Millions of people are affected by uncommon, unknown or undiagnosed diseases.
Some appear at birth, others emerge in adulthood. Many are genetic in origin and there is often scant information in the medical literature about them. It can take years to get an accurate diagnosis, which is too late for many patients. There are also few effective treatments much less cures for these diseases.
In this episode, we will meet a woman whose family has been dogged by a mysterious disease for generations, what it took to crack its genetic code and the search for a cure.
Guests: Lisa Miller and Mary Miller Kenney
Dr. Ernesto Ayala, a hematologist and oncologist in the Department of Internal Medicine at Mayo Clinic in Jacksonville, Florida. He specializes in stem cell transplantation.
Kerry Hughes, executive director of Harmony4Hope.
For more information on the great educational and advocacy work on rare diseases: https://harmony4hope.org/
For more information on the groundbreaking work bring on genomic medicine: https://www.mayo.edu/research/centers-programs/center-individualized-medicine
For more information on adult-onset leukoencephalopathy: https://sistershopefoundation.org/
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