by Amanda Conschafter, blog editor
As Rare Disease Day nears, patients, their families and the organizations that represent them are fighting for greater awareness of the conditions they face. Patient stories and advocacy efforts remind us that, though sufferers of individual rare diseases are few, rare disease patients as a group continue to grow.
A rare disease by definition is one that affects fewer than 200,000 people. Yet more than 30 million Americans suffer from one of these diseases. And, statistics show, the burden of rare disease rests disproportionately with young patients. Nearly two-thirds of rare disease patients are children.
Families of children with rare diseases struggle to accommodate their children’s unique – and sometimes life-threatening – conditions. The New York Daily Newsrecently reported that a family in South Carolina has quarantined itself to protect daughter Eliza against neurological damage caused by Sanfilippo syndrome, a rare genetic disease. Their quarantine is designed to protect Eliza’s immune system until she can participate in a clinical trial through the Nationwide Children’s Hospital. The trial will provide her a new therapy that could restore enzyme activity in her central nervous system.
Eliza’s quest for treatment is not uncommon among rare disease patients. Of the nearly 7,000 rare diseases identified, less than one percent have an FDA-approved treatment available.
So as individuals and organizations gather at statehouses and public venues across the country this week, they urge not only heightened awareness but also more treatment options and better access for patients suffering from rare diseases. Hopeful that their efforts will spur progress, Rare Disease Day participants explain that “Alone we are rare. Together we are strong.”
