Wednesday, July 1, 2009

Amber (AmberP), undiagnosed bio

Over the course of roughly a year in my early teens, I gained over 50 lbs., started noticing excess hair growth, and began having acne so severe that I was subjected to three full courses of a drug known as Accutane. Nothing had changed in way of my lifestyle or diet, and here I was all of a sudden with health issues presenting at the age of 13.

My dermatologist one day mentioned that my symptoms might be supportive of this rare disorder known as Cushing's and suggested I see an endocrinologist. I made my appointment, and the doctor ordered the standard battery of tests, including a 24 hr urine collection.

On that first appointment, she told me that my symptoms lined up very well with Cushing's, so they were going to test for it, but told me that day that it was something I didn't want to have as it usually involved having a brain tumor - but not to worry, it was extremely rare and it was very unlikely I would have it.

The tests came back and while my cortisol level was apparently at the high end of normal, she decreed that none of the tests showed anything of use, and that I should feel relieved that it all must just be normal teenage hormonal changes and that I should just focus on losing some weight. She'd scared me with this brain tumor talk, so I was happy to have this clean bill of health and moved on.

The weight gain persisted over the next few years, while the excess hair growth got worse and my periods all but stopped coming. I eventually found myself in endo #2s office. The first thing he mentioned after examining me is that my symptoms were increasingly in line with Cushing's, but since it had already been tested for, he didn't think it worthwhile to repeat the test.

After the battery of tests he did came back quite normal, he determined I must have PCOS, and began me on Actos. I continued on this for a few years as my symptoms became progressively worse. After a while of seeing no real benefit to this treatment, I eventually stopped.

Flash forward a few years and upon my mother's insistance, I find myself at endo #3s office at a major university. This gentleman asked all the same sorts of questions, and again the first thing he mentions is the possibility of Cushing's. I immediately go back to that day when I was 13, and let him know that it had been checked previously, so he too declines to test again. The other tests are mostly normal, though now it seems my blood sugar is slightly elevated, though just enough to barely be considered pre-diabetic.

He starts me on Metformin and asks me to participate in an intensive medical study for the effects of Metformin on PCOS patients. I agree, and after months of taking the drug, I'm told by the resident who acted as my liaison that it's odd because my symptoms are so dead on for PCOS, but there are no cysts at all, and my body doesn't seem to respond much at all to the Metformin. I stop taking the drug after this.

Symptoms continue to worsen, and in attempts at help in weight loss (which has become a very serious issue by my early 20s), I see endo #4. The appointment was like deja vu - exam, immediate mention of Cushing's, see I'd been tested for it previously (though it was 10 yrs ago at this point), then ran the normal endocrine workup and got the same results. Verdict: PCOS - begin taking Metformin again and low carb diet. So I did, and even after sticking to a 2000-2500 cal/day diet for almost a year plus taking the metformin, I only managed to lose 11 lbs from the 332 lbs that I weighed when I began this diet.

Frustrated, I - upon prompting from my PCP at the time (approximately a year later) - go see endo #5, but unfortunately found myself having the very same conversations, tests, and conclusions. I agreed to up my Metformin to the maximum dose and begin an intensive medically supervised diet through a company called HMR. I stayed with this very rigorous and expensive diet plan of 1200-1500 cal/day plus at least 30 mins of walking each day for around six months, managing to lose 47 lbs of the 350 I started with, but eventually had to step away from it because of the enormous expense involved and my inability to continue paying for it as a full time college student.

College was a busy time, and as time progressed, I found myself gaining back all the weight plus a few pounds and feeling progressively worse as the years went by. I began getting frequent skin infections - having to be hospitalized twice for cellulitis in my legs. I've had several bone fractures from what are normally very benign sorts of occurrences - each of my fingers have been broken at least once as have several of my toes, and I broke my foot twice, both from very simple falls. The excess hair growth got to be completely out of control, with the current need being shaving most of my face twice a day and plucking in numerous other spots. My blood pressure has come up to prehypertenion levels. My knees have begun causing issues and are quite weak. I've also been having fairly intense back pain, diagnosed as degenerative disc disease. My periods have all but stopped coming, having maybe 5 or 6 over the past 10 yrs total.

In the past year, I've begun having anxiety issues for the first time in my life that I’m now taking a low dose of Citalopram to control. I'm so weak and tired all the time it's a fight to even get out of bed most days. Recently I've begun being having serious bouts of weakness/dizziness that generally sync up with terribly awful headaches. I can barely even make it to work most of the time. In trying to do a bit of self diagnostic research after being tested for virtually everything over the years and doctors repetitively telling me that I just need to work on losing weight, I came back across the familiar word of Cushing's. I've always been afraid of it since that day when I was 13 and have never looked heavily into it consequently, but here I am reading the symptoms, seeing the pictures, reading all the stories, and all I can think is "oh my god, this is me". All the symptoms I've previously mentioned combined with the "moon face", the abdominal obesity with relatively slim legs and arms, and the "buffalo hump"…. Finally something that makes sense after 15 yrs of searching!

After doing my research last month, I call and schedule an appt with endo #3, who is now the head of the endo dept at a large university. I go in armed with information, and ready to have a serious discussion on the possibility of me having this disease. The first doctor with whom I spoke listened very patiently to my story and all of my symptoms, and agreed that it was worthwhile to test for Cushing's again along with a repeat of the normal battery of endocrine tests.

The main doctor comes in a few minutes later, asks me a few questions, and then says "well I can tell you that you don't have Cushing's because I would have found it 10 yrs ago when you were here if you did. But we'll go ahead and test to be sure." He orders a 24 urine collection and a low dose dex suppression test along with a 8am cortisol blood draw, and while I'm confused why he immediately tells me that I don't have it when I have had no testing for it short of one urine collection that was on the high side of normal 15 yrs ago, the testing that was ordered satisfied me enough that I didn't push when he said he didn't like the salivary cortisol tests, and didn't see the use in the midnight blood draws. I was very hopeful for weeks, and finally I receive a letter saying that everything was completely normal short of just slightly elevated testosterone and stated that I most definitely did not have Cushing's.

The only suggestions given were to up my Metformin back up to the max dosage and get in touch with a weight loss surgery specialist. In reading these forums, it really doesn't seem wise to stop at this point, so I call and ask if they'd agree to repeat at least the urine collection. I was told that there is no use, and that they could do no more besides get me in touch with someone regarding gastric bypass. I go to my PCP a few week's ago with the results and asked if he'd agree to order a few more urine collections if nothing else, and he point blank told me that if a specialist at a major university says I don't have it, I don't have it, and he won't assist in doing any more investigation.

I tried calling around to several endo's in my area after that with a shortened version of my story with the request to just have some more testing run, and no one will agree. I've started wondering if I'm crazy, but the stories on these boards let me know that I'm only one of very many with the same sort of back story, and that there aren't easy answers when it comes to this disease. It seems obvious that I need to have more testing done, but I'm completely at a loss as to what my next step should be all things considered.

My job provides great insurance and I’m willing to travel if there’s some real prospect of help elsewhere… but I have no idea who to call or where to go at this point!

Can anyone help point me in the right direction????

(MaryO note: Although Amber asks several questions, she didn't give permission for a link to her email address to be added to her bio)

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