Suzanne O’Sullivan, MD opens her new book, “The Age of Diagnosis: How Our Obsession with Medical Labels Is Making Us Sicker,” with a medical conundrum. It has no easy answers and presents life-altering ramifications.
One of her patients had been diagnosed with Huntington’s disease, an incurable degenerative brain condition. There was a 50 percent chance that her daughter, Valentina, who was in her late 20s and pregnant, would inherit it. Dr. O’Sullivan sat with Valentina, who put off being tested for years after learning about her mother’s condition.
A Diagnosis Doesn’t Always Help
Learning that a person might get a disease is like opening a door for an explanation, the potential for recovery and support, but “there are darker things behind that door too that are not always being given proper consideration.” Knowing that a disease lies in waiting may not be the best course of action, she contends.In the past, a diagnosis meant treatment, support, and a prognosis, but when a label is given to someone who shows no symptoms, what does that mean for their life and plans going forward?
Take, for example, the popularity of testing for the BRCA 1 and BRCA 2 gene variant (AKA “mutation”) to determine the risk factor of a woman developing breast cancer. It’s different than Huntington’s disease, which can be predicted. If there’s a family history of it, and the gene mutation is passed on to a child, that person will develop Huntington’s.
Changing The Definition of Being ‘Pre-Diabetic’
In the introduction, the author asserts that some types of early detection offer no benefit: Consider the case of diabetes. In the early 2000s, the numbers of patients considered pre-diabetic—the stage between normal glucose levels and the stage of the disease—were lowered by the American Diabetes Association. This decision redefined the parameters of normal glucose.
Many pre-diabetic patients have elevated fasting glucose levels, but the condition can be reversed with improved diet and exercise. Doctors believed that if patients were identified earlier, they could get the advice needed to avoid the onset of full-blown diabetes and the havoc it creates in the body.
That small change in the numbers classification pulled a lot of people into the pre-diabetic category overnight. But 20 years later, research shows the incidence of diabetes continues to grow. It’s unclear whether diagnosing a new population of pre-diabetics had any effect at all. Did this new diagnosis draw in milder cases, have them monitored, treated as if there was a medical issue?
Dr. O'Sullivan notes, “people regarded as pre-diabetic would never have developed diabetes if left undiagnosed, so for that group, the monitoring may never have been needed.” So, what was gained, she asks.
Over the course of six chapters, Dr. O’Sullivan covers a selection of diseases chosen because they “represent a different emerging theme in diagnosis.” She includes real stories of the people involved. One disease offers a genetic diagnosis to let patients know they are destined to develop it; another has touched many people’s lives; another one is on the rise; and another focuses on mental struggles that may at one time have been seen as normal, but “are being reframed as medical.”
The Search for Answers in Lyme, Connecticut
In addition to those diseases which can be definitively diagnosed, Dr. O’Sullivan focuses on the discovery and challenges of diagnosing Lyme Disease. The diagnosis involves complicated testing and many false positives.The history of Lyme began not too long ago. In the 1950s, a Connecticut woman began showing mysterious flu-like symptoms, rashes, aches, and pains. Her children suffered from similar complaints. For years, the family went back and forth from doctor to doctor, but no one could pinpoint the cause. Theory after theory was considered until the woman, performing her own research, compared her symptoms to the tick-borne disease Rocky Mountain Fever.
Her family’s community was deer country; ticks were regularly pulled off of children and pets. But it wasn’t until 1982 that researchers found the specific bacteria inside the tick that differed from that of Rocky Mountain Fever; rather than call the disease after the patient, they named it Lyme Disease, after the town in Connecticut where it was first uncovered.
To this day, there’s no definitive test to diagnose Lyme Disease; in addition, how labs test for it vary. The labs trust the doctors to determine the results. “But,” she writes, “many doctors don’t fully understand the test they’re ordering” and will err on the side of caution, and to avoid being accused of missing a diagnosis, will assume it’s a positive result.
The book brings up important issues for both the public and the medical community to consider. Have we become so impressed with technology that we haven’t weighed whether the benefits of early diagnosis outweigh the harm? Though a diagnosis may feel good in the moment, what is its lasting value? As in the case of Lyme disease, our need for a definitive list of symptoms and a definitive diagnosis has yet to be fulfilled.
