We need a national health policy that encourages medical schools and medical societies to focus on the diagnosis of rare diseases. There are approximately 6000 rare diseases, some of which have multiple genetic causes affecting up to 300 million people worldwide, including 30 million Americans. A recent study disclosed that it may take 7 years to secure a diagnosis, while being misdiagnosed and mistreated multiple times.
Why is this important?
I care for two grandchildren with rare diseases. The length of the diagnostic process is testimony to the lack of knowledge that exists within the field of medicine regarding rare disorders; the lack of a diagnosis is a major roadblock to identifying the number of people affected, the manner in which they are affected and ultimately stymies science that secures cures and treatments.
