Advocating for patients can be a bit like watching someone else’s chess game. Over the years, I have had the opportunity to observe both patients and physicians as they confront challenging diagnostic dilemmas. In 2021, I was invited to sit on an expert panel on diagnostic excellence at Johns Hopkins, and spent many hours talking and thinking about this issue with physicians, academics and advocates from all over the world. The following observations are culled from my experience as a physician, as an advocate, and from my participation in that excellent weeks-long panel discussion.
Medical diagnosis is at the heart of what physicians do: it is the very bread and butter of medicine. Yet sometimes diagnoses are not listed in the medical record, nor shared with patients; and not too infrequently–according to a 2020 Institute of Medicine study – they are missed altogether.
How to avoid the classic pitfalls: keeping mind and eyes open
On reading my last blog, a physician colleague, Dr. Robert Arbeit, Adjunct Professor of Medicine at Tufts, wrote to me that an important error in medical diagnosis is assuming that common things are the most likely explanation for a patient’s symptoms. While in general this may be true, it is also true that less common diseases can present in the same way. This is even more challenging when patients present with multiple problems or have a new problem on top of an old one and multiple signals are heard selectively.
“It is really difficult to keep your eyes, ears, and mind wide open,” he said.
But achieving that state of mind is critical to the diagnostic process.
Pitfall #1: common things are common–but notice the symptom that doesn’t fit
Dr. Arbeit offered the example of the patient with new onset nausea, vomiting, dizziness. The symptoms were assumed to be a stomach bug–but when the patient came back with a seizure-like episode–she was found to have a brain tumor.
Nausea and vomiting go along with a stomach bug–but persistent dizziness does not.
Take away: if your symptoms don’t improve–go back to your doctor!
Pitfall #2: when the test result is “negative”
A patient I advocated for with dizziness, nausea and vomiting was assumed to have a migraine headache and was about to be discharged home. The patient’s sister called me. “What else could this be? My sister came in with nausea and vomiting and dizziness; but she has been admitted for days and still is weak and numb on her right side and has difficulty keeping her balance when walking; and her voice is so funny sounding. What does she have?”
After rethinking the case, the medical team suggested that the radiologist take another look at the MRI. On that review, they found a small brain stem stroke that had been missed on the first reading. Brainstem strokes cause a unique array of symptoms called Wallenberg’s syndrome, a rare but serious condition that this patient was ultimately diagnosed with.
In this case, the physicians had initially accepted a negative test report and allowed that to outweigh the important symptoms and physical findings. They had not questioned–could the test have been misread? Or did they need to check the study again?
Take away: if all the signs and symptoms point to a certain diagnosis and or are persistent yet the tests come back negative– ask your doctors to take a second look at the tests or consider repeating them.
Pitfall #3: The study is a true negative–but it is not the right study
“I think this patient has a fracture,” the intern explained to the resident.
The resident immediately asked, “What did the x-ray show?”
“Well–” the intern hesitated, a bit mystified by this–”the x-ray is normal. But I know this patient has a fracture. The exam findings are consistent–impressive bruising of the arm, localized tenderness, inability to use the arm. I’d like you to come see him.”
The resident was not happy, but grudgingly came to see the patient.
Half an hour later, the resident spoke with the attending, the senior physician on his team. “Well, I think the patient has a fracture–but the x-ray is negative.”
It turned out a different radiologic view was needed: this additional x-ray showed the hairline fracture perfectly. But the point is–the physical findings told the story yet almost were discounted.
Listening to the patient and believing the medical exam have become such hackneyed phrases. But here it was not just a matter of listening, but of asking an expert who knew the correct study that was required–which then allowed all the facts to fit together into a cohesive diagnosis.
Take away: if you continue to have symptoms consistent with a certain diagnosis–it is really important to keep looking, perhaps in different ways–to get the answer.
Pitfall #4: not obtaining a diagnostic test
One young child had a skin rash that was diagnosed as psoriasis. The diagnosis was based on the way the skin looked–NOT by a biopsy. Years later, when a biopsy was obtained, the rash was diagnosed as eczema–an easily treated skin condition.
In that child, the outcome was ultimately good; but in another child, at another medical center, a rash that was caused by a serious infection was assumed–without a biopsy– to be an autoimmune process and the patient was given high dose steroids. Sadly, the undetected fungal infection was fatal.
Making assumptions–and more importantly, suggesting therapy without proof of the underlying diagnosis–can have bad outcomes.
In infectious diseases, we follow the adage: know what you are treating. Treating empirically–or just guessing what the disease is, without proof–has certain risks; if the situation is critical and an infection is in the differential – then we treat infection and other diagnoses empirically while trying to sort it all out as fast as possible. But when one has time–as in these cases–it is so important to establish a diagnosis prior to therapy.
Take away: ask your doctor what your diagnosis is. They should be able to provide you with a diagnosis and tell you what studies they are basing that diagnosis on. Ask if other additional diagnoses are still under consideration and what additional studies could be done to resolve the diagnosis.
The potential negative impact of diagnostic error on patient behavior
Dr. Arbeit points out, “It is well established that one of the worst things one can do when a patient presents with a new symptom is giving them the impression it is ‘nothing serious’ as they are sent home.”
Some responses may be meant to provide reassurance (“Follow up as needed” –rather than a specific plan for a condition that is evolving; or “You don’t look very sick to me”) but in fact imply that the issue is not significant.
The issue is that when their problem worsens, the patient is likely to delay seeking additional help – until the problem has progressed substantially, at which point it may be very serious and more difficult to treat.
Take away : even if the outcome of seeking care feels like you were given the message “it’s nothing serious,” it is important to come forward again if the problem worsens.
Ways to improve diagnosis: what the patient can do
How can patients help address these common problems that lead to errors in diagnosis?
Ask your doctor what the “differential diagnosis” is–or simply–”what else could this be?”
Be aware of how bias may creep in and lead a clinician to discount symptoms: if a patient also has a psychiatric diagnosis, or is a woman, or even a fellow health professional, a clinician may at times not listen.
In those cases, seeking out another opinion may be the best way to go.
Here are a few ways to make yourself “seen”–and heard:
1/ If your doctor doesn’t listen to you, take a family member, friend or advocate with you; if they still don’t listen–find another doctor
2/ Ask a member of your medical team–a nurse, a social worker, or a doctor–to advocate for you
3/ Ask to have a copy of your study reports and ask to go over them with the doctor. If they don’t have time–make another appointment, or find another doctor who will
4/ Gather your records. Be methodical. Keep a copy of all lab reports and x-ray studies, and clinic notes. Keep them in a notebook, and take that with you to each appointment with a specialist.
5/ Practice telling your history–and if possible, try it on a friend or family member so they can help you focus it. Docs are short on time. So the more focused the story is, the better. You can also write it down, along with your questions, and send it to the doctor ahead of time.
In sum, don’t fear ridicule and don’t be afraid to ask questions. Don’t worry that you are being dismissed because of who you are. Misdiagnosis happens to everyone–to physicians, to nurses, to people of every skin color and age. Of course bias exists in medicine. But don’t take it personally if doctors can’t figure out the diagnosis; be persistent and find doctors who will approach your medical condition with an open mind.
Medical Disclaimer:
All patient names are changed to protect patient confidentiality.
The suggestions given here are not intended as a substitute for the medical advice of your physician. The reader should regularly consult a physician in matters relating to his/her health and particularly with respect to any symptoms that may require diagnosis or medical attention. For additional questions, please call your healthcare provider for reliable, up-to-date information on testing and symptom management of all medical concerns.
Photo credit: Nick Youngson CC BY-SA 3.0 Pix4free“>Diagnosis by Nick Youngson CC BY-SA 3.0 Pix4free
