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Link: Too Rare for Research? People with rare diseases often experience significant delays in diagnosis and access to few, if any, treatment options.

When Jon Soeby snipped his newborn son’s umbilical cord, baby CJ grunted. Astonished, the doctor joked that CJ was already trying to talk. But CJ’s parents felt something was wrong.

The article talks about CJ, a child born with a rare disease called hypothalamic hamartoma. Orphan diseases (affecting less than 200,000 Americans) can and often do experience long delays in diagnosis and treatement of their conditions. Treatment options are often few and far between, if there are any at all. A diagnosis may be years coming, if one comes at all. This is a terrifying reality for thousands of individuals around the world.

The full text can be found at Neurology Now in the April/May 2012 edition.


Copyright ©2012 American Academy of Neurology

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