Diagnosis stories are not neat and tidy, even if the diagnosis itself makes a lot of sense. Diagnosis is one answer, but it’s not always comforting. And the meaning it has for different people, even different members of the same family, can be mixed.
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“When Emily got sick, I was confused,” Jim Brackett said. His daughter Emily suddenly started falling after driving or playing in the yard when she was five years old. At first he and Emily’s mother, Beth, thought it was severe motion sickness. But soon Emily had a stomach ache and a headache. Her face looked like it was tilted to one side, and she was struggling for balance. One day, he screamed from a headache, and his parents took him to the hospital. But the doctors couldn’t figure out what was wrong with her – it wasn’t an infection or a diagnosis like cancer. Emily saw many doctors and got few answers. “I was a worrier, but this experience took that out of me because you can’t work as a worrier,” Jim said.
Jim learned how to isolate his emotions in order to survive the uncertainty of his daughter’s illness. “I got better and better at blocking out emotions and just taking facts and information and trying to analyze it,” he said.
In 2015, when Emily was ten years old, she was accepted into the Undiagnosed Illness Program. Her parents sought a diagnosis for five years before arriving at the NIH, where the team found her diagnosis in just a few months.
Sometimes the journey to diagnosis is so emotionally overwhelming that people stop trying for long periods of time or even completely.
When Jim learned that the NIH was willing to share Emily’s diagnosis with the family, he didn’t react the way he expected. “I had anxiety before the diagnosis,” he said. “You learn to live with uncertainty, and you can go out there and learn that she has two years left in her life and there’s nothing we can do.” Beth felt something different. “Knowing is better than not knowing,” she said. “Because we don’t know how the disease progresses, or what the end point will be.”
Emily was diagnosed with a form of hemophagocytic lymphohistiocytosis, or HLH, a rare condition in which some of her white blood cells build up and damage her organs. While Beth finally felt comfortable with the diagnosis, Jim had little emotional reaction at the time. The numbness remained even when he was told that his daughter’s condition would improve with a stem cell transplant – his terminal prognosis could be feared.
“I didn’t really feel that happy or relieved or uncomfortable or extra anxious,” he recalled. “You get a new set of terms for the process.”
He began to think about the risks of the transplant and tried to prepare himself for the possibility that it could go horribly wrong. It wasn’t until about a year after his daughter’s transplant was deemed a success and many of her symptoms subsided that he felt positive again.
Sometimes the journey to diagnosis is so emotionally overwhelming that people stop trying for long periods of time or even completely. Camilo Toro, the neurologist who diagnosed Mark Huppert, said UDP often sees patients who are in their thirties but have had symptoms since childhood. “Their parents chased everything under the sun to find a diagnosis and eventually they burn out and say, ‘Well, it’s not going to happen. We’re not going to get a diagnosis and we’re not going to know,'” he explained.
But families often decide to start the process again years later when the diagnosis has new meaning. “The big motivation is siblings,” Dr. Toro said, “and these siblings are at an age when they’re thinking about having their own children, and families want to understand any medical risks for their future children or grandchildren.”
If the health problem is completely random and isolated, meaning the rest of the family is safe from danger, the news can be comforting, if complicated. “It’s a bittersweet experience because it’s terrible news for the patient, but it’s great news for the family,” Dr. Toro said. “It gives peace of mind to know that the risk of relapse is low for a new family and can be more defined.”
If the risk is too high, knowledge can still be useful. Families can make decisions for their future based on facts and not just fear. Two common reasons parents want a diagnosis for their child are to help with care and treatment and to know what the future holds. Without a diagnosis, people are unsure of how the condition may progress over time, and this can be a major source of anxiety for patients and their families. Having a diagnosis also helps patients and families identify others with their condition, and rely on each other for support or advocacy.
If a patient’s doctor can’t name their illness, then everyone in the patient’s life, including insurance and disability providers, as well as their friends and family, may think that one doesn’t exist.
Fatima remembers the first time she knew something wasn’t right: she was 23 and running to catch the train, but her body didn’t seem to be in a hurry. After a long time, she started going up and down regularly. The physicist and theoretical researcher continued to experience symptoms in her body that seemed unable to stay with her, undiagnosed for years. After defending her master’s thesis, she found herself in bed, unable to bring herself to move. Something was clearly wrong with her muscles, but she was also deeply frustrated by the lack of answers, wondering what her future might look like.
When she was finally diagnosed with GNE myopathy, a progressive muscle-wasting disease, she felt relieved despite the seriousness of the diagnosis. “Somehow it was a relief,” she said. “I finally had a diagnosis. The diagnosis made me stronger.”
The American medical system relies on diagnostic codes. These codes are what support the medical necessity for the services rendered and explain why the given treatment was performed. If patients do not have a clear diagnosis and code, health care payers may deny them coverage and deem further testing and treatment unnecessary. Even if patients or a small group of medical professionals have come together around a possible definition of a shared disease experience, they need institutional approval to contribute.
In addition to being denied acceptance in the medical system, not having a diagnosis makes it difficult for a person to claim an illness. If a patient’s doctor can’t name their illness, then everyone in the patient’s life, including insurance and disability providers, as well as their friends and family, may think that one doesn’t exist. “I just want permission to be sick,” one woman told Sarah Nettleton, a medical sociologist in the UK, as part of her 2006 study of medically uncertain symptoms.
Other participants told Nettleton that they were afraid if they weren’t seen to be trying to get better, people would question whether they were really sick. “It is difficult to convince other people; they are very unbelieving because there are no obvious symptoms or names of the disease.” A 53-year-old woman named Angela who was working with symptoms including lack of coordination, inability to swallow, headaches and memory loss.
Others in the study are concerned with being called “fraudulent”, “hysterical”, “fake” or “hypochondriac”. Without a medical diagnosis, some patients internalized doubt and told Nettleton that there were points when they privately wondered if they were experiencing something real: “There’s a hidden fear—in the dark that I’m going to fake it,” said one participant. “It’s a horrible moment, a really bad moment, to give up completely when the tests show nothing. The despair.”
Research suggests that patients without a diagnosis fear they won’t be believed. In 2019, Chari Thompson, a professor at the University of Illinois at Urbana-Champaign and an author, interviewed 32 people about their experiences with family members who made them cry wolf about health issues by lying or exaggerating their symptoms. One woman in the study said she thought her mother was ignoring diabetes claims. “I think he wants attention, and he wants control,” she said. “I don’t think she has much control in her relationship with my father.”
When there is a lack of recognition or apparent doubt that the symptoms of a disease are real, diagnosable diseases, there is a good opportunity for people in these communities to seek validation elsewhere. This could mean they are more vulnerable to fraud or exploitation. People with undiagnosed illnesses can be easy targets for treatments that don’t actually treat the underlying medical problems and can put their health at risk. Poor experiences with mainstream drugs can make it more likely that people will try treatments with little science behind them, sometimes with dangerous results.
For example, colloidal silver, once used for wound healing before antibiotics, was available and sometimes marketed as a treatment for chronic Lyme disease, although silver can accumulate in tissues and cause serious side effects. Both the Food and Drug Administration and the Federal Trade Commission have gone after companies making false claims about the supplement as a treatment for Covid-19.
But even people with conditions that aren’t particularly rare can find themselves facing medical suspicion. While the diagnostic odyssey may seem like something reserved for unusual or rare conditions, many people with more common illnesses also face long periods without an answer. The long journey to diagnosis doesn’t always start with something complicated. Sometimes it starts with something so ordinary that no one takes it seriously.
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from Awesome body By Alexandra Seferlein, published by Viking, an imprint of Penguin Publishing Group, a division of Penguin Random House, LLC. Copyright © 2026 by Alexandra Sefferlin.
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