A guest post from Robin Marantz Henig, a contributor for the New York Times Magazine (and Sam’s mom!):
The death two weeks ago of Summer Stiers, a young woman I met last year and
wrote about at length for the
New York Times Magazine
, made me think about how hard it was for her to get anyone to take her perplexing illness seriously. Whatever ailed Summer seemed to cause a wide range of symptoms, which is why nobody could quite figure out what was wrong with her. She bled from her intestines; her kidneys failed; she had chronic pain in her legs and back; she developed severe toxemia while pregnant and lost her baby; her bones were damaged; she had frequent mental blackouts attributed to seizures; she had lost one eye, and the retina in the other was damaged; she was profoundly fatigued; her hair was completely gray, even though she was only 31.
When Summer first made the rounds of physicians, beginning in her teens, she was often thought to be exaggerating. Some doctors thought she might have a relatively common but vague condition, the kind that is diagnosed in many young women, like chronic fatigue syndrome, fibromyalgia, or irritable bowel syndrome.
It took one astute physician from her home town of Bend, Ore., to realize that all of Summer’s complaints might be linked, and to put her in touch with the National Institutes of Health, which had recently created a program to study people with mysterious, undiagnosed diseases. The NIH scientists took Summer seriously, but even now, seven months after they first met her and took samples of her blood and skin to probe her DNA, they have no real idea what she had or why she died. They’re getting close, but it will probably take a long time still, and it will obviously be too late to help Summer.
Summer’s case is a reminder that lumping together too many disparate conditions into the same diagnostic grab-bag can be a serious mistake. Maybe a lot of the people (mostly women) who are diagnosed with chronic fatigue syndrome have completely idiosyncratic causes for their symptoms - Summer certainly did - and it’s wrong for scientists to insist on looking for the single unifying problem. If we’re to get anywhere in the age of genomic medicine, we have to get past the tendency toward glib diagnostic categories. It might turn out that most people with weird, often subjective (and therefore easy to dismiss) symptoms, like poor Summer Stiers, have unique problems that we have to dig deep into the genome to really understand.
Photograph by Getty Images.