connecticut’s council, and six have been appointed so far. The names of the new members will be announced when all 13 have been appointed.

The group will include insurance, public health, and social services commissioners, or their designees, and 10 members appointed by the Governor and the Public Health Committee leadership. Those 10 members will be:

• a representative of an association of hospitals or a hospital administrator, and a physician with expertise in medical genetics
• a representative of a patient advocacy group in the state representing all rare diseases, and a family member or caregiver of a pediatric patient living with a rare disease
• a representative of the biopharmaceutical industry involved in rare disease research and therapy development, and an adult living with a rare disease
• a member of the scientific community engaged in rare disease research, and a caregiver of a child or adult living with a rare disease
• a physician who treats people living with a rare disease, and a representative, family member, or caregiver of a person living with a rare disease

Planning for Rare Disease Day

Following the midterm elections and changes in some legislative seats at Connecticut’s General Assembly, educating lawmakers is key to finding solutions for people living with rare disease to have the necessary access, resources, and educational tools to enjoy their best quality of life.

One person attending the meeting talked about the need for more doctors and patient advocates in Connecticut because people living with rare disease often must travel to another state for medical care. She also mentioned the potential of patients being charged for sending simple questions to doctors through computer health care portals, and whether lawmakers attending upcoming Rare Disease Day events could help mitigate or eliminate those costs.

Please share any ideas to help raise awareness for Rare Disease Day and your thoughts on bringing Connecticut’s RDAC to fruition by getting in touch with Kristin Angell at kangell@rarediseases.org, Katie Gillick at katie.gillick@rareaction.org, or Lesley Bennett at lesley.bennett@rareaction.org.

NORD and CT-RAN plan another meeting later this month to discuss updates on the RDAC and Rare Disease Day.