CT Rare Disease Day: Patients Must Be Advocates
On Rare Disease Day – Wednesday, February 28 – doctors, researchers, advocates, patients, caregivers, industry representatives and legislators will come together in Connecticut and around the globe to focus on the critical role patients play in understanding rare diseases and in developing innovative treatments and cures.
Research is the 2018 theme for Rare Disease Day, and this year’s slogan is “Patients are not only subjects but proactive actors in research.” Nearly 7,000 diseases are considered rare in the United States and about 300,000 people in Connecticut have a rare disease.
Hosted by the National Organization for Rare Disorders (NORD) and the NORD’s Connecticut Rare Action Network, Rare Disease Day will be celebrated on the last day of February from 8:30 to 10:30 a.m. in the 2nd Floor Atrium of the Legislative Office Building, 300 Capitol Ave., Hartford.
The event, held nationally and in more than 85 countries, serves as an opportunity to hear from the many voices of those dealing with rare diseases and the daily challenges patients and their families face in Connecticut.
NORD President Pete Saltonstall and a bi-partisan team of Connecticut General Assembly (CGA) members will open the event. The governor is expected to honor the day with an official proclamation.
Dr. Mridu Gulati, a pulmonary disorder specialist at Yale School of Medicine and chair of the CGA’s Task Force to Study Rare Diseases, will report on the group’s findings. The task force, created in 2015 under Public Act 15-242, comprises legislators, medical experts and rare disease advocates. It is charged with examining rare disease research, diagnoses, treatment and education. The group also makes recommendations for creating a permanent group of experts to advise Connecticut’s Department of Public Health on rare diseases.
Also, within the legislative session, Jean Kelley, whose son has X-linked Adrenoleukodystrophy, will give an update on ALD and newborn screening.
Speaking on behalf of research will be: Dr. Emily Germain-Lee of Connecticut Children’s Medical Center and University of Connecticut, Albright Syndrome; Stormy Chamberlain, Ph.D., of University of Connecticut, Angelman’s Syndrome and Prader Willi; and Dr. Thomas Carpenter of Yale, X-linked Hypophosphatemia.
Event organizer Lesley Bennett said discussion is open to other rare diseases, such as Leber congenital amaurosis and other rare inherited retinal diseases. Advocates could add their concerns in the patient-issues portion of the event, which includes legislators and rare disease patients.
A five-member business panel will help inform the CGA about patient organizations in our state, patient participation in clinical trials and helping to fund research to develop therapies for rare disorders.
Bennett is part of NORD’s Rare Action Network and she is Connecticut’s Volunteer State Ambassador. For more information, please email her at Lesley.bennett@rareaction.org