Anecdata, but... I personally know so many missed cases (from “mundane” cases like mono, to the more serious cases like neuroblastomas) that were diagnosed by googling or a guess from a Med student after being dismissed by a specialist, that leads me to suspect the problem is inherent, rather than the occasional miss.
if the patient had been seen by a dermatologist I would be surprised if this would have been missed.
I was diagnosed in my mid thirties with a genetic disorder. It is a more recently recognized milder manifestation of a well known condition. Prior to that, I was basically treated like a hypochondriac and routinely accused of being lazy.
I have read a bit about the difficulty in getting a proper diagnosis. It is routine for people to get treated like they are nuts because the doctors do not immediately have the answer. This winds up being incredibly threatening. It puts you in a position of fearing for both your freedom and your life if you keep talking about your symptoms and keep trying to find an answer, while knowing that not getting an answer may well kill you.
When I had been on antibiotics for several weeks straight with no diagnosis, I expressed my concern that I could die if they couldn't find the answer. The doctor asked if I would like a psych referral. My legitimate concern that I could die in the face of being deathly ill and doctors failing to readily diagnose it was treated like I was merely being neurotic and needed therapy.
Doctors frequently do a terrible job of identifying anything that is at all obscure and they treat patients in a way that makes it both very challenging and genuinely threatening to even try to get a proper diagnosis. I did all in my power to not wind up hospitalized because I was relying heavily on home remedies, like hot baths, to keep my symptoms down to a dull roar. I was convinced that ending up hospitalized would deny me the ability to do that and would be the death of me because doctors can be such assholes at times.
After finally getting a diagnosis, I began growing stronger and healthier. I had always been sickly and did a lot of self care. I now had an explanation as to why I was always sick and it was very empowering.
People with my condition typically get regular checkups with a specialist four times a year. As I grew stronger, my doctor began scheduling me fewer checkups and expressed zero curiosity as to how on earth this was happening when it is supposed to be impossible. When I moved because I was getting divorced and could not afford to remain in California, I did not bother to try to find a new specialist. I can manage my condition better than a doctor can and I didn't want the hassle when doctors don't really want to see me anyway because, I guess, I'm too competent to be a desirable patient.
One outgrowth of that: people on the internet conclude I am some nutcase rabidly rejecting conventional treatment. Doctors did not really want to see me. I no longer need a physician's care. But good luck explaining that to legions of internet strangers who are quick to judge and have no desire to be confused with the facts.
If you have an obscure condition, it is not unusual to know more about it than most general practitioners will. This fact is not at all respected by the general public. Claiming you know more gets pissed all over in internet discussion.
The system does an incredibly poor job of serving most people with obscure conditions. Given the wealth of information and tools available today, I find it appalling that this is so.
I've had a similar experience. I had symptoms for which I saw several doctors and eventually went to ER and was repeatedly just told by them and everybody else "it's just stress." Finally, I went to a specialist and they diagnosed my condition accurate and immediately. I don't even have any side-effects any more because now that I actually know what my condition is, I changed my diet accordingly. No drugs or anything, all I needed was someone to tell me what my condition is and that has improved my life immensely.
How did you finally get a correct diagnosis? I am in the same boat, and in my 20s. I have been to some reputed doctors/institutions but none of them seem to be in the least interested in my records or medical history or symptoms beyond 5 minutes, more in veiled accusations of being either a hypochondriac or an uncooperative patient.
My ex was career military and I had the brilliant foresight to be a supportive wife and homemaker, allowing him to shine at work. This turned out to be critical to saving my life as his last 3 duty stations before we divorced were all special duty assignments, including his assignment to Travis Air Force Base as part of a tiny contingent of Army people stationed there.
Travis has a regional hospital serving military members from 8 states. It's longest hall is like a quarter mile long and it has its own dedicated gate on the base. It also is a teaching hospital that works closely with UC Davis Medical Center in Sacramento 45 minutes away and I think has connections to stuff in San Francisco, where some of our (family) testing occurred.
I had already been very sick for some weeks before we moved to Travis. Just before Christmas, we moved from temporary quarters into an apartment. January 4th, 10 weeks of chronic sinusitis turned to pneumonia and I ended up bedridden until some time in April.
I had about 2 doctors visits a week during that time and they ran all kinds of tests. All but two tests came back negative. I was told I have a ragweed allergy and a genetic disorder.
Because I was in the SF Bay Area, where by all rights an infantryman would not have been stationed normally, there were like 3 hospitals in the area that dealt with this disorder. My official diagnosis was atypical cystic fibrosis based on sweat chloride results in a historic grey area. Had I been anywhere else in the world, I probably would have died, having never received a proper diagnosis.
Most doctors have heard of CF. They have not heard of atypical CF, which presents more mildly and is frequently misdiagnosed as asthma, a diagnosis I had at one time. I felt it was wrong, but it got me useful treatment, so I didn't argue it at the time.
I also did some of the following things which I list in hopes of answering what I assume is your real question of "Do you have any insights into what I can do to try to successfully get a proper diagnosis?":
I persisted in the face of a lot of nonsense from medical people.
I tried to put my emotional baggage down before appointments and keep focused on getting answers rather than venting my spleen at random doctors.
At some point, I wrote everything down. Printing this out and taking it to a doctor was a mistake because he did not have time to read it. That appointment did not go well. But getting it all straight in my own head and able to tick off some of the most important details in chronological order and in a nutshell proved very valuable.
I eventually did some of my own research online as well.
