Even though the diagnosis itself has deep meaning, the story of the diagnosis is not a pretty story. A diagnosis is an answer, but it’s not always reassuring. And the meaning it has for different people and even different members of the same family can be mixed.
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“I was confused when Emily got sick,” Jim Brackett said. When his daughter Emily turned 5 years old, she suddenly started throwing up after riding in a car or spinning around in the yard. At first, he and Emily’s mother, Beth, thought it was severe motion sickness. But soon Emily began to suffer from regular stomach aches and headaches. Her face began to look tilted to one side and she was having trouble keeping her balance. One day, her parents took her to the hospital because she was screaming from a headache. But doctors couldn’t figure out what was wrong with her. It wasn’t a diagnosis like an infection or cancer. Emily went to multiple doctors but got few answers. “I used to be a worrier, but this experience took away that, because you can’t function as a worrier,” Jim said.
Jim learns to compartmentalize his emotions in order to survive in the face of uncertainty about what is afflicting his daughter. “I got better and better at turning off my emotions and just taking the facts and information and trying to parse it,” he said.
In 2015, at the age of 10, Emily was accepted into the Undiagnosed Disease Program. Her parents sought a diagnosis for five years before ending up at the NIH, where a team discovered her diagnosis within just a few months.
In some cases, the journey to diagnosis can be so emotionally excruciating that people may stop the effort for long periods of time or even completely.
When Jim learned that the NIH was ready to share Emily’s diagnosis with his family, he didn’t react the way he expected. “Before I was diagnosed, I was worried,” he says. “Learning to live with uncertainty allows you to go in there and know that she has two years left and there’s nothing we can do.” Beth felt a little different. “It’s much better to know than not,” she said. “Because we didn’t know how the disease would progress or what the end point would be.”
Emily was diagnosed with a type of hemophagocytic lymphohistiocytosis (HLH). This is a rare disease in which some white blood cells accumulate in organs and damage them. Although Beth was relieved to finally have a diagnosis, Jim showed little emotional reaction at that moment. Even when she was told her daughter’s condition would likely improve with a stem cell transplant, the numbness remained. His fear of a terminal diagnosis would be allayed.
“Actually, I didn’t feel that happy, relieved, unhappy, or unnecessarily anxious,” he recalled. “It gives you a new set of situations to handle.”
He started thinking about the risks of the transplant and tried to prepare for the possibility that it could go horribly wrong. It wasn’t until a full year later, after his daughter’s transplant was deemed a success and many of her symptoms had subsided, that he felt positive again.
In some cases, the journey to diagnosis can be so emotionally excruciating that people may stop the effort for long periods of time or even completely. Camilo Toro, the neurologist who diagnosed Marc Upert, said UDP often sees patients in their 30s who have had symptoms since they were infants. “Their parents pursued everything to find a diagnosis, but eventually they got burned out and said, ‘Okay, that’s not going to happen. There’s no diagnosis, there’s no way to know,'” he explained.
However, families often decide years later, when the diagnosis takes on new meaning, to start the process again. “Having siblings is the biggest motivator,” Dr. Toro said, noting that these siblings are at an age where they are considering having children of their own, and families want to understand the medical risks to future children and grandchildren.
If the health problem is completely random and isolated, meaning no other members of the family are at risk, the news can be complicated but reassuring. “It’s a bittersweet experience because in some ways it’s terrible news for the patient, but it’s great news for the family,” Dr. Toro said. “It is reassuring to know that the risk of recurrence for new family members is lower and more clearly defined.”
Even if the risk turns out to be very high, that knowledge can still be useful. Families can make decisions about their future based on facts, not just fear. Two common reasons parents want their children diagnosed are to help with care and treatment, and to learn about the future. Without a diagnosis, you won’t know how your symptoms will progress over time. This can be a source of great distress for both patients and their families. Receiving a diagnosis also helps patients and families find others with the same symptoms and lean on each other for support and advocacy.
If a patient’s doctor cannot name the illness, everyone in the patient’s life, including insurance companies, disability insurance providers, friends and family, may think there is no illness.
Fatemeh remembers the first time she realized something was wrong. She was 23 years old and running to catch the train, but her body didn’t want to rush. Shortly thereafter, she began tripping and falling regularly. A physicist and optical researcher, she continued to suffer from symptoms that her body couldn’t keep up with, and went undiagnosed for years. After she finished defending her master’s thesis, she found herself lying in bed and not having the energy to move. There was clearly something wrong with her muscles, but the lack of answers left her deeply depressed and wondering what her future held.
When she was eventually diagnosed with GNE myopathy, a progressive muscle wasting disease, she was relieved, despite the seriousness of the diagnosis. “For some reason, I felt safer that way,” she said. “I finally got the diagnosis. It made me stronger.”
The American medical system relies on diagnosis codes. These codes support the medical necessity of the services provided and explain why a particular treatment was performed. If a patient does not have a clear diagnosis and code, health care payers may deny coverage to the patient and determine that further testing or treatment is unnecessary. Even if a small group of patients and health professionals rally around a potential definition of a common disease experience, relief will require institutional approval.
In addition to being denied admission to the health care system, not having a diagnosis makes it difficult to claim that you are sick. If a patient’s doctor cannot name the illness, everyone in the patient’s life, including insurance companies, disability insurance providers, friends and family, may think there is no illness. “I just want permission to be sick,” one woman told British medical sociologist Sarah Nettleton as part of a 2006 study of people with medically unexplained symptoms.
Other participants told Nettleton they were worried that if they weren’t seen as trying to recover, people would question whether they were really sick. A 53-year-old woman named Angela, who suffered from symptoms such as loss of coordination, inability to swallow, headaches and memory loss, said: “It’s hard to convince others. There’s no visible signs, there’s no name for the disease, so there’s a lot of disbelief.”
Others in the study worried about being called “cheaters,” “hysterics,” “fake,” and “hypochondriacs.” Without a medical diagnosis, Nettleton told Nettleton, some patients internalize their doubts and privately wonder if they are experiencing something real. “There’s a fear lurking in the darkness that you’re making it up,” said one participant. “It’s a terrible moment. It’s a really disgusting moment. It’s complete despair when the test doesn’t show anything. It’s despair.”
Research shows that it’s natural for undiagnosed patients to worry that they won’t be believed. In 2019, co-author Charlie Thompson, a professor at the University of Illinois at Urbana-Champaign, interviewed 32 people about their experiences with family members who appeared to be fabricating or exaggerating symptoms and crying about health problems. One woman in the study said she thought claims of her mother’s diabetes were exaggerated. “I think she wants attention and control,” she says. “I don’t think she has much control over her relationship with my father.”
Lack of awareness or complete doubt as to whether a person’s illness symptoms represent a genuine, diagnosable illness creates a perfect opportunity for people in these communities to seek validation elsewhere. This can mean it is susceptible to fraud and abuse. People with undiagnosed illnesses may be more susceptible to treatments that don’t actually treat the cause of the medical problem and may put their health at risk. If you lack experience with mainstream medicine, you are more likely to try approaches that have little scientific support, and in some cases may have dangerous consequences.
For example, colloidal silver, once used to treat wounds before antibiotics, is now available and even sold as a treatment for chronic Lyme disease, even though silver can accumulate in tissues and cause serious side effects. The Food and Drug Administration and the Federal Trade Commission are both pursuing companies that have made misleading claims that the supplement is a treatment for COVID-19.
But even people without particularly rare illnesses may face medical questions. Diagnostic adventures may seem limited to unusual or rare symptoms, but many people with more common illnesses also face long periods of time without answers. The long road to diagnosis doesn’t have to start with complications. Sometimes it starts with something so mundane that no one takes seriously.
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from elusive body Written by Alexandra Sifferlin, published by Viking, a publisher of Penguin Publishing Group, a division of Penguin Random House, LLC. Copyright © 2026 by Alexandra Sifferlin.
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