Nora Johnsen, a disabilities right advocate, will be among those taking part in a World Rare Disease Day observance from1-4 p.m. on Friday, Feb. 27, in the Center for Medicine, Nursing and Health Sciences at Quinnipiac University, 370 Bassett Road, North Haven.
The Frank H. Netter MD School of Medicine at Quinnipiac University will host the program, “The Transition: Becoming an Adult with a Rare Disease,” from 1-4 p.m. on Friday, Feb. 27, in the auditorium at the Center for Medicine, Nursing and Health Sciences on the North Haven Campus, 370 Bassett Road.
The program is being held to mark World Rare Disease Day, an annual observance to raise awareness of rare diseases and improve access to treatments and medical representation for individuals with rare diseases and their families. On this day, various activities take place in the United States, Europe, Russia, Japan and elsewhere around the world.
This inaugural World Rare Disease Program at Quinnipiac has been developed and implemented by medical school students. The program’s theme builds on the existing faculty and student commitment to improving the lives of people with rare disorders through clinical research.
Nora Johnsen, a disabilities rights advocate who has Williams syndrome, a genetic condition that is present at birth and characterized by medical problems, including cardiovascular disease, developmental delays and learning disabilities, will perform her play, “I Dream a World,” where she describes what it was like to grow up longing for peer affection, dignity and equality. She will share her struggles, triumphs and dreams in hopes of raising awareness of the need for tolerance and inclusion of not just those with disabilities, but for all people. Heather Johnsen, who is Nora’s mom, also will be on hand.
In addition, Dr. Lynn Davidson, an assistant professor of pediatrics at the Albert Einstein College of Medicine and a nationally recognized expert on health care transitioning for youth with special needs, and Maya Doyle, assistant professor of social work at Quinnipiac and a rare disease researcher and advocate, will present on the process and challenges of the transition to adulthood and adult-oriented care.
A short-documentary, “Growing Up With XLH,” which features the Putnam family who is affected by X-Linked Hypophosphatemia, a form of Vitamin D-resistant rickets, will be screened. Produced by Quinnipiac’s Information Services Department, the documentary received a 2014 Telly Award, which honors the best film and video productions, groundbreaking online video content, and outstanding local, regional and cable television commercials and programs.
The program also will include a panel discussion, along with patient and student stories. Other program participants include: Nicole Antaya, a Quinnipiac student with cystic fibrosis, a hereditary disorder affecting the exocrine glands; Emily Mello, who is living with cystinosis, a rare autosomal recessive metabolic disorder; and Dr. H. Andrew Selinger, chair of family medicine at the Frank H. Netter MD School of Medicine at Quinnipiac. Medical students, Cara Guardino, John Huston and Erika Parisi, also will share their experiences working with rare diseases as part of their research projects under their advisers, Carolyn Macica, assistant professor or medical sciences, and Barbara Pober, professor of medical sciences. Erin White, a medical student, will moderate the event.