Wow! How? Mystery vs. Moms

When her daughter, Sara, transformed from an active teen to a nearly catatonic shell of a person, Eileen Quinn knew she had to take action. Unfortunately, since Sara lives with Down syndrome her symptoms were likely to be dismissed as sad but inevitable. But Quinn had a hunch that her daughter’s rapid decline was not early-onset Alzheimer’s disease, nor was it late-onset autism (two diagnoses often given to people with Down syndrome).

Their story was recently captured by Richard Sima in The Washington Post: “A mystery illness stole their kids’ personalities. These moms fought for answers.” Here’s a gift link to the full story, which fits beautifully into the model of caregiver- and patient-led innovation that I introduce in my book, Rebel Health.

As a parent who was already active in the Down syndrome community, Quinn used social platforms to alert other families to the worrying symptoms. As a medical professional, she gave speeches and wrote papers to raise awareness among clinicians and researchers. Quinn stepped into her power as a Seeker and a Networker.

Soon, a Champion emerged, someone with access to mainstream resources who looked into the questions being raised by parents. Jonathan Santoro, director of the neuroimmunology program at Children’s Hospital Los Angeles, made the connection between the prevalence of autoimmune disorders among people with Down syndrome and this mysterious loss of function. He was able to identify signs that a patient’s overactive immune system was causing brain inflammation. Symptoms improved dramatically in many patients after standard immunotherapy reset their systems.

In 2022, Santoro led an initiative to define the condition as Down Syndrome Regression Disorder (DSRD) He says that bias against people with intellectual disabilities likely played a role in the delayed response to this community of sufferers. DSRD is an example of a medical mystery that was invisible to mainstream health care and people’s needs were not being met.

Thanks to Networkers like Eileen Quinn and her fellow parents, clinicians started investigating their children’s symptoms and, eventually, found treatments that work. When people are able to connect peer-to-peer, they trade ideas and borrow courage, pulling themselves and their communities out of isolation and toward answers. DSRD is one medical mystery that was no match for these moms.

Where have you seen examples of health conditions or challenges that are invisible to mainstream health care? What examples can you share of Seekers, who don’t give up their search for answers, or Networkers, who pool resources and learn in community? Comments are open.