Each year, 12 million people are misdiagnosed by doctors, according to the National Academy of Medicine, which can lead to further development of potentially life-threatening diseases and delay critical treatment. Last year, my husband was one of them.
In the course of about a week, he went to urgent care, a neurologist, a dentist, a primary care provider, an ophthalmologist and a second neurologist — all before being admitted to the emergency room and transferred to the intensive care unit.
Despite my husband describing pain in his jaw, back and legs, along with numbness in his feet, the first neurologist tested his reflexes and said he was fine. When his mouth began to droop, my husband knew that he wasn’t. He began researching his symptoms online. One of the potential causes he found was Guillain-Barré Syndrome (GBS), a rare neurological disorder in which the body’s immune system mistakenly attacks the nervous system.
So he sought out answers from a primary care provider, where he was misdiagnosed with Bell’s palsy and Epstein-Barr. After further testing from a second neurologist, all signs pointed to GBS. My husband was sent to the ER immediately, where the first neurologist — who had said he was fine — saw the results from a spinal tap confirmed GBS and ordered treatment in the ICU.
Why are so many diseases like his missed?
In part, it’s a result of the sheer number of conditions — roughly 7,000 to 9,000 in total — as well as the nearly 500 treatments with varying degrees of effectiveness, explained Marc Boutin, CEO of the National Health Council.
“The magnitude of need for innovation, especially [for] rare disease, is a particular challenge,” Boutin said. He added that for some diseases, it could take seven years from the point of asking for medical intervention to the point of diagnosis.
As patients, there are ways we can help close that gap. Below are some steps you can take to be proactive in your diagnosis, especially if you’re still searching for one:
Establish a relationship with a primary care physician
“Every team has a quarterback,” said Sharon Denise Allison-Ottey, M.D., a physician and health strategist. “If you’re the owner of the team, which you are as the patient, you need someone [who] oversees all of the players and knows you.”
She stressed the importance of seeing your primary care physician for annual checkups and wellness visits, not just when you’re sick. That way, should a health issue arise, you already have a starting point.
On average, most physicians spend 17 to 24 minutes with their patients each visit, according to a 2018 Medscape report. Make the most of that time, Allison-Ottey advised, by filling out new patient forms at home, keeping a current family health record and asking loved ones if they’ve noticed changes.
Allison-Ottey specifically cited one person she spoke with previously, whose husband had told her offhandedly that it was getting harder to put her necklace on her. “In the end, she said that to her doctor, he [ordered] an ultrasound, and she had an enlarged thyroid,” Allison-Ottey said.
The more prepared you are, the more productive the discussion will be with your health care provider.
Be informed, but choose your sources wisely
If you do your own research, consider the source, said Gwen Darien, executive vice president of patient advocacy at the National Patient Advocate Foundation. She said you should try to leverage information from credible academic medical centers, nonprofits for specific diseases and medical research centers, such as the National Institutes of Health.
“I wouldn’t assume that you are finding the answer,” Darien said. “I would assume that you are finding information that can hopefully lead you to an answer.”
Bring an advocate with you
Visiting the doctor can sometimes feel disempowering. Bring someone to take notes and ask questions. For example, when his father was tested for cancer, Boutin said he went with him to find out the results. Beyond being a support system, a family member or friend can help you navigate the health care system when you might not feel well enough to do so yourself.
Focus on symptoms, not self-diagnosis
When it comes to medical issues, Dr. Google isn’t always right. Instead of coming to the doctor with a self-diagnosis, Allison-Ottey suggested coming with a detailed description of your symptoms, along with pictures taken at the height of those symptoms.
“You are the partner that has the story,” she said. “The physician is the partner that’s listening to the story. If you don’t tell the story, they may miss it on the physical exam, they may miss it on bloodwork or they may go down the wrong route.”
Don’t leave anything out
In some instances, patients may omit details that they didn’t realize were connected to their problem, Boutin said. They might also feel uncomfortable talking about sensitive subjects, such as substance abuse, mental health or sexual activity. Make your doctor aware of everything, even if you feel uneasy about sharing.
“Doctors have heard it all,” Allison-Ottey said. “You won’t be judged. And if you are judged, then you need to find a new doctor.”
In a Consumer Reports study of 660 primary care physicians, most respondents said it is “somewhat” or “very” helpful for patients to ask them questions — and occasionally question their recommendations. But it’s all in your approach. Boutin and Allison-Ottey both recommend the “Ask Me 3 strategy,” which encourages patients and families to ask three questions of providers: “What is my main problem?” “What do I need to do?” “Why is it important for me to do this?”
“Those three questions can get you focused in on what the real issues are and allows for a real conversation,” Boutin said.
Get a second (or third or fourth) opinion
A three-time cancer survivor, Darien got her first cancer diagnosis after an internist told her she was fine.
“He looked at me, saw a profile of a seemingly healthy 35-year-old woman and made assumptions,” Darien said. She ended up in the hospital, where she was diagnosed with non-Hodgkin’s lymphoma.
If you do seek out other opinions, bring your past medical records with you, which may prevent doctors from repeating the same tests twice.
Seek out organizations that specialize in outliers
There are additional resources that patients can leverage, such as universities or organizations that specialize in certain diseases.
The Sjögren’s Syndrome Foundation helped Yvonne Hacker, a 60-year-old from San Pedro, California, learn more about her symptoms after she was diagnosed with Sjögren’s Syndrome, a systemic autoimmune disease that affects the entire body. Prior to that, she was undiagnosed and misdiagnosed for nearly a decade.
“I was just kind of in the dark,” she said. “It was scary and very frustrating.”
Meanwhile, she experienced excruciatingly dry eyes, dry mouth, fatigue and joint pain. “One morning, I woke up [and] my mouth was swollen, the inside of my cheeks were swollen, my tongue was swollen [to the point] that I could barely talk,” Hacker said.
Since Sjögren’s symptoms mimic other conditions and diseases, it can often be overlooked or misdiagnosed. Tennis superstar Venus Williams also struggled with misdiagnoses for years before being diagnosed with Sjögren’s in August 2011, which caused her to withdraw from the U.S. Open that year.
Share your story
Williams and Hacker have both raised awareness about the disease alongside the Sjögren’s Syndrome Foundation, Williams as a past honorary chairperson for its Awareness Ambassador Program and Hacker as one of its support group leaders.
“There are many Saturdays [when] I don’t feel like going,” Hacker said. “My body hurts, it’s difficult for me to talk or I’ve not been able to sleep. But once I get there with those patients, who are newly diagnosed or trying to figure out what’s wrong with them, it’s so rewarding. They’re all so grateful that they have some place to go and other patients to talk to.”