Stanford University’s Ronald Davis is a giant in the field of genetics. He spent decades developing new ways to map and edit DNA, and he played a key role in the success of the Human Genome Project.
When Davis’ son was diagnosed with myalgic encephalomyelitis/chronic fatigue syndrome, or ME/CFS, solving the mystery of this poorly understood and often stigmatized disease became his new mission.
Whitney Dafoe, Davis’s son, first developed symptoms of ME/CFS in 2004. Over the next several years, his condition slowly deteriorated until he was unable to leave the house and then became bedridden. At his lowest point, Dafoe described his state as “being alive but dead at the same time,” in an article he wrote for the journal Healthcare in 2021 (1).
The biggest problem is that physicians have generally not been trained in the disease at all, even though it’s not a rare disease.
- Ronald Davis, Stanford University
Dafoe is far from alone in his battle with this disease. According to an Institute of Medicine report, as many as 2.5 million people may have ME/CFS in the United States alone (2). Yet this remains a rough estimate, as most people with ME/CFS are likely undiagnosed. There is currently no molecular diagnostic test available. Patients are diagnosed based on symptoms alone, which can be difficult for a variety of reasons. Symptoms can wax and wane over time and vary from patient to patient. Furthermore, dozens of other diseases, including lupus, rheumatoid arthritis, adrenal insufficiency, leukemia, and sleep apnea, can present with similar fatigue symptoms (3). However, said Davis, “the biggest problem is that physicians have generally not been trained in the disease at all, even though it’s not a rare disease.”
This is likely rooted in a long history of skepticism about the disease. “The lore has always been that it’s a psychosomatic disease,” said Davis. Even today, many patients feel that their doctors do not take their concerns seriously (4).
“This idea that if we don't understand an illness, it must be psychological, is really pervasive,” said Maureen Hanson, a Cornell University molecular biologist and ME/CFS researcher.
The diagnostic process is often a long and arduous one. As Dafoe wrote in Healthcare, he only secured a diagnosis “after seeing countless doctors and specialists in every area of medicine I could find… having blood drawn over and over again and literally hundreds of tests done.” Nearly one third of ME/CFS patients reported that it took them more than five years to be diagnosed (5). In addition to being stressful and expensive for patients, diagnostic delay also associates with a lower likelihood of recovery or improvement (6).
Now, a small but dedicated band of researchers is attempting to develop a diagnostic test for this disease by analyzing microRNAs, immune cells, extracellular vesicles, and more.
