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Marley's family shares story during Rare Disease Week to raise awareness

Marley Berthoud
Rare Disease week Marley Berthoud
Posted at 5:39 AM, Feb 23, 2021
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.

They soon found out Marley had a gene mutation, but it wasn't linked to any kind of disorder. So more genetic testing was done, and they were finally given the diagnosis of Bachmann Bupp Syndrome when she was five years old.​

Marley started treatment with her medication a little over a year ago now, which is kind of unique because a lot of genetic mutations don't have treatments, and her mom Kelly says it’s already doing amazing things.​

"I think as parents we really have a certain intuition that there's answers, there's got to be answers," Kelly said. "And when you're in that dark place, it's easy to just blame yourself and to close everything off and just say, it is what it is. But I think finding that one person to listen to you and to help you seek answers, it can be a hard journey to find that person, but they're out there. And certainly don't give up on getting those answers and finding help."

For Rare Disease Week Calvin University, Michigan State University, and Spectrum Health Helen Devos Children's Hospital are hosting a virtual week-long event to unite families with caregivers and medical professionals. The virtual event is designed to help them understand and support those with Rare Diseases. The symposium will take place virtually through Saturday and is free to attend.

For more information click here.