On Feb. 28, more than 30 countries across the world observed Rare Disease Day. Activities in the U.S. were spearheaded by the National Organization of Rare Disorders, with partners including the FDA, NIH and over 500 medical societies, patient organizations and pharmaceutical companies.
With such a major observance and powerful players, you'd think rare diseases were front and center in global and national interest. But the truth is that there's little knowledge about the diseases themselves, and even less knowledge about the people behind them.
Some basic facts: Rare disorders are defined by the Orphan Drug Act as conditions that affect fewer than 200,000 people in the US. Despite this seemingly low number, rare disorders affect one in 10 Americans, 80% of them children. The category includes cystic fibrosis, hemophilia, muscular dystrophy and all childhood cancers. Rare diseases are often difficult to diagnose, most have no cure and approximately 70% of treatments are prescribed off-label.
Now for some other facts: The rare disorders community is actually numerous communities dominated by mothers who are fighting for their children's lives. They are self-made experts on the diseases, often playing critical roles in obtaining correct diagnoses and appropriate treatment. They drive much of rare disease education and research. They are master networkers who form nontraditional relationships with healthcare professionals and third parties.
My main contribution to Rare Disease Day was a small book, Uncommon Challenges, Shared Journeys, a collection of 13 stories about families affected by rare diseases. The authors reveal their struggles along a common journey from the devastation of diagnosis to empowerment and advocacy for their children.
One of these mothers is Pat Furlong of Middleton, Ohio. She created a global online patient registry that led to a partnership with a biotech company, PTC Therapeutics. This, in turn, led to research to discover a new therapy for Duchenne Muscular Dystrophy, a rare disease that claimed the lives of both her sons. Pat's work and the foundation she created, Parent Project Muscular Dystrophy, inspired a profile in the New Yorker this past December. Her work led to a national project with Cadillac and a PSA by Green Bay linebacker Clay Matthews.
Another contributor to the book, Joan Bellontine of Floral Park, NY, created Grace For a Cure, a foundation that recently won a grant from the Pepsi Refresh Project to fund research into a treatment for children with a rare disorder called San Filippo Syndrome.
A third contributor, Jordana Holovach of Harrison, NY, founded Jacob's Cure, which has raised $4 million to fund research for Canavan Disease, a rare neurological disorder that causes progressive brain atrophy.
These are extraordinary women who are doing extraordinary things. And there are many more like them in the rare disorders communities. I understand the journey these mothers make because I, too, have a child with a rare disease.
The biopharmaceutical industry is showing increased interest in rare disorders, driven by advances in genomics and proteomics. I urge pharma marketers to better understand the people behind rare diseases so they can become trusted partners in these small and powerful communities.
Wendy White is president and founder of Siren Interactive