This is really a few questions, and they are directed at people who have eventually been diagnosed with a condition or illness that was previously overlooked because you ‘didn’t fit the profile’.
Do you have a medical condition that is extremely rare for your age group or gender or race or country where you live? Have you had problems with getting a diagnosis and/or treatment? Has this worsened your prognosis? Have you had a disorder that generally is accompanied by a certain group of symptoms, but YOURS have been different?
I’m wondering how common it is when MD’s refuse to countenance the possibility that even though you don’t have any risk factors, you may indeed have such a condition. What do you do when your ‘gut’ tells you something is wrong, but your Dr. thinks you are being a panic merchant?
This is of personal interest because I am currently going through this experience. Just some interesting gynaecological symptoms that are NOT common for my age group that are giving me concern. And it brought back to me when I was a teenager, and the difficulties I had trying to persuade Dr’s to give me a referral to an ophthalmologist because I thought I had glaucoma…they assured me that I was too young, there was no family history, and that I was just suffering from migraines (or maybe even hypochondria!!). It ended up being acute angle-closure glaucoma and I was very lucky I didn’t end up losing my sight completely, because although it only started off in one eye, after a while it progressed to the other, and it was occuring every bloody night.
Sure, I didn’t fit the ‘profile’, and my pressures were ALWAYS fine during the day…which is of course the time when you see a doctor. Finally, some bright Dr. decided to put me in a dark room and THEN test my intraocular pressures…and then they believed me. But it took TEN FREAKIN’ YEARS…
Not exactly the same, for fitting into a risk category, but…
Without going into too many gross details, both my sister and I have had weird gynecological problems. (Neither of us have kids, either.) Mine were somewhat explained by a huge ovarian cyst that was surgically removed, with significant damage to the plumbing, when I was a teenager. My sis has always had horrid, unpredictable periods. We both just figured, hey, them’s the breaks.
Within the past year we both discovered, after decades of problems, that our (ahem!) internal configurations are unusual. Quite independently, our doctors determined that the probable cause was a drug mom took while she was pregnant to combat morning sickness and miscarriage. Seems it was widely prescribed from about 1946 to 1970. The irony is, it didn’t really help either condition.
We certainly don’t fault mom, or even her doctors, really. Hindsight’s always easy, and medical advances even easier to take for granted. We know we’re both at higher risk for cervical cancer too, now, but overall we’ve both benefitted far more from medicine than suffered from it. All things considered, we’re richly, insanely blest with good health, and are grateful for it.
It’s just a tad frustrating that it took so long for the penny to drop, so to speak. When it comes to health, knowledge IS power. We were in an “at risk” demographic without knowing it, but now that we do, we (i.e. us and our doctors) can finally monitor for consequences sensibly.
Well, it hasn’t been diagnosed yet, but my mother thinks my brother and I should eventually be tested for (not very serious) variants of sickle cell anemia, since she’s convinced that we probably have one or the other. I’m not so worried, or fond of needles, that I’ve wanted to argue with a doctor over the necessity of doing the blood work to find out.
It took several years for doctors to correctly diagnose both of my parents and my maternal cousin with having blood disorders related to SCA. Doctors scratched their heads for years over my mother, since fair-skinned redheads are not usually in the “at risk” group-unless you happen to have an African great-grandparent as she does (to be fair it’s only been eight or so years since she and my aunt found proof that he was not, as claimed by older family members, merely dark-skinned Portuguese). It took at least half a dozen doctors puzzling over the slowness of her blood to clot before anyone even considered the possibility.
Apparently knowing that it was in the family history made doctors quicker to diagnose my cousin with the same thing. How my dad ended up with something similar is even more of a mystery since he’s of French-English-Scottish decent.
Both my brother and I were diagnosed with Crohn’s disease at a very young age. It usually doesn’t show up until the early or mid-twenties, IIRC, but I was diagnosed at age 5 and he was diagnosed at 2 (it just took them longer to figure out what was wrong with me. They caught on to him quicker because I’d already been diagnosed.)
There’s no history of it in our family, on either side, which is kind of weird.
Yup. I try to write updates to my previous doctors (who said things like “you need to eat better and exercise more”) to say “I told you there was a problem, and you wouldn’t believe me, and I have some endocrine and hormone levels 5 TIMES the upper end of the normal scale.” My father had iatrogenic hepatitis C for years before anyone knew what it was (only A and B were known at the time) or could do anything or even believed that there was a problem, so my whole family is very alert to this possibility. (It killed him, BTW.)
After many inadequate responses from my most recent ex-physician, I managed to see someone a few weeks ago who believed my self-report and gave me a glucose tolerance test. I wasn’t even upset when it came back with a note saying my number was high and that I should come in for a treatment planning meeting. Surprise! I’ve been complaining about hypoglycemia and peripheral neuropathy for over two years now, waving (well, not waving–grunting while lifting) Harrison’s Principles of Internal Medicine and my written lists of symptoms. OF COURSE I’m glucose intolerant–I’ve been saying so for years.
Checking your own symptoms in reputable sources of information, and particularly looking at the rule-out diagnoses. All the endocrine problems I have actually cross-reference my other problems when you read the technical/medical sections that talk about chemicals and processes.
Make friends with a doctor who can write a note to your physician saying “I know him/her and believe his/her self report to be accurate” when referring you to a specialist.