Rare Disease : Episode 1

Episode 1 - Recognizing Rare Diseases in the United States

In a peer exchange moderated by Dr. Peter Salgo, Hugh Fatodu and Drs. Patrick F. Fogarty, Maria Lopes, and Michelle Petri share their insights on the evolving dynamics of rare diseases in contemporary healthcare and managed care, and specifically address the implications for hemophilia and systemic lupus erythematosus (SLE). In the US, a rare disease is defined as a condition that affects than 200,000 persons. However, despite the 25 million American lives currently affected by more than 7,000 identified rare diseases, the patient and provider communities are still plagued by a general lack of awareness, a high risk for misdiagnosis, and a scarcity of treatment options. There is an acknowledgement among the panelists that the early recognition of diseases such as hemophilia and SLE has “very significant” implications for therapy, perhaps life-changing and even life-saving.

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