Possible Cushing's disease. Doctors aren't taking it seriously.
June 2, 2010 8:23 PM   Subscribe

Symptoms seem to match Cushing's Disease, doctors just don't believe it. Help?

My girlfriend has had a devil of a time with doctors lately; nothing they suggest/prescribe seems to help, and her health has been steadily declining for the past year, with a sharp downturn in the last few weeks.

After much research online, her symptoms appear to be a near-perfect fit for Cushing's Disease, but all the doctors in this area are booked up for months, and her primary care doctor appears to have taken the week off without notifying anyone.

Today her symptoms were bad enough that I took off from work to take her to an urgent care facility, but they after a 3 hour wait they basically blew her off ('You read something on the internet? Never mind, then, take some codine and sleep it off'). The nurse even refused to look at the list of matching symptoms she'd written on her phone.

What do we do about this? Is no one going to take her seriously until she gets hospitalized? Do we need to just show up at the ER and say "test her cortisol levels, please, we'll wait?"

Any advice would be appreciated.
posted by ®@ to Health & Fitness (17 answers total) 3 users marked this as a favorite
 
Best answer: Please go into a primary physician (any, even if they aren't yours) and have them run blood work. Ask for an ACTH stimulation test (this is what is done in animals, may not be the same name for humans).

Be your own advocate, please keep asking until you find someone who will see you.
posted by TheBones at 8:36 PM on June 2, 2010


In my experience, the goal of the ER is to make sure that you aren't going die in the next 24 hours - in other words, they only do emergency medicine. Your girlfriend's problems seem to be serious but not an emergency by their definition so you are unlikely to get any satisfaction from them. (For example, codeine for pain and a recommendation to see her primary care doctor in the morning would be a typical response - similar to the one you already got although hopefully without the snide remarks.)

Ideally, she would want to see an endocrinologist but she may need a referral to get on their schedule and/or to get the insurance to pay for it. Her primary care doctor really should have someone available on-call to cover him/her - I would try again or at least get her an appointment for Monday.
posted by metahawk at 8:36 PM on June 2, 2010


cortisol testing is not something that you administer on the spot. it's complicated and takes time and many visits to a lab, in my experience. i was at it for weeks! someone needs to order a very complex series of tests in order to definitively diagnose cushing's. go to the ER, tell them that no-one is listening. see if you can bring before and after pics, anything that you can to make your case without referring first to the internet. doctors are pricks about that. maybe they can do an emergency referral to an endocrinologist from the ER? can you call the PCP's answering service? nobody believed me either until i made an appt with the endocrinologist myself, which apparently offended my PCP, but she approved it anyway. you gotta be loud. these people are not your friends, they are professionals. memail me about the tests if you want.
posted by bright and shiny at 8:38 PM on June 2, 2010


There are more then one way you can have high levels of cortisol. Sometimes its a problem with feedback between the hypothalamus and the adrenals, sometimes its a growth on the adrenal glands, sometimes its a tumor in the body that is secreting a substance similar to ACTH. ACTH is also known as adrenocorticotropic hormone, which means that its a substance that makes your adrenals make more cortisol. This is not an easy diagnosis.

A couple of things that would manifest with cushing's disease are higher blood sugars. Maybe buy a diabetes monitor (the cheap, generic ones for $20) and see how her blood sugar is when she wakes up in the morning, or at a random time during the day. That might give the doctor some data to back your case (excess cortisol can push blood sugar levels upward). At least, they may pay more attention to hard data.

I am very frustrated with the general cockiness of the medical establishment myself. I feel that a lot of it is about politics between practitioners, the belittlement of underlings, and a general hazing process that feels vaguely similar to a fraternity initiation. This is just not conducive to providing good care to patients.
posted by candasartan at 8:51 PM on June 2, 2010 [1 favorite]


I'm certainly not a doctor and I have never heard of Cushing's Disease before this post but I feel like you should always take what you read online with some skepticism. A doctor won't make a diagnosis based on her symptoms alone. Tests must be done before you will be able to get a definitive answer. Just keep this in mind because it can be very overwhelming when you see a list of symptoms and think they match you to a tee.

Any chance you are in, or near NYC? New York has some of the best hospitals and doctors around. You said that all the doctors in your area are booked up for months, if you ARE in NYC and can't get an appointment.... keep trying and waiting. Be pushy if you have to, and work with your primary care doctor as soon as he gets back. If your not in NYC, would it be possible to secure an appointment with a top rated specialist and travel in? This link may help.

I wouldn't recommend you telling your doctors that you have come to your conclusion after reading online. That being said, you need to speak up (which it seems you have been doing). Express that you want Cushing's Disease to be ruled out and demand any tests you think are needed. Once you get an appointment with a specialist, they will listen to you. Going to the ER and getting an emergency referral may indeed be possible. Keep working on that because sometimes your primary care doctor is wrong and doesn't want to listen to you.... I have had it happen to me. Don't give up and never under estimate the value of a second or even third opinion. Good luck! =]
posted by Funky Claude at 8:53 PM on June 2, 2010


You haven't even gone to a primary physician, and you're acting like they have blown you off already. Any doctor who goes on holiday has someone take over for them while they are away. The point is, get a medical professional to see her. Don't research online and come to a diagnosis yourself, and think it's just a matter of persuading others.

My father is a GP and a damn good one who cares about his patients. But I can't tell you the number of times he has decried the Internet for filling people's heads with bizarre and outlandish theories. Take a deep breath.

@ bright and shiny -- If he were to go into the ER and tell them that "no one is listening," that would be a lie. They haven't seen a proper doctor yet! Going into an urgent care facility is not how you deal with this.

I hope everything turns out well for your girlfriend. Good luck.
posted by teedee2000 at 8:56 PM on June 2, 2010 [5 favorites]


hey, i went through something similar and here is my diagnosis: PCOS, low vitamin d, and gluten intolerance. i was feeling quite on the edge of myself for a while. the docs were slow and methodical and even if they didn't believe my claim of cushing's, they acted on it. very very best of luck and i second not going to the ER but seeing the doc on call and just being assertive.
posted by lakersfan1222 at 9:16 PM on June 2, 2010 [2 favorites]


There are a bunch of different things along the hypothalamic-pituitary-adrenal axis that can cause hypercortisolism, and more importantly there are a lot of non-endocrine issues that can produce symptoms reminiscent of it. There's a reason why endocrinologists are considered among the more cerebral sorts of internal medicine docs: the disorders they deal with are tricky and confusing, and not really amenable to self-diagnosis using the internet. Please, take a deep breath and use your energy to find a primary care doctor who will see your girlfriend.
posted by killdevil at 10:12 PM on June 2, 2010


The ER motto is "treat 'em and street 'em". A Cushing's diagnosis isn't something that the ER doc (or any physician) is going to do on the spot. Endocrine problems are complex. Accurate diagnosis is tricky and treatment is an ongoing effort.

You need to start with her PCP or an endocrinologist. It'll take at least a few visits to get to the bottom of the problem. It's frustrating, but endocrine issues are a puzzle.

Good luck.
posted by 26.2 at 10:33 PM on June 2, 2010


Best answer: As someone who's dealt with endocrine (thryoid) and autoimmune issues myself, I can tell you that in some ways this is kind of par for the course -- it takes time, persistence, and patience to get a diagnosis and a treatment plan that works. Emergency rooms and urgent care facilities are not intended or equipped to be an adequate substitute.

As for concrete advice, I would say that your girlfriend should probably call her GP's office in the morning and ask not only for the first available appointment, but also ask to be put on the stand-by list for any cancellations. This should signal to the receptionist that she's serious about seeing someone soon, ideally within the next week. She should be assertive as well as friendly and polite while doing so (and should explicitly thank anyone she talks to for any help they can give her); again, speaking as someone who's had to play the health care game literally my entire adult life, I can tell you that you want the gatekeepers in these situations to feel like they want to help you (rather than wanting just to get you off the phone).

Once your girlfriend can see her GP -- or the doctor on call who is covering for her GP -- she can discuss symptoms and ask (again, be assertive AND polite) for a referral to a specialist, in this case, an endocrinologist and/or a rheumatologist.

If her health plan does not require a referral from her GP, she could of course make an appointment with a specialist (or two) herself. Use the same technique above of asking for the first available appt. plus asking to be put on the stand-by list.

Good luck.
posted by scody at 10:56 PM on June 2, 2010


Everyone here is already giving you "endocrine" advice, when you're not even sure that's what this all is. Many groups of symptoms match the symptoms of Cushing's disease. Many groups of symptoms match many things. Get a sore throat and an enlarged lymph node and Google can easily convince you you have lymphoma or acute HIV infection. I once had a lady who had vomiting and diarrhea after eating at a border Mexican restaurant fully convinced she had arsenic poisoning.

The ER motto is "treat 'em and street 'em". A Cushing's diagnosis isn't something that the ER doc (or any physician) is going to do on the spot. Endocrine problems are complex. Accurate diagnosis is tricky and treatment is an ongoing effort.

I like to think our motto is, "Try to diagnose'em, try to treat'em, and decide whether they need admission or not." I'm not your girlfriend's doctor, so I can't provide any medical advice, but like stated above, emergencies are our forte.
posted by gramcracker at 2:33 AM on June 3, 2010


Response by poster: Thanks for all the advice so far. In response to a few:

-She does have an endocrinologist, who has been very helpful thus far. However, the next appointment isn't until August. She is at the top of the waiting list for openings.

-I've already floated the idea of travelling to NYC to find a doctor (we're upstate). This is looking like the next best option, given the trouble we've had finding a good primary.

-Blood sugar levels are already monitored regularly and closely (GF is diabetic, very good about watching what she eats and staying on top of her insulin).

-Her primary care doctor has been pretty unhelpful so far, and we've been trying to find another one without much luck. The primary's answer to everything is "You're too fat, eat less, exercise more." However, exercising and eating better don't seem to make much of a difference, and we're already eating pretty darn healthily (almost never go out to eat, no "sweets" in the house, we don't use much butter or fat in cooking, watch our sodium intake, eat unprocessed meat over processed, lots of fruits and vegetables, balanced portions, etc). Basically, the last four visits to the doctor have been the GF saying "losing weight in healthy ways doesn't seem to work, also I have all these weird tangental symptoms" and the primary saying "Just eat less, you have no other problems."

-The reason for the panick-y tone of the post is that from my perspective, she's been on a downward spiral. Six months ago she had occasional issues with pain and general fatigue. Three months ago she was in pain on a regular basis, frequently tired (despite getting more sleep) and gaining weight (despite cutting down on portions and getting more exercise). This week she's been in near-constant pain to the point that it interferes with her work. The thought that this might be Cushing's is a recent thing that seemed to "fit" all her otherwise unrelated symptoms, and the desire to get it diagnosed quickly is because of bad she's gotten lately.

Anyway, thanks for responses so far. GF may get on later today and post as well to clarify anything I've missed.
posted by ®@ at 6:24 AM on June 3, 2010


Just a note of context from a non-doctor someone who watches too much House - Cushing's disease, along with lupus and a few others, get a surprising amount of 'replay' on that show as potential diagnosis for patients. First off, this reflects the fact that as mentioned above, diseases like this are difficult to diagnose and parse out from other conditions.

More relevantly for you, though, it means that not only do you have a potential diagnosis from the internet, you have a potential diagnosis from a popular television show. Unfortunately for you, self-diagnosis of Cushing's and lupus may be up right now. This is great for the people who have these conditions and are able to find out/get treatment, and aggravating for doctors who have an insistent patient with a real problem that may be something other than Cushing's.

That said, I am seconding the advice to try and get a referral from your GP rather than urgent care or an ER. Your girlfriend has been making behavioral changes without success, and has a right to ask for blood work to rule out endocrine or other problems. Since the resistance from the doc has been weight-based, you might want to look into Health At Every Size (HAES) if you haven't already. This is a good search term for looking for a new GP in your area who is less likely to insist on weight loss to the exclusion of other treatments. HAES also has resources on self-advocating for better care.
posted by heyforfour at 7:08 AM on June 3, 2010


Response by poster: Okay. Hi. This is "the GF." Here's some clarifications and some more medical background (sorry, this is long):

-I've been a type one diabetic since I was 13. I see my endo or her assistant every three months. My diabetes is pretty well controlled -- not perfect, but good -- and as my boyfriend mentioned, I do my best to stay healthy and exercise. I'm in good shape, despite being overweight. I don't eat much sugar at all and, provided I feel alright, can exercise and whatnot without much trouble for a good amount of time without hurting or straining myself.

-Last year, when we moved in together, I was 195lbs. Summer hit, my legs swelled up, my right side started to hurt in unbelievable ways, something happened to my right foot/ankle (never figured out what it was, despite being up my physician's rear end about it) and I then managed to gain about 30lbs over the course of five or six weeks. There is no way I was eating enough to gain that (would've had to consume, what, an extra 2000+ calories a day? I love food, but geez), and my level of activity wasn't downplayed enough to cause such an increase. Since then I have managed to get down from 225 to around 215 or so.

-The weight is all in my stomach (occasionally looks like I'm pregnant, which is awesome :P) and not at all in my legs or arms, which, despite being now around 215 (after a few weeks of eating less than 1000 cals a day and exercising, I lost 5lbs), are not flabby at all.

-My face is also swollen and red and my skin is terrrrribleeeee. For a 26yr old who drinks an adequate amount of water, eats veggies, washes and moisturizes and doesn't wear makeup, it's distressing.

-There's also the neckbeard that I get. Good ol' hirsutism. Sigh. I am not really ready to be the bearded lady just yet. At least I know that there are career options for sick people with undiagnosed problems!

-Did I mention the buffalo hump? It's also sexy.

I've been checked for PCOS (last year) after not having periods for a long time without medical assistance (period issues started when I was 19 and weighed 170lbs -- didn't hit 200+ until I was 22 or so). Tests were done and nothing showed up. Ultrasounds and CT scans of my abdomen also came up negative for anything except slightly enlarged ovaries. So while I had unexplained "flank pain" that would often keep me from being able to do much if I got tired, I was just told I was too fat and needed to eat less and exercise more. I still get the pain, which is not fun. But again...nope, just have "five yards of gut" (direct quote from doctor), though I didn't realize fat could hurt by sole virtue of existing.

I went to the urgent care yesterday (not the ER, this is like halfway between the physician and the ER) because my lower back had seized up, I had rib pain for no reason (breathing hurts, woo), and for the past few weeks had been experiencing dizziness when frustrated or stressed. Kept clipping walls when turning corners, too, which is a joy. Other times, if I get stressed/frustrated in a flash, I get a weird feeling like my eyes were popping followed by a headache that would often turn into a migraine. Left the urgent care with pain meds and muscle relaxers and told to take Mucinex.

Yes, I looked online for what my symptoms could be because my doctor has 1.) given me bad advice in the past (for example...one of my first meetings, she changed my insulin types despite the fact that I had my diabetes in amazing control with what I was using and she refused to write scripts for my previous types of insulin, which made my numbers go off the charts...and then failed to mention that I couldn't mix my long-term and quick-acting in the same syringe like before because they apparently cancel each other out) and 2.) I can't imagine all of these issues are simply due to being fat. Also, doing other research I realized my blood pressure is almost always at a level that denotes hypertension or prehypertension, and my doctor hasn't mentioned it...despite me mentioning constant headaches and the lightheadedness, etc.

I'm in the process of trying to find a new primary, but it takes time. It's also frustrating to have to keep giving my history over and over, but I'll do it. My boyfriend is just worried because I never quite feel well and there isn't anything he can really do to make me not hurt or be depressed.

So...yeah. Sorry to be so long-winded, and...any ideas that could make my boyfriend feel better about my situation would be awesome. :-\
posted by ®@ at 7:08 AM on June 3, 2010


Response by poster: Also, to heyforfour, it's funny, we don't watch TV and I (the GF) haven't seen House or anything. Didn't hear about Cushing's until I was looking at hormone-related problems (thyroid, mostly) because I figure, as mentioned above, having an ungodly amount of facial/body hair is not normal for a lady. But that's a good point, and explains a lot. Thanks.

I will check out the HAES. That's a fantastic suggestion. Thank you.
posted by ®@ at 7:13 AM on June 3, 2010


I have a number of health problems. Last year my doctor was dead certain I had Cushing's; got me tested, and I don't. I went and looked; it's astonishing how many syndromes my symptoms match. Just judging from the symptoms that I have, gosh, I could have muscular sclerosis, I could have Cushing's, I could have Marfan's syndrome, I could have all kinds of terrifying stuff.

It's testing that will show what you do have, and just having all the symptoms doesn't necessarily mean anything. Certainly, you're miserable; certainly, you can suggest that the docs schedule tests for something in particular. Absolutely, it makes sense to be frustrated and angry that you're suffering while you wait.

But being certain you have one particular syndrome because the symptoms match *may* mean that you just haven't read up enough to realize how many different syndromes you could have. And yeah, that can make the doctors roll their eyes and blow you off--even if you're right.
posted by galadriel at 8:41 AM on June 3, 2010


I think just by saying "I researched it myself online..." will make the doctors and nurses blow you off. Because, you know, that can imply that you trust the internet over your doctor who had years and years of study and training.
And if diagnosis was that easy, why would doctors go through all that trouble to learn what they do? Even though symptoms may match, it doesn't necessarily mean that your diagnosis is correct. HOWEVER, if there is any possibility then of course you want to ge tested for it.

Why don't you tell them that you know someone who has the disease and the symptoms look very similar instead of mentioning internet?
posted by dustoff at 12:19 PM on June 3, 2010


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