Rare Disease Day 2022: Hope in Focus Promotes Rare Disease Advisory Council

Rare Disease Day 2022 kicked off today as people gathered across the country, including us here at Hope in Focus, to raise awareness and generate research for treatments and cures for rare diseases, including Leber congenital amaurosis and other rare inherited retinal diseases.

Hope in Focus joined more than 30 advocates gathered for a virtual celebration of Connecticut’s Rare Disease Day. The day, officially acknowledged annually on the last day of February, is celebrated nationally and globally as a concerted effort to raise awareness, to grant access to medications, therapies, and state services, and to encourage research on the more than 7,000 rare diseases.

The Rare Action Network (RAN) of the National Organization for Rare Disorders (NORD) organized Connecticut’s Rare Disease Day activities, the highlight of which was to inform the state legislature of the vital importance of establishing a Connecticut Rare Disease Advisory Committee (RDAC).

Courtney Assad, Hope in Focus Director of Outreach and Development, presented a statement from our organization in support of and RDAC, telling the group that research and investment paid off immeasurably with the development by Spark Therapeutics of LUXTURNA®.

“LCA patients treated with LUXTURNA® experienced dramatic changes in their lives with greatly improved or restored vision,” she said in the statement. “Five, 6, 7-year-old children treated with LUXTURNA® view life in a new light in big and little ways. They can now see rainbows arcing in the sky and stars shining at night.”

One in 33,000 people are affected by LCA, which represents 5 percent of all retinal dystrophies.

More than 20 states have established such councils and RAN is working toward creating a group for each state. This year, Connecticut’s attempt to establish an RDAC has move farther along than any of the efforts that began in 2015. A task force met a dozen times between 2017 and 2019, but a paper reporting the group’s recommendations never made it to the Public Health Committee of the Connecticut General Assembly.

RAN and NORD drafted legislation referred to as House Bill 5260 and called “An Act Establishing a Rare Disease Council.” We received great news that that the legislation was formally introduced and has been referred to the Joint Committee on Public Health. A public hearing is expected to be scheduled to hear testimony supporting the proposed legislation.

The council would advise and make recommendations to the Department of Public Health and other state agencies, regarding the needs of people in the state living with a rare disease and their caregivers.

It would consult with rare disease experts, develop policy recommendations for improving access to quality medical care, affordable and comprehensive insurance coverage, medications, medically necessary diagnostics, timely treatment, and other necessary services and therapies.

The RDAC also would perform a host of other functions in support of the 250,000 to 300,000 people living with rare disease in Connecticut. You can view the text of the legislation here.*

Rare disease affects more than 25 million Americans. This equates to 1 in 10 Americans, or one on every elevator and four on every bus, according to the National Institutes of Health (NIH). More than 300 million people worldwide live with a rare disease.

Thirteen members would make up the group that includes the commissioners of public health, social services and insurance or their respective designees

A hospital representative and a physician licensed in medical genetics would be appointed by the governor.

Other members would represent patient advocacy groups, family members or caregivers of a pediatric patient living with a rare disease, a caregiver of a child or adult living with a rare disease, an adult living with a rare disease, a rare disease scientist, a rare diseases physician, and a member of the biopharmaceutical industry.

Kristen Angell, NORD Associate Director of Advocacy, and Lesley Bennett, Volunteer State Ambassador for Connecticut’s RAN, organized the event.

Connecticut’s Lt. Gov. Susan Bysiewicz opened the session saying never doubt the power of advocacy and passionate volunteers that have extensively lobbied her and many others in the statehouse to create a RDAC.

“I have a lot of hope. I know my colleagues in the legislature are people of great compassion who will be working for you.”

U.S. Sen. Richard Blumenthal also offered a statement on the event: “This Rare Disease Day, I’m proud to join the National Organization for Rare Disorders as we renew our commitment to supporting patients, families, and essential caregivers. With robust federal investment, we can and will spur innovation of research, treatments, and cures for those living with rare diseases – saving countless lives in Connecticut and across the country.”

More than a dozen people – advocates, caregivers, patients, doctors, and businesspeople – shared their stories. Many of them are parents of children  living with rare diseases, such as rare muscle disorders, rare pediatric cancers, rare genetic disorders, and other diseases that often are described as pediatric Alzheimer’s and juvenile ALS (amyotrophic lateral sclerosis, known as Lou Gehrig’s disease.

Connecticut State Rep. Mitch Bolinsky, one of the legislators in on the meeting, said, “WOW! What an incredible group of advocates. You got us to the finish line and now we just have to get ourselves over it.”