A real Dr. House, or did this physician benefit from prior studies?

A family physician diagnoses an ependymoma from listening to a patient.

That’s an incredible diagnosis and kudos to the doctor, who wastes no time in patting himself on the back: “By the time I saw her it was very clear.”

Doug Farrago however is more skeptical, and wonders if the 5 months of prior studies, including a referral to a gastroenterologist and endoscopy, might have helped in ruling out more common reasons that can explain the symptoms.

Sensationalizing extremely rare cases may encourage doctors and patients to overreach, ordering expensive scans to find that needle in the haystack. That’s fortunate for the patient in this story. But I doubt that the “zebras first” mentality is the best approach for all doctors to take.

topics: rare, zebra

Comments

Dr. Matthew Mintz
Thanks for this post. This article is part of a series in the Washington Post called “Medical Mysteries.” They reinforce ideas (as you point out) such as more testing is better, to keep questioning your doctor since they miss stuff all the time, and the common symptom you have is likely some rare disease. As someone who practices in D.C., this series drives me crazy!
SarahW
Well of course the normal studies helped. The not paying attention to her not getting better and ascribing all her symptoms to “stress” is what you OUGHT to be paying to as the message of this story.
Ignored was one very significant symptom – the nausea WITH positional changes in the morning. If that part had ever been heard or asked about before, it was assigned no significance.
The patient’s own course points to the zebras. A worsening course with continued weight loss, cognitive changes, Hiccups? Trouble swallowing ?Shoehorning patients into ill-fitting diagnoses because most patient’s aren’t zebras is bad medicine.
David
Of course it is excellent to find the rare diagnosis – but we can’t be too hard on the other treating physicians. As we all know, cancers grow. Initially mild symptoms get worse and worse over time until it becomes obvious to anyone that ‘something else’ is going on. A patient who has progressed to the point of staggering (ataxia) and has difficulty swallowing, combined with intractable nausea, is highly suggestive of a neurological diagnosis.
What I find interesting is that perhaps once a week I will hear a patient or family member belittle another physician with the most crude negative comments such as “he almost killed her” or “my mother won’t go back to see that doctor – ever since he placed her on (medication x) she has a tremor” or “he was ordering tests that made no sense”. Often I find the physician did nothing at all wrong and I find myself in the strange situation of defending the actions of a physician that I don’t even know, just to make reality clearer to the family. While physicians are held to the highest standards by the public and lawyers, many families evaluate them with reckless carelessness.
Robin
Pardon me while I take the comments a bit personnally. I am a zebra(Cushing’s Disease) who was misdiagnosed for over 20 years by countless doctors. I quit cutting them any slack. When I became assertive and a self-advocate, I was finally tested appropriately. Yes, there was a tumor and yes, by that time I was very, very sick. I still deal with the intense anger I have because of things in my life that I’ve lost due to the side-effects of this disease. And I am not naturally an angry person.
It’s not about zebras and hoofbeats and horses and such. It’s not about standards. It’s about lives. Honest, hard-working, doing-everything-right people who are treated piecemeal. It’s about doctors who stereotype and don’t listen. It’s about the need for everyone to quit talking about what is wrong (and right), quit throwing blame here and yonder, and actually DO SOMETHING.
David
Robin – I don’t know anything about your situation other than what you just wrote. You may have indeed been ignored, not treated seriously by a physician or physicians who was (were) asleep at the wheel.
And there is more. If you were mainly evaluated by primary care physicians, your physicians may have been under intense time-pressure and therefore didn’t take the time to listen more carefully and think “outside the box”. For more on this, see “How primary care prevents you from being a real doctor” (http://www.kevinmd.com/blog/2008/11/how-primary-care-prevents-you-from.html)
If you want to get a glimpse of better medicine, investigate MDVIP, SignatureMD and there are others. I am not a member of these organizations, but as a specialist, I often get referred patients from these types of practices. These ‘concierge’ or ‘retainer’ type practices are laughed at for being frilly ’boutique’ practices – but I can tell you from my perspective that they offer the kind of time and attention to detail that might have served you well.
Why can’t all practices be this good? Most of them cannot afford it. Just to keep their practices afloat, they must see 30-40 patients in a day.
Robin
Hi, David. Thank you for your kind response. I’ve read about the PCP shortage and just about everything Dr. Rob, KevinMD, and others have written as well. I’ve written about it several times on my blog from the patient perspective. I appreciate their candor, especially Dr. Rob’s.
I understand your perspective and that of the PCP. But I’m not talking about a few instances or one locality. The numbers of us (Cushing’s patients in the U.S.) who have been treated the same as I is overwhelming. It’s staggering. Multiply this by the number of other possible patients with other diseases or problems, and the numbers of misdiagnosed or ignored patients are probably huge.
I’m carefully trying to avoid blame with my statements and my blog writings. However, I want a solution and no one seems have one. The PCP’s and specialists each have a side, both pulling in a tug of war, and the patient is left in the mud in the middle. No one seems to actually be doing anything other than talk. Talk is cheap.
I am willing to work proactively with my anger in a positive way rather than blaming someone. Therapeutically and realistically, its the best thing to do. I just don’t know where to start or what to do. I’ve asked the medical blogworld to use the large patient base that is available. I don’t see it happening, but perhaps I’m not looking in the right place.
As for better medicine, I travel across the continent and pay out-of-pocket so I can have it. It’s worth every penny. I just wish I had known enough to do that 20 years ago.
David
Robin, What an excellent website you’ve created! It is really a nice idea to ‘herd’ together the zebras and thereby create a larger community.
Physicians get conflicting advice, of course, regarding this topic. We are put in a position to feel that we are responsible for ‘knowing it all’ and therefore, feel bad if we miss a ‘zebra’. On the other hand, there is the hoof beat and horses quote – the reminder to focus on the more common diseases and not to waste time (during initial evaluation) focusing on very rare possibilities. Indeed, we are also reminded that an unusual case is more likely to be an unusual presentation of a common disease, rather than a rare disease itself.
But this is medical school and residency stuff. Most practicing physicians learn that on the repeated presentation of a patient who has had no answer and still suffers, a more thorough look for answers is required. How many times have I sent patients for expensive or invasive tests – with only a dim possibility that anything would be discovered. Very rarely (but rewardingly) I have discovered an answer in this way. But even as a specialist, I think my biggest obstacle to thoroughly investigating some cases is simply having enough time to do so.
So what should you do? I guess it depends on your exact goal. Providing patients with a forum is helpful. The internet itself is helpful in dispensing useful information for patients.
I also believe that the ‘third-party payor’ system is at the heart of the problem. Medicine has been warped by this system in which insurance companies and government entities have decided to pay for things in a certain way. For example – by paying the same amount for a certain diagnostic code in the hospital (DRG), the hospital is rewarded for rapid discharges and will lose money the longer you stay in the hospital. This means that the more complicated cases get short shrift. By paying physicians by the office visit (not for time spent) the physician’s office is pushed to see many patients in short visits – which works well for uncomplicated patients and is a disaster for the rare of complicated patient.
So… if you truly want to benefit the entire system (I know this is not motivating because it is daunting) you would want to get rid of this system by promoting Health Savings Accounts, a change in the tax code so as not to tie one’s insurance to one’s job, a freeing of health insurance companies to offer ANY product they like (not just what some government entity tells them they must offer) – including catastrophic care only, the elimination of the government as a large purchaser of health care (Medicare and Medicaid) since by buying it they greatly control the market, the elimination of the FDA as the controller of medicine (allowing them to dispense advice, but not control the sale of drugs), etc, etc.
Medicine is a massively controlled third-party system with limited freedom – which I think leads to the loss of focus on the patient.
Robin
I appreciate the time you have taken to give a response. So will others in the “Cushie” community. And hopefully other zebra communities will, also.
“Indeed, we are also reminded that an unusual case is more likely to be an unusual presentation of a common disease, rather than a rare disease itself.”
Yes, true, but with Cushing’s (and I believe other “zebra” diseases), we are more an conglomeration of usual presentations that are treated piecemeal rather than taken as a whole which should give a physician an “aha” moment. Frankly, Cushing’s patients can spot an “Cushie” a mile away, and our group has been proven right over and over if those persons chose to pursue the rigorous journey for testing and diagnosis. It’s not for the faint of heart, nor is it something that even a well person tolerates easily. The alternative, however, is sobering.
“But even as a specialist, I think my biggest obstacle to thoroughly investigating some cases is simply having enough time to do so.”
How would you feel if that excuse was used on someone you loved? On you?
You mentioned a forum. Mary O’Conner had Cushing’s in the 80′s with no support whatsoever, no help, no information other than what she gleaned at her library. Thanks to her hard work and dedication, she founded the cushings-help.com website and message boards, which she still single-handedly runs with it’s thousands of members. Without those message boards(forums), many of us would be dead or suffering with the disease. It’s strong, vibrant, and supportive community. We know how to test, where to test and when to test due to that. We know who the specialists are (and I don’t mean those who profess to be, but those who actually practice like they are), and they know us.
As for the internet, I did a reader’s take for KevinMD a while back on that very thing. I fight that battle with doctors constantly who say I “read too muc on the internet” as if they are the only smart folks in the world. I hate to break it to them, but not all of us practice medicine. It doesn’t mean we can’t learn.
As for the third-party payor system, I’m very familiar with that, too. I’m a fiscal conservative, and I would very much love to choose how and where I spend my money, since I now have to spend it where I’m told, plus spend out-of-pocket because the “where I’m told” isn’t cutting it. Thank you for mentioning that. I agree with and understand what you are saying regarding the reimbursements/payments. It’s not unfamiliar to me.
So, in a nutshell, those who are so sick are the ones who need to see the most change, yet we have the least energy and fewest “spoons” (see the spoon theory sometime) to do what needs done. But, we are still willing to try. That’s why I ask what I ask and say what I say. If nothing else, it starts the dialog.
Our blogs, including the two with which I’m associated, are to help those on the same path as we have been. Even more, they have a second objective: to hopefully make more folks in the medical community aware that we are people who suffer when we aren’t tested, diagnosed, and treated correctly. Finally, it seems they are also being used for a third objective with the need for change in our healthcare payor system. This was not an intended objective, but I’m realizing it comes with the territory of the other two.
Again, I appreciate your openness and candor. It’s refreshing.
SOwens
I went for two years with a diagnosis of stress. My true diagnosis, Cushing’s Disease. I had exactly one 24 hour urine during those two years. When I was once again tested, twice in a row, my tests show Cushing’s level. Then starts the other testing. They refuse to believe the tests.
It took another 20 months before I was to get an official diagnosis. I have over 50 positive tests for Cushing’s. I have pathology proving that I have a acth secreting pit tumor. Yet, when I go to places like University of Penn Hospital, I hear things like “sleep apnea”, “overweight”, or stress. Testing be dammed. Pathology be dammed. Doctors reading material sent to them weeks in advance for an expensive out of state visit be dammed if truth be told.
We see it everyday in the Cushing’s community. It isn’t isolated to one part of the country. I am willing to bet it isn’t isolated to one orphan disease process. The problem is the mentality that it is to rare and it can’t happen to my patient. It starts there and gets worse when you add in insurance, hospitals, lawyers, and multiple doctors.
judycolby
I think a lot of the problem with “zebra” diseases is what is taught in school.
“We are also taught in medical school that when you hear hoof beats then you should think horses, not zebras.”
Personally, I think there are a lot more zebras than most doctors think. but statistics can only come from diagnosed patients not symptomatic patients.
I also come from the Cushing’s community (two children and a husband with Cushing’s) and know firsthand what Robin talks about. There are a lot of specialists who dismiss us – because it is too rare.
I’m guessing most rare diseases get the same treatment.
Anonymous
MDVIP is no assurance of quality, IME, which is why I dumped my MDVIP physician after wasting $1500 on a lazy doc who just wanted a guaranteed income stream. I don’t need coffee and cookies in the waiting room, I need an attentive, detail oriented partner and health advocate.
I’m sure there are physicians who join concierge medicine to have more time to devote to quality patient care, but upon reading the contract, talking to MDVIP reps, I’ve discovered that they’re doing nothing to assure that’s what you get. MDVIP sent me another client’s personal info instead of my own when I joined, too. When I called, I was informed, “oh, yeah, we mailed a lot of them to the wrong people recently.” :-/ This is a sales operation, not a quality of care service.
I found a far superior and deep thinking primary care physician by researching PCPs in a 20 mile radius on ratemds.com, which I highly recommend over MDVIP.
I’m a zebra, too, but honestly, we all are becoming zebras as consensus guidelines that ignore complexity become the rule, making clinical diagnostic acumen extinct and, often, punishable as outside the community standard.
Anonymous
By my observation, medical school has failed to teach doctors genuine analytical skills. What kind of analysis is “guess its the most common thing?” And the problem without considering a wide range of potential answers at the beginning of the process, is the well known human tendency to believe that your own theory is right. So when the patient doesn’t recover per plan, the doctor gives up and blames the patient. The far superior analytical rubric is to get a good idea of the range of potential issues and do such tests as to validate and eliminate the range. Not everything requires an MRI — blood work and a good history can do a lot. It’s not just what the doctor knows (and a lot of doctors know alot less than they think) its how well can you engage your brain. And if you practice using the “horses” paradigm, you aren’t engaging your brain at all. Your NP is probably a more cost effective provider if that is all that you can provide.
Quite frankly, I think that anyone is a fool if one doesn’t go on the net and figure out what is wrong for oneself before going to the doctor. The only way to get the doctor to do what needs to be done is to understand how to set the symptoms out on a silver platter for him to “figure out” and think himself a genius. Woe to those who actually do need tests to figure things out.
Anonymous
Would you trust your money to a broker who only considered what he/she thought was the most likely outcome for an investment, not all outcomes?
Would you be happy flying with a pilot who, upon having an alarm go off, reacted based only on the most common cause of the alarm?
Would you want an engineer builing skyscrapers who only factored in the most common failures?
In short, why does the medical profession consider it acceptable to consider the most likely risks, and not the range?
Thank you Dr. Mintz — do you post a warning on the front of your door to your patients — “I only treat common illnesses.”
Anonymous
I don’t know why doctors blame insurance so much. If people had to pay out of pocket, trust me, half or more of all specialists would be looking for employment elsewhere. You all get alot more money with the insurance system than you would without it.