Diagnosis on Netflix

[indigokid]

If you haven’t started watching this yet...it’s fabulous. A doctor/journalist who wants to find the answers to chronic illnesses and uses crowd knowledge to do it (just like we do here).

Warning: you will probably blub at every episode

 

[Wolfcub]

It's interesting you mentioned that @indigokid I saw that yesterday. My concentration last night was dreadful so I decided to watch another time.

You have helped me now because the write-ups, telling us what it's about, on Netflix are too brief and not good, and I was wondering what that series was like.

 

[wabi-sabi]

I just finished bingeing on this and was wondering about people's take. It was quite addictive if nothing else.

Some people appear to receive a definitive answer to their health problems- others, not so much. In some cases there doesn't seem to be a answer- medicine isn't an exact science and there is much about the human body that we do not yet understand. But sometimes people don't get an answer for the exact reasons we all experience- patients (often women) are disbelieved, labelled as untrusting of the medical profession when they quite rightly refuse to accept a psychosomatic diagnosis.

This show is particularly interesting because it's trying not to pawn people off with a psych diagnosis for a non-psych disease, and yet it still manages to do so for at least two of the participants. I find that quite telling about the state of medical culture in the US.

The most heartwrenching for me was the two participants who got "functional" diagnoses, which is really just a fancy term for all in your head when you refuse to accept it's all in your head. (I'm not talking about functional medicine here, which is a whole different kettle of fish. I mean when people say IBS is a functional disorder). My snarky definition of functional disorder is: “this is a psychosomatic illness, but you dear patient, are so lacking in emotional self-awareness and personal insight that you don’t realize it’s psychosomatic”. Usually followed by a condescending speech on mind-body interactions which is code for "your having an emotional problem, but you're so out of touch with your emotions that you can't discern that for yourself".

Just because some of us have just cottoned on to the fact that emotions effect one's physical state (I'm looking at you, any healthcare provider that's ever given a functional diagnosis!) still doesn't mean that organic diseases are in people's heads or that any disease for which you cannot identify a cause is created by emotional disregulation!

The show inadvertently illustrates this quite well, they're just not aware of it. This could be a spoiler- watch out! There's one man who's health problems really are caused by untreated psych stuff. He gets better when given a psych treatment! Then there are the others (women) who are given functional diagnoses and rightly reject them and get slightly cast as problematic patients. It's quite obvious the patients are branded as problem children because they don't accept a diagnosis.

Yet the show isn't meta enough to be able to see the difference between someone who has untreated psych issues and people who don't and the reactions these people get from their healthcare providers. I think that's what I like most about the show and what I find the most distressing at the same time. It quite clearly demonstrates the problem it is trying to solve, yet is unable to truly recognize and grapple with the problem. Our healthcare system in microcosm.

Thoughts?

 

[indigokid]

I totally agree with your psychosomatic summary. Couldn’t have put it better actually. It was saddening to see that gulf war syndrome is still going on and the difference in individual insurance policy health care provision vs collective negotiation was eye opening without banging a drum.

Generally I thought it was very well done and binge worthy!

As a man I have to say though that men are also disbelieved on appearing at any doctors office and often the shame of appearing weak or a burden stops them going for care in the first place.

My dad died at 54 from doctor shaming and in the last decade I have had doctors trying to shame me for expecting diagnosis and treatment for some quite serious illnesses, if I hadn’t ignored them I would very likely be dead or severely disabled. My ex would have also died in child birth and my son kidney failure at 6 months.

What really stood out is how accurate diagnosis isn’t really a key doctor skill - when it really should be. That and the sheer power of the internet!

It’s also made me look at becoming a patient advocate. I never knew it was a thing!

 

[wabi-sabi]

@indigokid Being a patient advocate is a wonderful idea!

And it is sort of amazing that diagnosis isn't better taught, especially about how to get past cognitive bias and rigid thinking. When I say bias here I don't mean our usual prejudices and -isms, but just the ability to see beyond our own noses to the unexpected. So the patient's symptoms don't fit any disease you know? How do you go about figuring out that puzzle rather than just throwing up your hands? Figuring out the puzzle is what diagnosis is- surely it's a skill that can be taught.

 

[wabi-sabi]

I just came across a book called "It's All in Your Head: True Stories of Imaginary Illness". It's about functional neurologic disorders, written by a neurologist. There is, of course, a chapter on ME/CFS. If we need any further proof of what most people mean when they say "functional".

 

[indigokid]

@indigokid So the patient's symptoms don't fit any disease you know? How do you go about figuring out that puzzle rather than just throwing up your hands? Figuring out the puzzle is what diagnosis is- surely it's a skill that can be taught.

You’d have thought so. One of the best things I was taught for this was very simple, ask the question: « is there an alternate hypothesis? »

And then ask again

 

[indigokid]

Ooh, I’ll check that out. Sounds good.

 

[Sushi]

I just discovered this series and am finding the concept and the stories fascinating. I am going to tag @Gingergrrl because episode 4 is (drumroll!) about a child with a very rare calcium ion mutation that causes her muscles to shut down countless times a day—she just goes limp. If I got it right it is KCNMA1.

 

[Wolfcub]

I have watched 2 and 1/2 episodes so far.

It does seem that input from all over the world is helping to widen the "detective work" needed to find a diagnosis when one is not obvious.

I feel many doctors are not willing to become medical detectives. And the right diagnosis is more a question of detective work than anything else. A way of lateral thinking....asking the right questions....and importantly -listening to the patient !!

 

[wabi-sabi]

@Wolfcub Having watched all the episodes (it was a highly addictive show!) I felt that it changed tenor partway through and I'll be interested to hear if you felt the same after you're done. The first couple of episodes were straight up mysteries that needed solving- people with defied diseases, but just so rare that many docs hadn't seen them before and then could not recognize what they had never seen. Happens to many of us when confronted with something new and strange.

But about partway through the show switched to people and problems that didn't fit any established paradigm, no matter how rare. In this land there are no clear cut answers and no definite answer to the question "Why?, Why am I sick?" Because the honest answer is that medical science just hasn't progressed far enough to tell us. This is where it transitioned to diagnostically grasping at straws and venturing into the land of the "functional". This is where unspoken assumptions about causality come out.

If medicine at one point believed that all disease originated in the body, it has just rediscovered the mind-body connection, and is now transitioning to thinking unexplained disease originate in the mind. (I'm not talking about mental health here. Psych diseases are very real, very painful, and still not the patient's fault.) Obviously the mind and body are connected in subtle and complex ways and are not at all well understood. We don't even know if the mind is a product of the brain, the CNS, the CNS and other parts, the body as a whole, or an emergent property. Extrapolating from this lack of knowledge to a functional or BPS paradigm for disease causation is problematic. Not least because these explanations are inherently patient blaming (If you'd only managed your stress or dealt with your trauma...) but because these explanations blind their proponents to the fact they are patient blaming. This is what I find most infuriatingly frustrating. But it's in this realm of diagnostic uncertainty that these unacknowledged and unconscious biases come out.

And come out they do in Diagnosis, as soon as it wanders into this confusing and vexed territory. Honestly, I think this is where most of medicine is going to live, so we'd better develop a better roadmap than BPS and functional explanations. They're about as effective as drilling a whole in your head to let out the evil spirits.

 

[Rufous McKinney]

It does seem that input from all over the world is helping to widen the "detective work" needed to find a diagnosis when one is not obvious.

I just watched the first episode and found this outstanding. (as I watched it, WHY? are you climbing the hill that sends you to the ER?; and if your urine is black, you can at least enjoy not being told its psychosomatic.)

To me this is total evidence that the system of health care in the US is entirely broken. So go find competent doctors who actually: examine the patient carefully- Go To Italy.

Im in a foreign country right now and the medical folks we have sampled so far are highly competent.

My current regret: I should have gone to the local rumored doctor HERE who is expert in autoimmune and metabolic disorders. I bet I'd have gotten actual real lab tests with answers.

But soon I return to the US, where No Real Tests happen.

 

[wabi-sabi]

Oh yes, the poor girl with the rhabdo. I so wanted to tell her to stop going hiking and rest, because it brought on such pain. I can certainly understand being devastated by the way disease shrinks your life from what it was and what you want-but to hurt yourself to try to overcome an illness? That can't be overcome that way?

This is another one of our harmful cultural myths- disease is a battle that can be fought and won if you just try hard enough. Look at the way cancer is so frequently conceptualized as a battle. I wonder if that metaphor really helps people with cancer. It's certainly one of the driving metaphors behind GET (other than our basic laziness and our refusal to admit that we are lazy malingerers).

I want to conceptualize disease as something other than a battle, something other than a foe that can be fought and overcome with enough effort. In my experience that mentality is ultimately harmful. The disease is lodged in our bodies after all, and fighting it (like that poor girl) means harming ourselves. I'm trying to think of disease as a house guest I would rather not have, but one that seems to be sticking around for awhile so we need to find a way to get along.

 

[Sushi]

I have now watched all the episodes and agree that the earlier ones where clear diagnoses were found were a lot more heartening. But at least tilt table tests and POTS got an airing in front of a very large audience in the episode where the young guy’s heart kept stopping. But, ending that episode with him improving through psychotherapy, while it did improve his daily life, still left unaddressed why his heart would pause for as much as six seconds in the first place. Having been a “pauser” myself, I’ve learned that there will be an underlying substrate of some sort that would allow stress to cause such pauses. I felt concerned that this wasn’t addressed even though his symptoms improved with psychotherapy.

As far as:

But soon I return to the US, where No Real Tests happen

my experience is that this is not universal. Maybe I’ve been lucky but I have had some very thorough and intelligent testing and treatment in the US, even though ME/CFS is still largely a conundrum.

 

[Gingergrrl]

I just discovered this series and am finding the concept and the stories fascinating. I am going to tag @Gingergrrl because episode 4 is (drumroll!) about a child with a very rare calcium ion mutation that causes her muscles to shut down countless times a day—she just goes limp. If I got it right it is KCNMA1.

Thanks for tagging me and the show sounds interesting. I have not seen it but I used to watch "Mystery Diagnosis" on Discovery Health before that channel shut down and this sounds similar.

My understanding of my own case is that I don't have a calcium ion mutation (genetic) versus an autoantibody that attacks specific calcium channels (called N-type channels). I definitely had muscle weakness & muscle fatigue as a core symptom that was worsening and progressive until finding the right treatments which were autoimmune treatments. Luckily my muscles never shut down completely and I never experienced paralysis but I do wonder how much worse it could have gotten without treatment

Do you remember from the episode what the proper treatment was for the little girl (since hers was genetic vs. autoimmune/acquired)? I'm tagging @Inara who is also interested in calcium channel issues

 

[wabi-sabi]

I don't think she got any treatment yet- they just found a scientist who was working on the problem and other families going through the same thing.

 

[Sushi]

Do you remember from the episode what the proper treatment was for the little girl (since hers was genetic vs. autoimmune/acquired)? I'm tagging @Inara who is also interested in calcium channel issues

Right, her family and doctors had never seen a case like her and the internet responses revealed a researcher who was studying that SNP and (if I remember correctly) the promise to treat her with any new drug that was developed. It also put the family in touch with other patients with the same SNP and one patient in Denmark with exactly the same symptom manifestation. That child was a few years older and his symptoms had progressed. The mother and daughter flew to Denmark and shared information and experiences with this child and his family. Upshot: no treatment yet but the support of being part of a community that was dedicated to searching for answers.

 

[Gingergrrl]

Right, her family and doctors had never seen a case like her and the internet responses revealed a researcher who was studying that SNP and (if I remember correctly) the promise to treat her with any new drug that was developed.

Now you are making me want to watch this show (or at least this episode!!!)... do you mean that it was random people on the internet (vs. a doctor) who found the researcher who was studying that SNP? That is amazing, but not surprising, and Phoenix Rising is how I found my main doctor and a private group on FB is how I found my MCAS doctor. The info and support that I have gotten from the internet has literally been invaluable.

It also put the family in touch with other patients with the same SNP and one patient in Denmark with exactly the same symptom manifestation. That child was a few years older and his symptoms had progressed. The mother and daughter flew to Denmark and shared information and experiences with this child and his family. Upshot: no treatment yet but the support of being part of a community that was dedicated to searching for answers.

This is also amazing that her family could connect w/a family in Denmark with a child with the same rare mutation. The calcium channel autoantibody that I have is not rare like that (but at the same time, it is not common either). Some doctors are completely unfamiliar with it (which is odd to me) but most know that it often associates with LEMS or Small Cell Lung Cancer (SCLC) and can be part of a paraneoplastic syndrome if cancer is found (which it was not in my case). I did lung CT's for 3 yrs and my doctor feels it is not necessary any more b/c no cancer was found and I am dramatically better from treatment (which would not be the case if the cause of the autoantibody was cancer vs. autoimmunity). Some doctors say to do the lung CT scans for 5 yrs, but we felt that three was enough (b/c it is so much radiation ).

 

[Sushi]

Now you are making me want to watch this show (or at least this episode!!!)... do you mean that it was random people on the internet (vs. a doctor) who found the researcher who was studying that SNP? That is amazing, but not surprising, and Phoenix Rising is how I found my main doctor and a private group on FB is how I found my MCAS doctor. The info and support that I have gotten from the internet has literally been invaluable.

The Yale doctor writes up a mystery case in the New York Times magazine. People from all walks of life, all over the world, see it and respond through some sort of video chat. Some are doctors or Ph.D researchers, some are patients, veterinarians, housewives—anybody. They cull the responses for the most likely and interact with them through Skype. The researcher, in this case, read the article and responded. Members of a patient Facebook group also responded. The patient and their family go through the responses too. It is an interesting idea to crowdsource diagnoses as it reaches similar patients as well as doctors and researchers.

 

[indigokid]

On the psychosomatic thing, has anyone here ever been accused of being a hyperchondriac? Or as Doctors put it these days "The patient appears to be suffering from hyperchondriasis".

I ask simply because this show got me thinking of it again. My doctor "wondered" if that might be the cause of my repeat visits demanding answers as opposed to the actual diagnoses we had and his or anyone else's lack of treatment.

As usual I called his bluff, looked up the science, did what it asked, which is: differentiate sensations from symptoms and then rule out any underlying conditions.

Also 4-6% of patients are supposed to be hyperchondriacs. However, I can't find any study that shows whether these statistics have ever been tested against mis- or non-diagnosis.

I did get hold of a recent NHS internal document that says 10% of all patients are diagnosed but untreated. It has made me wonder whether that 4-6% are part of that 10%.