Ep 13: Jori Eidem's family journey with the rare disease MLD

The Brain Coach

Today's guest Jori Eidem, a physician assistant from Rochester, MN, discusses her family's personal journey navigating a serious and life-threatening condition called Metachromatic Leukodystrophy or MLD.

Jori shares the story of her niece Amelia, an 8-year-old who played soccer, dressed up as a princess, and collected unicorns. Amelia was bright, funny and with the right amount of sass. She did well in school, despite her left-handedness. Until she didn’t. In 2021, when Amelia began falling behind academically and began having staring spells, she was screened for ADHD and Autism.

A few months passed and she started having trouble with coordination and by the end of the school year, she had rapid deterioration of motor and cognitive function. Amelia was evaluated at a major medical center where an MRI revealed a typical pattern for MLD, a diagnosis later confirmed by genetic testing.

This rare, hereditary condition is passed through a recessive gene and can appear in infancy, childhood, or adulthood. The incidence of MLD ranges, with estimates anywhere from 1 in 40,000 births to 1 is 160,000 births.

You can learn more about the disease at the MLD Foundation. Jori shares Amelia's journey and the Go Fund Me page the family established to provide updates on Amelia's progress. You can get in touch with Jori here: [e-mail] or [e-mail]

And finally, the link to the article mentioned in the show: Staring Spells: When It's More Than Daydreaming | Johns Hopkins Medicine

Please note: Amelia's parents are fully aware of this podcast. They want to spread the word about MLD since it is so rare and difficult to diagnose. It is so rare, in fact, that it doesn't receive funding for research for therapies, and the family has started a small foundation for those in need of information.

This podcast does not provide medical advice. The information, images and other materials contained are for informational purposes only. No information discussed is a substitute for professional medical advice, diagnosis or treatment. Please seek help from your physician for medical questions or advice.