“This is the story of how an individual with no medical background and limited funding channeled grief into action to help advance research in one of the rarest diseases on the planet. The disorder is called Erdheim-Chester disease (ECD). Only 500 cases exist in the medical literature. Kathy Brewer’s husband died of the disease. But it was only upon his death, when Brewer received his autopsy report, that she learned its name. Not one doctor came up with a diagnosis or effective treatment while he was living.. The disease is vicious and as yet, there is no cure. Tumors, sometimes one or two inches in diameter encase vital organs until they shut down. Brewer was determined to make a difference and raise awareness so no one else would suffer. She had no clue how to proceed until a doctor gave her the formula for success. “Patients plus money equals research,” he told her. So she mobilized patients. Today, 198 ECD patients from 33 countries are registered on her ECD Global Alliance site and living with the disease. An additional 46 are registered but deceased. That registry led to donations from patients and their families. So far she has raised $500,000. That’s a drop in the bucket compared to major disease groups. Still, Brewer, who takes no salary, has awarded a handful of research grants. Even more importantly, because of her work and an organized population of ECD patients, the National Institutes of Health is conducting the first study of its kind looking at the genetic components of the disease. Juvianee Estrada-Veras, who runs the NIH study credits Brewer with helping to prolong the lives of ECD patients because of her work networking with patients and scientists and clinical trials. As Estrada-Veras says of Brewer, “She wants everything to be done for the patient the best way possible. She fights for them. She worries for them. She is their voice.” The story illustrates that champions exist even when a disease is so rare that most of the world doesn’t care. Their stories show the best of humanity and deserve recognition.”
