“The Promise In Unraveling The Mysteries Of Rare Diseases” on NPR

June 19, 2013

Take a listen as NPR delves into the world of rare disease with this story.


This is TALK OF THE NATION. I’m Neal Conan in Washington. When Jeannie Peeper was born, she had 10 fingers, 10 toes, everything her parents expected, except her big toes were short and crooked. Later a bump appeared on the back of her head, then disappeared. Baby Jeannie couldn’t open her mouth as wide as her siblings, either.

When her parents took her to a doctor, she was diagnosed with a rare bone condition. A second skeleton would grow inside her body and eventually lock her into stillness. Doctors didn’t think she’d live to be a teenager and couldn’t do much besides suggesting Tylenol.

In a piece in The Atlantic, Carl Zimmer writes: Rare diseases frequently go undiagnosed or misdiagnosed for years. Once people do find out they suffer from a rare disease, many discover medicine can’t help them. Not only is there no drug to prescribe, but in many cases scientists have little idea of the underlying cause of the disease.

In Jeannie Peeper’s case, that’s changed. If you suffer from a rare disease, tell us what’s going on with the research into it today. Our phone number, 800-989-8255. Email us, [email protected]. You can also join the conversation on our website. Click on TALK OF THE NATION.

Later in the program, recovering child actor Mara Wilson on the perils of fame, wealth and adulation. But we begin with Carl Zimmer, a science writer for the New York Times and a contributing editor at Discover magazine. His piece, “The Girl Who Turned to Bone,” is in The Atlantic magazine this month. He joins us from a studio at Yale University. And nice to have you back on TALK OF THE NATION.

Read more at TALK OF THE NATION.

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