“Alone we are rare… together we are strong”
– Kyle Bryant, Friedreich’s Ataxia Patient Advocate
On February 24, 2015, Connexion Healthcare’s Rare Disease Center of Excellence celebrated Rare Disease Day 2015 at the Pennsylvania State Capitol Building. The event, co-sponsored by Connexion Healthcare and the National Organization for Rare Disorders (NORD), and organized by Connexion team members with PA-based members of the Friedreich’s Ataxia Research Alliance (FARA), featured speakers and participants from numerous rare disease patient advocacy groups including FARA, physicians from the Children’s Hospital of Philadelphia and the Center for Rare Disease Therapy at Children’s Hospital of Pittsburgh of the University of Pittsburgh Medical Center, patients, families, rare disease–focused pharmaceutical companies, Connexion Healthcare, and Pennsylvania state legislators and their staff members.
Because the theme for this year’s Rare Disease Day was “Living with a Rare Disease,” the objective of the event was to raise awareness among state legislators regarding the 30 million Americans who have a rare disease (1 in 10 persons), two-thirds of whom are children, and to provide a glimpse into the daily life of these patients and their families in the Commonwealth of Pennsylvania.
During the event, industry speakers Susan Stein, MPH, CEO of Connexion Healthcare, and Matt Pauls, CEO of Cortendo, educated attendees on their roles in the orphan drug development and approval process. Of the 7000 known rare diseases, fewer than 400 currently have FDA-approved treatments. Dr. Kimberly Lin, a cardiologist from The Children’s Hospital of Philadelphia, helped attendees better understand the physician perspective on the diagnosis and treatment of rare diseases and on access to care for this patient population.
PA lawmakers in attendance made it clear that they are dedicated to working closely with patients and their families to raise awareness of and fight rare diseases in Pennsylvania. Legislative speakers included:
- Sen. Bob Mensch, R, 24th District, serving Berks, Bucks, and Montgomery counties
- Sen. Chuck McIlhinney, R, 10th District, serving Bucks County
- Rep. John Galloway, D, 140th District, serving Bucks County, and
- Rep. Angel Cruz, D, 180th District, serving Philadelphia County
Rep. Galloway spoke about his personal connection with the rare diseases Duchenne Muscular Dystrophy and Tay–Sachs disease and about his dedication to raising awareness of these deadly pediatric neurodegenerative disorders. Rep. Angel Cruz provided attendees with an overview of the recently passed legislation Hannah’s Law, requiring Pennsylvania hospitals to add 6 lysosomal-storage disorders to the list of conditions for which newborns must be screened:
- Krabbe disease
- Fabry disease
- Pompe disease
- Niemann-Pick disease
- Gaucher disease and
- Hurler syndrome
Scott Shirley, co-founder and executive director of Uplifting Athletes, a nonprofit foundation based in Pennsylvania that serves the rare disease community nationwide, helped motivate attendees on how they can make a difference in their own communities. Kyle Bryant, a patient with Friedreich’s ataxia representing FARA, shared with all attendees a moving look into his daily life and his mindset as a patient fighting a life-threatening rare disease, and showed the impact that a determined and dedicated patient advocate can have on disease awareness, fundraising, and research.
Attendees Jeff and Cathy Mitchell, who lost their son Harrison to Tay–Sachs disease in 2010, drove more than 3 hours from the Philadelphia area to share their own advocacy experience with other attendees, on the very day that would have been Harrison’s 11th birthday. Tay–Sachs is a rare pediatric neurodegenerative disease that affects fewer than 30 children in the United States per year, but which is always fatal.
Similar Rare Disease Day events were organized last week in more than 30 state capitols, but according to NORD, only one event had more preregistered participants than the event held in Pennsylvania by Connexion Healthcare, NORD, and FARA. The entire event was aired on the Pennsylvania Cable Network (PCN), and the local CBS affiliate, CBS 21, also covered the event.
Connecting rare disease advocates like Kyle Bryant and the Mitchells with other patients, families, physicians, and advocates, to learn from one another and to raise a united voice in their communities, is what Rare Disease Day is all about. Alone we are rare, together we are strong.