Maybe the place to start is to acknowledge our diagnostic limitations, while realizing that our therapeutic interventions aren’t just limited to pills and procedures.
Go blue jays!!!! Lucky for BMMC and Omaha to have you. Glad to see another chi md and Omahan reading Sensible Medicine. Great post. Full agreement here.
All of us who have practiced emergency medicine, or medicine in the emergency department in countries where this specialty doesn’t exist, have seen this kind of patient. Good for her that she was not critically ill, but her constellation of symptoms and signs are suitable for a MGH case presentation in the NEJM.
Getting the right diagnosis is a Sherlock Holmes / Dr House challenge. The patient is way beyond of what we frequently see in practice.
What about using AI in order to get the differential diagnosis and reach the right one?
Having the right diagnosis would help her understand what really happens and how to mitigate it if there is no definitive cure.
Of course, all patients are bodies and souls and we as a practitioners have to treat both. There are no illnesses but patients.
I love, Dr. Milyavsky, that you question your own motivations: how often am I using the fact that I'm an ED doc as a cop out? It's easier for you to make sure they're not going to die soon and send them on their way and, strictly speaking, that is your job. I love, though, that you wonder if you could do more, and what that might be, and when might you do it.
Absolutely. I half-jokingly say that as a family doc I practice quaternary care - with patients who have gone from primary care, to local specialists, to academic center specialists, and then to the Mayo or Cleveland Clinic or some such, and come back to me either without a diagnosis or with one of those vague diagnoses - at which point I can reassure the patient that as far as anyone knows they do not have a cancer or some other specific fatal illness, and we can stop worrying about tests and diagnoses and start to concentrate just on helping them to feel better.
I appreciate the openness, but want to hone in on methodology a little. I get that in a run-of-the-mill case, the question "why" doesn't matter much. If you throw a statin at someone and they're one of the, what, 80% of cases where it works, that should be good enough.
But the calculus seems like it should be different in the harder cases. I like Dr. Sanders line that in many cases it's hard or impossible to get the treatment right without having the right diagnosis. (The Yale doc, House advisor, writes NYT Diagnosis column, Netflix Diagnosis show, etc)
If a patient has an on-going relationship and it's likely to go on for years, it seems that there's some value in also having an on-going discussion and effort to explore testing options, discussing theoretical possibilities, and thinking about how to ID and build towards more helpful referrals. Ideally, via specific add'l visits apart from the normal ones.
That way your practice gets paid and the person's medical care isn't the equivalent of how the US fights insurgencies (fighting repeated one-year wars over decades rather than focusing on making incremental but strategic progress).
With, what, 10,000 possible diagnoses (putting aside the slippery symptom/disease distinction) out there, it seems like it'd be easier to forge an effective partnership if the question isn't management/coping vs. testing/diagnosis but rather how much time, investment, etc. can or should be aimed at each. Both by you as a doctor and by the person.
This reminds me of my struggles for patients with Chronic Fatigue Syndrome, Gulf War Syndrome, “Chronic Lyme Disease” and Delusional Parasitosis
The CFS patient I had was in the early 90’s, the daughter of a patient I was trying to treat for recurrent CDI. She’d moved back in with her parents after losing her jog to fatigue and lassitude. I did everything I could, sent off every test, obtained the fever logs but, in the end all I could was sympathize. Eventually I suggested a Psychiatrist to help her deal with tghe disease. She went on to start a Group and write a newsletter. I don’t know what happened to her. At the time I was told it was psychosomatic.
The GWS was a guy who was having unremitting anxiety after serving on the ground in Desert Storm. He also had fatigue, memory loss, inability to concentrate, arthralgia and sleep disturbance. He’d been to the VA. Where they blew him off. I sent all the testing his symptoms and exam (negative) led me to, including a brain MRI which was challenged by the Chief of Imaging. After coming back with negative results all I could do was empathize. Eventually I suggested a Psychiatrist. He denounced me in the most forceful of ways and I never saw him again.
The Chronic Lyme Disease patient was my associates but I was asked to render a second opinion. His chronic fatigue, inability to focus and diffuse joint aches were diagnosed by a positive urine test from a lab I’d never heard of using an assay I’d never heard of. He’s been hustled by a physician to whom he was paying cash for 4 grams of Ceftriaxone, had experienced upper extremity DVT from the innumerable PICCs, and was now demanding we cover all that care. Hs symptoms were no better after almost two years of this nonsense and I told him my colleague’s assessment was accurate and we were no longer going to administer the treatments he’d been described. I suggested he see a Psychiatrist. he denounced me in the most forceful of ways. However, a year later he wrote a letter to my colleague informing him he realized our assessments of his Lyme disease were correct.
The DP patient was convinced worms were emerging from his umbilicus and showed me the lint he’d collected in sample jar as proof. He told me one was emerging at that moment. I’ll never forget he, I and my assistant standing and staring, transfixed at his posed navel and expecting…what? A Xenomorph? I told him he didn’t have parasites, he denounced me…you know the story
This is the other side of the many many complaints about "gaslighting" from autoimmune, ME/CFS & Long covid patients, usually women.
Have no Dx, send to psych seems to be a response of first ("get this crazy woman out of my hair") or last ("no idea what she has, maybe psych can help") resort.
My husband has a chronic debilitating condition: myalgia, POTS, dysautonomia. His rheumatologist (now dead) years ago told him., "Mr Z, no matter how I try I can't believe you're crazy."
Z used to chat up the women in the waiting area for his long-standing PT practice in Berkeley. His comment that applied to nearly all of them, "Just because they are crazy doesn't mean they aren't sick."
I'd add to that that many chronic conditions produce perfectly understandable depression & anxiety. I've met many such women myself and they do read crazy. While that doesn't mean they aren't physically sick, too, I can understand the impulse to just not deal with them.
It's sad that you DID try everything, including listening, and that wasn't appreciated. I've found in my 80 years that you can tactfully disagree and not burn a bridge.
Just out of curiosity, what was the extent of "every test" for the first two? Part of the reason for asking is that one aspect of diagnosis that I feel is under-appreciated is that it's a variation of the "halting problem":
I don't have a dog in the hunt for any of those things you listed, but there are studies coming out re: measurable biological abnormalities for ME-CFS-related cases and then there's the Gulf War problems with measurable brain changes reflected, say, in the relevant episode of Dr. Sander's Netflix "Diagnosis" show. Psychology alone - especially if not itself accompanied by a measurable biological abnormality - has proven to be a risky branch to rely on. (Say vs. h. pylori in ulcers or it's replication crisis as a field).
Now you are putting me through my paces it was so long ago. If memory serves “every test” was directed at autoimmune disorders such as what was available at the time: CBC, ANA, RF, wESR, SPIEP plus LFTs, CPK, Aldolase , HLA B27. Sometimes CT scan of chest and abdomen. Mostly a fishing expedition because, like “Long COVID” now, the symptoms were non specific and the physical findings absent.
Regarding CFS and Gulf War Syndrome of course I’m now aware that a lot of blood has passed under those bridges and treatments are available to, at least, try. For CFS back then Imipramine or Desipramine were suggested, SSRIs were too new. I think I tried Elavil on one patient with horrible side effects. Soon after the ID docs decided CFS was not an Infectious Disease and the referrals stopped.
I was not satisfied with any of these cases and Rheumatology took over.
As far as the halting syndrome that is incomprehensible to me
First, thanks for sharing! Part of the challenge in discussing these things is that just like there’s wide variations in doctor skills - like anything else - there are widely varying views re how much testing is enough vs too much.
The halting problem is easiest to describe in computers. If a computer ends up being asked to solve an unsolvable equation, it freezes up. To avoid that, you can limit how deep into the solving process the computer will run. This prevents freezing but there will be some number of solvable problems that won’t be solved because the number of steps (or time) to solve it exceeds the cut-off.
In theory, it’d be ideal to figure out ahead of time which problems can’t be solved vs. those that can. Or those that can be diagnosed vs. those that can’t. But it turns out it’s impossible to really do that.
So there are big trade-offs involved in limiting vs. going on. If someone’s body seems to be kicking their butt, that trade-off looks very different for them than it would sitting on the other side of a desk.
Take VEXAS syndrome. It has to have been around far longer than its recent discovery. But how many sufferers must have been put on the back-burner or disbelieved before a biological cause was found? I’d submit that the objective evidence of high diagnostic error rates like 25% in repeated contexts (autopsies, etc.) is enough to warrant great caution in latching on to conclusions that effectively foreclose finding a potentially mundane or treatable non-psych cause.
With dependable commercial WGS running for as little as a couple hundred bucks, there’s really no reason not to find a way to use it to flush (and flesh) out a hard to diagnose person’s genetic playing field. Don’t use it for initial clinical reliance but rather as a tool for generating testable clinical hypothesis. Even if self-ordered commercially. It’s actually not hard to push things like CADD scores (rough predicted pathogenicity) and alt allele frequencies to every single variant in a person’s most likely relevant genes to then ID a relatively small set of potential problem areas.
This. My husband has an undiagnosable chronic condition, likely autoimmune adjacent, judging by his family history (mother with MS) & DNA tests. But he's negative on all labs, despite debilitating symptoms.
When these cases were referred to me they were problems which hadn’t been solved. Each patient, again, if memory serves, was frustrated and pessimistic but given high expectations by the referring physicians that their problem would be solved.
VEXAS reminds me of when I began my private practice at the very beginning of the HIV Pandemic - back when it the acronym was GRIDS, so I had to be good at relating to patients for whom there was little, if anything to be done. I could write a Substack about what that was like but to your point the measure of a good physician may be how they are able to deal with what can’t be solved. Put another way, solving the solvable is easy.
I can only imagine what that was like at the time. It's hard enough to see so much suffering today and it was so concentrated and intense in the US. Plus the toll in Africa itself - even with PEPFAR.
I'm with you on "solving the solvable is easy" but would add one word: "solving the easily solvable ..."
The difference is slight but important.
As I like to put it, "there must be a reason why hard cases are hard." Some may be unsolvable and undetectable -- even with modern technology. But as the tools available have grown in extent, power and economic availability, it's demonstrable that the scope of the unsolvable has shrunken considerably.
As patients it's important to realize that having a hard case is going to be different than walking in with a running nose. It's a marathon rather than a sprint. And a key thing to be on the lookout for is objectively observable abnormalities - like blood tests - that can potentially bridge to and even explain the subjectively experienced problems.
But doctors almost universally could -- and really need to -- recognize the same thing: there's a reason hard cases are hard. And just on odds alone, having a rare disease or atypical presentation should usually be at or near the top of heap. So there's always good reason to keep an eye open for the possibility of a measurable problem as well as a diagnosable or treatable cause.
One reason I keep coming back to the rare disease example is because it's so well-studied as an area but also counter-intuitive. Yes, individually, each disease has to have 200,000 or less in the US, and for many it may be as few as 10-20.
But with an est. of, what, 7,000 to 10,000 of them, they collectively involve tens of millions of Americans. Look for horses first, but the equine world isn't exactly lacking for zebras. Especially in Africa.
It's unreasonable to expect any doctor to just light on the right one, especially on a single visit to an over-worked PCP. But there's plenty of room to more methodically approach each problem. And for both patients and doctors to strive for a better -- or even real -- partnership to try and advance the ball. Even when some hard challenges exist on both sides.
Even if it takes a year or three (or more) to do it right, that's a huge improvement on what's often decades with multiple rounds of diagnostic error and harmful treatments for those with problems. Especially when there's diagnostic disagreement between doctors, which I've never seen or heard of being handled well but have seen leaving too many patients left holding the bag. And then resented for it.
Lifestyle is important too, but it's often treated as an exclusive reason when it shouldn't be. As I tell some of the people I chat with, doing heroin isn't going to help move the diagnostic ball forward. (A little dark humor helps to get through...)
But the flip side parallels a line I heard from a hematologist: for polycythemia vera patients, they can try to eat their way out of their functional iron deficiency, but as long as the flip is switched on to always making too much blood, they can't do it. And so they'll suffer as long as it is untreated. Or until they go on Jakafi. (grin)
If a problem is recognized as life-threatening or devastating enough, the medical system often performs some amazing miracles (esp. with the best doctors). But it just as often struggles with the progressive medical problems -- whatever the reason for them existing in the first place -- until a person has lost key abilities to help themselves.
Ironically, I suspect part of the "problem" is that we've gotten so good at keeping people alive who had episodes earlier in life in which they would have died in decades or centuries past. I have personal reasons to appreciate that! But we should also probably be less surprised that many of those same people have unusual health problems later. (I get that the treating doctors are almost always different...)
A parting thought is that I'm not sure that it's appreciated just how wide the range of doctoring skills is out there. Just as with lawyers, a shocking number really suck. And even in specialty areas, the difference (persisting over decades) between say the best-performing and the average-performing cystic fibrosis center is shockingly large.
Plus, we're all human. Even the very best will make mistakes. The best way to minimize those risks is to be aware of them and to maintain epistemic humility even in the face of a patient whose every visit might be dreaded or a source of annoyance. Unfortunately, scars can run deep on both sides of the relationship.
The one sure way to make sure a problem is both unsolvable and untreatable is for both the patient and treating doctors to give up. But even if only one side or the other does, the result almost surely will the same. I just think there's both hope and good reason to think we can all do better. (grin)
"Ironically, I suspect part of the "problem" is that we've gotten so good at keeping people alive who had episodes earlier in life in which they would have died in decades or centuries past. I have personal reasons to appreciate that! But we should also probably be less surprised that many of those same people have unusual health problems later. (I get that the treating doctors are almost always different...)"
Indeed, antibiotics & vaccines have produced big evolutionary changes in the human genome in a remarkably short period of time, mostly because survivors now reproduce who never would have in the pre-antibiotic era.
Traveling through the medical system while coming from a background practicing law has proven to be an interesting experience. While there are many parts that work well -- usually for run of the mill problems like a broken arm or strep -- it does seem that doctors (individually and collectively) have difficulty squarely confronting their institutional holes and the damage that inflicts on millions to tens of millions of people in the US alone.
There's only about 400 medical systems in the country. Can anyone name one that has any practice group dedicated to trying to get to the bottom of difficult to diagnose and/or treat cases for the whole system's hard-to-diagnose or treat patients?
Take Mayo. They've got an internal medicine specialist group, but last I checked they don't have or allow continuing relationships to try and determine what's going on over any extended period of time. Nationwide, primary care isn't built to handle diagnostic challenges and I'm not aware of any real coordinating across specialties or even integrating what each might find in any system. Love to hear I'm wrong and why.
The closest might be the Undiagnosed Disease Network. It's a great idea, but over its whole existence it's just approaching 3,000 patients allowed in, resulting in a smidge under 800 diagnoses. Compare that against the estimated prevalence of rare disease in the US, which I've seen repeatedly estimated is something like 5 to 9% (i.e. something on the order of 15-30 million people) with 70-80% having a genetic basis.
The mismatch between that need and the current practical failure of the medical system to meet either the diagnostic or treatment portion of that need would be a good starting point for addressing the even broader challenges out there. I've mentioned this elsewhere, but is there any primary care physician who has anything close to 5% of their patient base diagnosed with rare diseases?
Stepping back a little, it's hard not to keep coming back to the fact that about 5% of the population accounts for 50% of medical costs. It seems obvious that a well-functioning system would try to ferret out as many of those 5% before they reach that point - recognizing car accidents and the like are also part of that group. But how many just get bounced around until it's too late to effectively treat the suffering or effectively reduce the cost of care? And is there any place in the system either focused on or incentivized to hunt them down?
Part of the problem is the rampant agency problems that afflict medicine, many of which are rarely, if ever, acknowledged and most of which seem to be handled in ways that would lead to discipline or disbarment for a lawyer. Failure to look at the system from the full range of patient diagnostic needs that we know it must handle -- which seems like a truly evidence-based and fully population-based approach -- also strikes me as a guarantee of widespread problems.
While patients often don't do themselves any favors, last I checked they aren't generally licensed medical professionals. Just looking at taking a personal/family history, I'm always amazed at all the literature and personally-related experiences in which doctors expect or effectively force patients to anticipate what's relevant. That's the exact opposite approach that a good interview should take in the law.
I'm confident that there are plenty of room for diagnostic improvement using current technologies and abilities, especially if physicians made a more concerted effort to leverage the ways patients can potentially help the doctor above and beyond, say, something important like not smoking.
But there also seems to be precious little space for having the necessary on-going conversations either within or outside individual medical systems. This substack is notable for making an effort, but the scope and nature of the problem really calls for more sustained opportunities and channels to work through both the challenges and potential improvements.
Personally, I think it'd be fascinating to learn about a system with a diagnosed rare disease patient base that approaches the estimates or hear from doctors regarding how their own patient bases match up against those rare disease estimates. And the effort to grapple with any aspect of diagnostic challenges which tie together weighty epistemic issues with similarly deep methodological, practical, and other issues is also appreciated.
DX “ I don’t have a specific diagnosis for you today buts let’s talk about what might help you deal with these symptoms right now and help you until another Doctor perhaps who is smarter than me and can find an answer. “
Here's my unseen diagnosis: possible gut related problems. What is her diet? What are her stress factors? Has she had any vaccines or mRNA injections? What drugs is she taking? Of course, her problems are not going to be solved in the ER or with any drugs. Just giving out prescriptions without a clue as to the problem is why I avoid mainstream medicine.
A big reason why people with chronic, diffuse symptoms will go to the ER is shear anxiety. I've seen many patients who have a history of frequent ER or UC visits with various symptoms. Many times (after seeing them for the first time and establishing care as PCP), I'll think we'll be doing lots of tests, need to try medications, etc. I've been surprised about how many come back the next couple times and when I suggest considering medication they say "I don't need it! I feel better just knowing I have someone who I can see and will listen to me".
When someone is left alone with their own symptom-focused anxieties and fears, having no other support or input, going to the ER seems the only thing to do. They at least get reassurance they are not dying.
And the range of human mindset is varied. Some will respond extraordinarily well to a good relationship with PCP and not need further ER visits. Others are still more difficult to calm and will still do the occasional ER visit. It can be a long process. The underlying coping skills, psychosocial support, mental health diagnoses, etc of each person factors in.
I do believe that some people have medical issues that we cannot diagnose. My approach has been to do my best with reasonable evaluations/testing/treatment trials/referral to specialists - sometimes an uncommon condition is finally discovered. But sometimes you just don't pinpoint or solve the problem. And I feel comfortable telling a patient that whatever is causing their symptoms is something we can't label or cure, but we can try to manage symptoms. And many accept that.
The ER truly isn't the place to "solve" the problem, but as pointed out here, general compassion and an understanding that this is a manifestation of anxiety can remove some of the frustration or anger felt on the physician's end. Trying to keep the evaluation focused and avoid extensive repetitive testing is ideal, but the ER is not the place to truly parse that. It does come down to establishing a trusting relationship with a PCP. Not every PCP is up to this challenge and, unfortunately, current medical climate does not foster or acknowledge this and continues the focus on the 15 minute appointment, where speed and "productivity" are demanded and financially rewarded.
As a neurologist, I’ve come across many of these often diagnosis-less mystery illnesses over the years. The ER isn’t the place to unravel years-long diagnostic dilemmas.
It is definitely not the place to unravel chronic illness, but many of us have a diagnosis that doctors aren't familiar with, so better education would help. It also helps when staff listen to us as we know our situation better than anyone.
Agreed. Dr. Milyavsky is in the Emergency Department. The patient is already plugged-in to the medical system. There is no acute issue that he's identified. Treat 'em and street 'em.
As I am a psychiatrist, these sorts of pts. were referred to me, b/c the referring physician, thought they were “crazy.”
They were plagued by after the fact depression and anxiety but it seemed to me they were particularly bothersome b/c they reminded the dr. of his/her “failure.” A lot of the time, they made no bones about it—“this person is crazy” often in the pt.’s hearing.
It is highly likely that this pt. was seeking a compassionate interaction with a non-psychiatric physician. Sorta like beating her head against a wall, but there’s a determination that this dr. WILL understand that her sx aren’t due to prior mental health issues.
I have a sister who undoubtedly presented in a similar fashion. She is a molecular biologist and a lawyer, and even so, she wasn’t taken seriously. She was right about her sx.
She had many sx due to a pheochromocytoma that was removed when she was 9. In her 20’s, she suffered from a bowel strangulation due to adhesions.
She developed Addison’s Disease b/c along w/ the tumor, her L. adrenal gland and kidney were removed. Yeah, the other adrenal is supposed to p/u the slack, which it undoubtedly did for 10-15 years before decreasing or stopping its actions.
4 ft. of small bowel were removed in the operation to treat the obstruction, which over years led to vitamin and nutrient deficiencies.
Pretty much all hormone related body activities have been affected. The latest non-adrenal hormone affected has been the thyroid hormone which led to hypothyroidism.
She backs up her help seeking with sx specific research. She has never been crazy, but she has been after the fact anxious, depressed and angry.
Any dr. faced w/her could justifiably become angry,despite the fact that she is kindly and patient in her interactions and uses a low voice.
I think a dr. in this situation should, of course,implement any therapies or consultations that haven’t been done. But in the absence of that, a compassionate review of what has been done w/ the results can lead the dr. and pt. to the obvious conclusion. The dr. then may say , “I don’t know how to help you further, what do you think?”
Chances are, if she’s like my sister, she’ll concede the point. The dr. can always add something like, “There probably will be new developments in the future, we’ll have to see.”
I had the bright idea of combining acupuncture with psychiatric interventions, but I wasn’t able to try it due to early retirement b/c of illness. In my next life, perhaps I will! I thought in addition to psychotherapy and medication, it would address the issue en pointe, literally.
Someone like your sister needs a caring, compassionate doctor who, if all he did were to listen and not necessarily offer a fix (pill) would probably give her real consolation. I have chronic pain and the director of the pain clinic I've been going to for many years didn't have ready answers at my first visit, but was so real and so honest that it was a comfort that's hard to describe and helped me shoulder the load. I no longer felt alone even if I still felt pain
Very often people are seeking care, the feeling of being seen and looked after. When you feel crummy you want someone to take the lead and make it better in some way. As healthcare providers that is fundamentally our job. Obviously accurate diagnosis and treatment are part of it but if you don’t feel cared for- that wont do the trick. I have been a nurse for 29 years and my most important tools in making people feel better are juice boxes, cups of tea and an offer to hear their story. Ten minutes and a few tears or laughs later, and they feel better (was that not the goal?) and ready to hear what I or the doctor are saying. Often what they needed most was someone to bear witness to their suffering. Because they feel heard they reveal much more, often giving you the tidbit of information that makes the diagnosis much easier.
This process of taking the lead and looking after someone also impacts those of us doing it. You Understand that you are their best bet in this moment. Feeling your caring with the power you hold in that moment- renders you the most creative you can be- you are the answer for this person right now- what can you employ to identify their issue and make it better?
As humans, we are literally designed to exist in families and communities of cascading care. When someone presents their vulnerability to you, your most beautiful human instincts should lead you to take the lead and look after them- how to look after them will become obvious when you start from there.
Since this was a known issue for this patient why did she present at the ER? You never said if it was pain or something else. I would doubt if she's been thru the doctor mill, as you said, she was looking for an ER doc to do a miracle.
Now retired, but I once was an emergency doctor, and have done 40 years of family practice.
I wonder, when I read a clinical scenario like the one you describe, what the patient herself was hoping to accomplish in coming to the emergency department. What was the emergency? She’d had the problem for years, had tried various therapies, no doubt had undergone endless testing, and was awaiting a (more likely another) specialist assessment. What hope was there that you would figure it all out, when nobody else had?
Put another way, you were thinking she wanted a diagnosis. She probably had another goal in mind, maybe compassion, maybe a brief respite from her symptoms, who knows. Sometimes I would simply ask the patient what they hoped to achieve when they came today. The answers often surprised me, in that what they wanted was quite realistic, often fairly basic, and easily provided.
“What treatment in an emergency is administered by ear?”
“Words of comfort.”
Cutting for Stone by Abraham Verghese
Go blue jays!!!! Lucky for BMMC and Omaha to have you. Glad to see another chi md and Omahan reading Sensible Medicine. Great post. Full agreement here.
All of us who have practiced emergency medicine, or medicine in the emergency department in countries where this specialty doesn’t exist, have seen this kind of patient. Good for her that she was not critically ill, but her constellation of symptoms and signs are suitable for a MGH case presentation in the NEJM.
Getting the right diagnosis is a Sherlock Holmes / Dr House challenge. The patient is way beyond of what we frequently see in practice.
What about using AI in order to get the differential diagnosis and reach the right one?
Having the right diagnosis would help her understand what really happens and how to mitigate it if there is no definitive cure.
Of course, all patients are bodies and souls and we as a practitioners have to treat both. There are no illnesses but patients.
I love, Dr. Milyavsky, that you question your own motivations: how often am I using the fact that I'm an ED doc as a cop out? It's easier for you to make sure they're not going to die soon and send them on their way and, strictly speaking, that is your job. I love, though, that you wonder if you could do more, and what that might be, and when might you do it.
Thank you.
Absolutely. I half-jokingly say that as a family doc I practice quaternary care - with patients who have gone from primary care, to local specialists, to academic center specialists, and then to the Mayo or Cleveland Clinic or some such, and come back to me either without a diagnosis or with one of those vague diagnoses - at which point I can reassure the patient that as far as anyone knows they do not have a cancer or some other specific fatal illness, and we can stop worrying about tests and diagnoses and start to concentrate just on helping them to feel better.
I appreciate the openness, but want to hone in on methodology a little. I get that in a run-of-the-mill case, the question "why" doesn't matter much. If you throw a statin at someone and they're one of the, what, 80% of cases where it works, that should be good enough.
But the calculus seems like it should be different in the harder cases. I like Dr. Sanders line that in many cases it's hard or impossible to get the treatment right without having the right diagnosis. (The Yale doc, House advisor, writes NYT Diagnosis column, Netflix Diagnosis show, etc)
If a patient has an on-going relationship and it's likely to go on for years, it seems that there's some value in also having an on-going discussion and effort to explore testing options, discussing theoretical possibilities, and thinking about how to ID and build towards more helpful referrals. Ideally, via specific add'l visits apart from the normal ones.
That way your practice gets paid and the person's medical care isn't the equivalent of how the US fights insurgencies (fighting repeated one-year wars over decades rather than focusing on making incremental but strategic progress).
With, what, 10,000 possible diagnoses (putting aside the slippery symptom/disease distinction) out there, it seems like it'd be easier to forge an effective partnership if the question isn't management/coping vs. testing/diagnosis but rather how much time, investment, etc. can or should be aimed at each. Both by you as a doctor and by the person.
This reminds me of my struggles for patients with Chronic Fatigue Syndrome, Gulf War Syndrome, “Chronic Lyme Disease” and Delusional Parasitosis
The CFS patient I had was in the early 90’s, the daughter of a patient I was trying to treat for recurrent CDI. She’d moved back in with her parents after losing her jog to fatigue and lassitude. I did everything I could, sent off every test, obtained the fever logs but, in the end all I could was sympathize. Eventually I suggested a Psychiatrist to help her deal with tghe disease. She went on to start a Group and write a newsletter. I don’t know what happened to her. At the time I was told it was psychosomatic.
The GWS was a guy who was having unremitting anxiety after serving on the ground in Desert Storm. He also had fatigue, memory loss, inability to concentrate, arthralgia and sleep disturbance. He’d been to the VA. Where they blew him off. I sent all the testing his symptoms and exam (negative) led me to, including a brain MRI which was challenged by the Chief of Imaging. After coming back with negative results all I could do was empathize. Eventually I suggested a Psychiatrist. He denounced me in the most forceful of ways and I never saw him again.
The Chronic Lyme Disease patient was my associates but I was asked to render a second opinion. His chronic fatigue, inability to focus and diffuse joint aches were diagnosed by a positive urine test from a lab I’d never heard of using an assay I’d never heard of. He’s been hustled by a physician to whom he was paying cash for 4 grams of Ceftriaxone, had experienced upper extremity DVT from the innumerable PICCs, and was now demanding we cover all that care. Hs symptoms were no better after almost two years of this nonsense and I told him my colleague’s assessment was accurate and we were no longer going to administer the treatments he’d been described. I suggested he see a Psychiatrist. he denounced me in the most forceful of ways. However, a year later he wrote a letter to my colleague informing him he realized our assessments of his Lyme disease were correct.
The DP patient was convinced worms were emerging from his umbilicus and showed me the lint he’d collected in sample jar as proof. He told me one was emerging at that moment. I’ll never forget he, I and my assistant standing and staring, transfixed at his posed navel and expecting…what? A Xenomorph? I told him he didn’t have parasites, he denounced me…you know the story
This is the other side of the many many complaints about "gaslighting" from autoimmune, ME/CFS & Long covid patients, usually women.
Have no Dx, send to psych seems to be a response of first ("get this crazy woman out of my hair") or last ("no idea what she has, maybe psych can help") resort.
My husband has a chronic debilitating condition: myalgia, POTS, dysautonomia. His rheumatologist (now dead) years ago told him., "Mr Z, no matter how I try I can't believe you're crazy."
Z used to chat up the women in the waiting area for his long-standing PT practice in Berkeley. His comment that applied to nearly all of them, "Just because they are crazy doesn't mean they aren't sick."
I'd add to that that many chronic conditions produce perfectly understandable depression & anxiety. I've met many such women myself and they do read crazy. While that doesn't mean they aren't physically sick, too, I can understand the impulse to just not deal with them.
Being sick changes everything about a person’s life. Stating the obvious, humans are very complex organisms and sick people are even more complex.
I tried to see it that way.
It's sad that you DID try everything, including listening, and that wasn't appreciated. I've found in my 80 years that you can tactfully disagree and not burn a bridge.
Just out of curiosity, what was the extent of "every test" for the first two? Part of the reason for asking is that one aspect of diagnosis that I feel is under-appreciated is that it's a variation of the "halting problem":
https://en.wikipedia.org/wiki/Halting_problem
I don't have a dog in the hunt for any of those things you listed, but there are studies coming out re: measurable biological abnormalities for ME-CFS-related cases and then there's the Gulf War problems with measurable brain changes reflected, say, in the relevant episode of Dr. Sander's Netflix "Diagnosis" show. Psychology alone - especially if not itself accompanied by a measurable biological abnormality - has proven to be a risky branch to rely on. (Say vs. h. pylori in ulcers or it's replication crisis as a field).
Now you are putting me through my paces it was so long ago. If memory serves “every test” was directed at autoimmune disorders such as what was available at the time: CBC, ANA, RF, wESR, SPIEP plus LFTs, CPK, Aldolase , HLA B27. Sometimes CT scan of chest and abdomen. Mostly a fishing expedition because, like “Long COVID” now, the symptoms were non specific and the physical findings absent.
Regarding CFS and Gulf War Syndrome of course I’m now aware that a lot of blood has passed under those bridges and treatments are available to, at least, try. For CFS back then Imipramine or Desipramine were suggested, SSRIs were too new. I think I tried Elavil on one patient with horrible side effects. Soon after the ID docs decided CFS was not an Infectious Disease and the referrals stopped.
I was not satisfied with any of these cases and Rheumatology took over.
As far as the halting syndrome that is incomprehensible to me
First, thanks for sharing! Part of the challenge in discussing these things is that just like there’s wide variations in doctor skills - like anything else - there are widely varying views re how much testing is enough vs too much.
The halting problem is easiest to describe in computers. If a computer ends up being asked to solve an unsolvable equation, it freezes up. To avoid that, you can limit how deep into the solving process the computer will run. This prevents freezing but there will be some number of solvable problems that won’t be solved because the number of steps (or time) to solve it exceeds the cut-off.
In theory, it’d be ideal to figure out ahead of time which problems can’t be solved vs. those that can. Or those that can be diagnosed vs. those that can’t. But it turns out it’s impossible to really do that.
So there are big trade-offs involved in limiting vs. going on. If someone’s body seems to be kicking their butt, that trade-off looks very different for them than it would sitting on the other side of a desk.
Take VEXAS syndrome. It has to have been around far longer than its recent discovery. But how many sufferers must have been put on the back-burner or disbelieved before a biological cause was found? I’d submit that the objective evidence of high diagnostic error rates like 25% in repeated contexts (autopsies, etc.) is enough to warrant great caution in latching on to conclusions that effectively foreclose finding a potentially mundane or treatable non-psych cause.
With dependable commercial WGS running for as little as a couple hundred bucks, there’s really no reason not to find a way to use it to flush (and flesh) out a hard to diagnose person’s genetic playing field. Don’t use it for initial clinical reliance but rather as a tool for generating testable clinical hypothesis. Even if self-ordered commercially. It’s actually not hard to push things like CADD scores (rough predicted pathogenicity) and alt allele frequencies to every single variant in a person’s most likely relevant genes to then ID a relatively small set of potential problem areas.
Hope that makes some sense.
This. My husband has an undiagnosable chronic condition, likely autoimmune adjacent, judging by his family history (mother with MS) & DNA tests. But he's negative on all labs, despite debilitating symptoms.
When these cases were referred to me they were problems which hadn’t been solved. Each patient, again, if memory serves, was frustrated and pessimistic but given high expectations by the referring physicians that their problem would be solved.
VEXAS reminds me of when I began my private practice at the very beginning of the HIV Pandemic - back when it the acronym was GRIDS, so I had to be good at relating to patients for whom there was little, if anything to be done. I could write a Substack about what that was like but to your point the measure of a good physician may be how they are able to deal with what can’t be solved. Put another way, solving the solvable is easy.
I can only imagine what that was like at the time. It's hard enough to see so much suffering today and it was so concentrated and intense in the US. Plus the toll in Africa itself - even with PEPFAR.
I'm with you on "solving the solvable is easy" but would add one word: "solving the easily solvable ..."
The difference is slight but important.
As I like to put it, "there must be a reason why hard cases are hard." Some may be unsolvable and undetectable -- even with modern technology. But as the tools available have grown in extent, power and economic availability, it's demonstrable that the scope of the unsolvable has shrunken considerably.
As patients it's important to realize that having a hard case is going to be different than walking in with a running nose. It's a marathon rather than a sprint. And a key thing to be on the lookout for is objectively observable abnormalities - like blood tests - that can potentially bridge to and even explain the subjectively experienced problems.
But doctors almost universally could -- and really need to -- recognize the same thing: there's a reason hard cases are hard. And just on odds alone, having a rare disease or atypical presentation should usually be at or near the top of heap. So there's always good reason to keep an eye open for the possibility of a measurable problem as well as a diagnosable or treatable cause.
One reason I keep coming back to the rare disease example is because it's so well-studied as an area but also counter-intuitive. Yes, individually, each disease has to have 200,000 or less in the US, and for many it may be as few as 10-20.
But with an est. of, what, 7,000 to 10,000 of them, they collectively involve tens of millions of Americans. Look for horses first, but the equine world isn't exactly lacking for zebras. Especially in Africa.
It's unreasonable to expect any doctor to just light on the right one, especially on a single visit to an over-worked PCP. But there's plenty of room to more methodically approach each problem. And for both patients and doctors to strive for a better -- or even real -- partnership to try and advance the ball. Even when some hard challenges exist on both sides.
Even if it takes a year or three (or more) to do it right, that's a huge improvement on what's often decades with multiple rounds of diagnostic error and harmful treatments for those with problems. Especially when there's diagnostic disagreement between doctors, which I've never seen or heard of being handled well but have seen leaving too many patients left holding the bag. And then resented for it.
Lifestyle is important too, but it's often treated as an exclusive reason when it shouldn't be. As I tell some of the people I chat with, doing heroin isn't going to help move the diagnostic ball forward. (A little dark humor helps to get through...)
But the flip side parallels a line I heard from a hematologist: for polycythemia vera patients, they can try to eat their way out of their functional iron deficiency, but as long as the flip is switched on to always making too much blood, they can't do it. And so they'll suffer as long as it is untreated. Or until they go on Jakafi. (grin)
If a problem is recognized as life-threatening or devastating enough, the medical system often performs some amazing miracles (esp. with the best doctors). But it just as often struggles with the progressive medical problems -- whatever the reason for them existing in the first place -- until a person has lost key abilities to help themselves.
Ironically, I suspect part of the "problem" is that we've gotten so good at keeping people alive who had episodes earlier in life in which they would have died in decades or centuries past. I have personal reasons to appreciate that! But we should also probably be less surprised that many of those same people have unusual health problems later. (I get that the treating doctors are almost always different...)
A parting thought is that I'm not sure that it's appreciated just how wide the range of doctoring skills is out there. Just as with lawyers, a shocking number really suck. And even in specialty areas, the difference (persisting over decades) between say the best-performing and the average-performing cystic fibrosis center is shockingly large.
Plus, we're all human. Even the very best will make mistakes. The best way to minimize those risks is to be aware of them and to maintain epistemic humility even in the face of a patient whose every visit might be dreaded or a source of annoyance. Unfortunately, scars can run deep on both sides of the relationship.
The one sure way to make sure a problem is both unsolvable and untreatable is for both the patient and treating doctors to give up. But even if only one side or the other does, the result almost surely will the same. I just think there's both hope and good reason to think we can all do better. (grin)
"Ironically, I suspect part of the "problem" is that we've gotten so good at keeping people alive who had episodes earlier in life in which they would have died in decades or centuries past. I have personal reasons to appreciate that! But we should also probably be less surprised that many of those same people have unusual health problems later. (I get that the treating doctors are almost always different...)"
Indeed, antibiotics & vaccines have produced big evolutionary changes in the human genome in a remarkably short period of time, mostly because survivors now reproduce who never would have in the pre-antibiotic era.
Traveling through the medical system while coming from a background practicing law has proven to be an interesting experience. While there are many parts that work well -- usually for run of the mill problems like a broken arm or strep -- it does seem that doctors (individually and collectively) have difficulty squarely confronting their institutional holes and the damage that inflicts on millions to tens of millions of people in the US alone.
There's only about 400 medical systems in the country. Can anyone name one that has any practice group dedicated to trying to get to the bottom of difficult to diagnose and/or treat cases for the whole system's hard-to-diagnose or treat patients?
Take Mayo. They've got an internal medicine specialist group, but last I checked they don't have or allow continuing relationships to try and determine what's going on over any extended period of time. Nationwide, primary care isn't built to handle diagnostic challenges and I'm not aware of any real coordinating across specialties or even integrating what each might find in any system. Love to hear I'm wrong and why.
The closest might be the Undiagnosed Disease Network. It's a great idea, but over its whole existence it's just approaching 3,000 patients allowed in, resulting in a smidge under 800 diagnoses. Compare that against the estimated prevalence of rare disease in the US, which I've seen repeatedly estimated is something like 5 to 9% (i.e. something on the order of 15-30 million people) with 70-80% having a genetic basis.
The mismatch between that need and the current practical failure of the medical system to meet either the diagnostic or treatment portion of that need would be a good starting point for addressing the even broader challenges out there. I've mentioned this elsewhere, but is there any primary care physician who has anything close to 5% of their patient base diagnosed with rare diseases?
Stepping back a little, it's hard not to keep coming back to the fact that about 5% of the population accounts for 50% of medical costs. It seems obvious that a well-functioning system would try to ferret out as many of those 5% before they reach that point - recognizing car accidents and the like are also part of that group. But how many just get bounced around until it's too late to effectively treat the suffering or effectively reduce the cost of care? And is there any place in the system either focused on or incentivized to hunt them down?
Part of the problem is the rampant agency problems that afflict medicine, many of which are rarely, if ever, acknowledged and most of which seem to be handled in ways that would lead to discipline or disbarment for a lawyer. Failure to look at the system from the full range of patient diagnostic needs that we know it must handle -- which seems like a truly evidence-based and fully population-based approach -- also strikes me as a guarantee of widespread problems.
While patients often don't do themselves any favors, last I checked they aren't generally licensed medical professionals. Just looking at taking a personal/family history, I'm always amazed at all the literature and personally-related experiences in which doctors expect or effectively force patients to anticipate what's relevant. That's the exact opposite approach that a good interview should take in the law.
I'm confident that there are plenty of room for diagnostic improvement using current technologies and abilities, especially if physicians made a more concerted effort to leverage the ways patients can potentially help the doctor above and beyond, say, something important like not smoking.
But there also seems to be precious little space for having the necessary on-going conversations either within or outside individual medical systems. This substack is notable for making an effort, but the scope and nature of the problem really calls for more sustained opportunities and channels to work through both the challenges and potential improvements.
Personally, I think it'd be fascinating to learn about a system with a diagnosed rare disease patient base that approaches the estimates or hear from doctors regarding how their own patient bases match up against those rare disease estimates. And the effort to grapple with any aspect of diagnostic challenges which tie together weighty epistemic issues with similarly deep methodological, practical, and other issues is also appreciated.
DX “ I don’t have a specific diagnosis for you today buts let’s talk about what might help you deal with these symptoms right now and help you until another Doctor perhaps who is smarter than me and can find an answer. “
Gerald M Casey MD
Here's my unseen diagnosis: possible gut related problems. What is her diet? What are her stress factors? Has she had any vaccines or mRNA injections? What drugs is she taking? Of course, her problems are not going to be solved in the ER or with any drugs. Just giving out prescriptions without a clue as to the problem is why I avoid mainstream medicine.
AMEN!
A big reason why people with chronic, diffuse symptoms will go to the ER is shear anxiety. I've seen many patients who have a history of frequent ER or UC visits with various symptoms. Many times (after seeing them for the first time and establishing care as PCP), I'll think we'll be doing lots of tests, need to try medications, etc. I've been surprised about how many come back the next couple times and when I suggest considering medication they say "I don't need it! I feel better just knowing I have someone who I can see and will listen to me".
When someone is left alone with their own symptom-focused anxieties and fears, having no other support or input, going to the ER seems the only thing to do. They at least get reassurance they are not dying.
And the range of human mindset is varied. Some will respond extraordinarily well to a good relationship with PCP and not need further ER visits. Others are still more difficult to calm and will still do the occasional ER visit. It can be a long process. The underlying coping skills, psychosocial support, mental health diagnoses, etc of each person factors in.
I do believe that some people have medical issues that we cannot diagnose. My approach has been to do my best with reasonable evaluations/testing/treatment trials/referral to specialists - sometimes an uncommon condition is finally discovered. But sometimes you just don't pinpoint or solve the problem. And I feel comfortable telling a patient that whatever is causing their symptoms is something we can't label or cure, but we can try to manage symptoms. And many accept that.
The ER truly isn't the place to "solve" the problem, but as pointed out here, general compassion and an understanding that this is a manifestation of anxiety can remove some of the frustration or anger felt on the physician's end. Trying to keep the evaluation focused and avoid extensive repetitive testing is ideal, but the ER is not the place to truly parse that. It does come down to establishing a trusting relationship with a PCP. Not every PCP is up to this challenge and, unfortunately, current medical climate does not foster or acknowledge this and continues the focus on the 15 minute appointment, where speed and "productivity" are demanded and financially rewarded.
As a neurologist, I’ve come across many of these often diagnosis-less mystery illnesses over the years. The ER isn’t the place to unravel years-long diagnostic dilemmas.
It is definitely not the place to unravel chronic illness, but many of us have a diagnosis that doctors aren't familiar with, so better education would help. It also helps when staff listen to us as we know our situation better than anyone.
Triage. The Emergency Room is no place for this.
Agreed. Dr. Milyavsky is in the Emergency Department. The patient is already plugged-in to the medical system. There is no acute issue that he's identified. Treat 'em and street 'em.
As I am a psychiatrist, these sorts of pts. were referred to me, b/c the referring physician, thought they were “crazy.”
They were plagued by after the fact depression and anxiety but it seemed to me they were particularly bothersome b/c they reminded the dr. of his/her “failure.” A lot of the time, they made no bones about it—“this person is crazy” often in the pt.’s hearing.
It is highly likely that this pt. was seeking a compassionate interaction with a non-psychiatric physician. Sorta like beating her head against a wall, but there’s a determination that this dr. WILL understand that her sx aren’t due to prior mental health issues.
I have a sister who undoubtedly presented in a similar fashion. She is a molecular biologist and a lawyer, and even so, she wasn’t taken seriously. She was right about her sx.
She had many sx due to a pheochromocytoma that was removed when she was 9. In her 20’s, she suffered from a bowel strangulation due to adhesions.
She developed Addison’s Disease b/c along w/ the tumor, her L. adrenal gland and kidney were removed. Yeah, the other adrenal is supposed to p/u the slack, which it undoubtedly did for 10-15 years before decreasing or stopping its actions.
4 ft. of small bowel were removed in the operation to treat the obstruction, which over years led to vitamin and nutrient deficiencies.
Pretty much all hormone related body activities have been affected. The latest non-adrenal hormone affected has been the thyroid hormone which led to hypothyroidism.
She backs up her help seeking with sx specific research. She has never been crazy, but she has been after the fact anxious, depressed and angry.
Any dr. faced w/her could justifiably become angry,despite the fact that she is kindly and patient in her interactions and uses a low voice.
I think a dr. in this situation should, of course,implement any therapies or consultations that haven’t been done. But in the absence of that, a compassionate review of what has been done w/ the results can lead the dr. and pt. to the obvious conclusion. The dr. then may say , “I don’t know how to help you further, what do you think?”
Chances are, if she’s like my sister, she’ll concede the point. The dr. can always add something like, “There probably will be new developments in the future, we’ll have to see.”
I had the bright idea of combining acupuncture with psychiatric interventions, but I wasn’t able to try it due to early retirement b/c of illness. In my next life, perhaps I will! I thought in addition to psychotherapy and medication, it would address the issue en pointe, literally.
you are a wonderful sister!
Someone like your sister needs a caring, compassionate doctor who, if all he did were to listen and not necessarily offer a fix (pill) would probably give her real consolation. I have chronic pain and the director of the pain clinic I've been going to for many years didn't have ready answers at my first visit, but was so real and so honest that it was a comfort that's hard to describe and helped me shoulder the load. I no longer felt alone even if I still felt pain
Very often people are seeking care, the feeling of being seen and looked after. When you feel crummy you want someone to take the lead and make it better in some way. As healthcare providers that is fundamentally our job. Obviously accurate diagnosis and treatment are part of it but if you don’t feel cared for- that wont do the trick. I have been a nurse for 29 years and my most important tools in making people feel better are juice boxes, cups of tea and an offer to hear their story. Ten minutes and a few tears or laughs later, and they feel better (was that not the goal?) and ready to hear what I or the doctor are saying. Often what they needed most was someone to bear witness to their suffering. Because they feel heard they reveal much more, often giving you the tidbit of information that makes the diagnosis much easier.
This process of taking the lead and looking after someone also impacts those of us doing it. You Understand that you are their best bet in this moment. Feeling your caring with the power you hold in that moment- renders you the most creative you can be- you are the answer for this person right now- what can you employ to identify their issue and make it better?
As humans, we are literally designed to exist in families and communities of cascading care. When someone presents their vulnerability to you, your most beautiful human instincts should lead you to take the lead and look after them- how to look after them will become obvious when you start from there.
Thanks for the thoughtful article.
I think I love you!
Since this was a known issue for this patient why did she present at the ER? You never said if it was pain or something else. I would doubt if she's been thru the doctor mill, as you said, she was looking for an ER doc to do a miracle.
Now retired, but I once was an emergency doctor, and have done 40 years of family practice.
I wonder, when I read a clinical scenario like the one you describe, what the patient herself was hoping to accomplish in coming to the emergency department. What was the emergency? She’d had the problem for years, had tried various therapies, no doubt had undergone endless testing, and was awaiting a (more likely another) specialist assessment. What hope was there that you would figure it all out, when nobody else had?
Put another way, you were thinking she wanted a diagnosis. She probably had another goal in mind, maybe compassion, maybe a brief respite from her symptoms, who knows. Sometimes I would simply ask the patient what they hoped to achieve when they came today. The answers often surprised me, in that what they wanted was quite realistic, often fairly basic, and easily provided.
I wrote my comment before I read yours but totally agree.