Michelle Fruhschien

Rare Disease Health Leader Michelle Fruhschien Michelle here- aka Mamabear. My 3-year-old daughter, Hailey, was diagnosed at 8 months of age with a rare diagnosis, Jordan's syndrome, a random mutation of the gene PPP2R5D. At the time of her initial diagnosis, they were under 200 people globally with the same diagnosis.

Jordan syndrome affects individuals in various ways, but the most common symptoms include hypotonia, developmental delays, visual impairments, global delays, and seizures.

My job as an advocate started the moment my first child was born and I knew I would fight for them with my everything.

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