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Marley s family shares story during Rare Disease Week to raise awareness
and last updated 2021-02-23 06:05:30-05
GRAND RAPIDS, Mich. — Tuesday marks the start of Rare Disease Week, recognizing the nearly 30 million people in the U.S. who are affected by a rare disease.
Marley Berthoud of West Michigan was diagnosed with Bachmann Bupp syndrome. She was the very first human to be given that diagnosis, and since then there are now a few more people worldwide who have been given that diagnosis.​
Her mother Kelly had a normal pregnancy, but when Marley was born there were a lot of neurologic deficits that led doctors to take an MRI at her birth. That’s when they found a massive brain hemorrhage. After a year and a half, the family had been to multiple doctor appointments trying to find answers when they finally sought out a genetics consult. ....

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