Archive for January, 2010

Jesus Christ, where on earth do I begin?

I was supposed to blog after my appointment on December 21, but in all honesty? After that appointment I just felt so deflated, so defeated and even started to question myself that I really just had to lay low (quite literally) for a while.

As jaded and cynical that I appear sometimes, I am an optimist. Often so much of an optimist that it is to my own detriment, and this whole affair is no exception. I was hopeful that I would turn up, have the Doctor go “wow, well done! you figured it out!” and would actually be interested in finding out why I felt like I was 80 years old, why I continued to gain weight, why I would wake up in the middle of the night dreaming about crawlers all over my roided up body, and why my adrenal glands (and by proxy, my kidneys) were quite obviously failing before our eyes.

Because after all, Doctors are scientists! Endocrinologists, particularly, are drawn towards the specialty because they are interested in how the most delicate of hormonal imbalances can end someone’s life prematurely. They are inquisitive – they don’t just see a fatty with a headache but see the fat as a symptom. OF COURSE THEY DO. It’s why I am stopping my life to go to med school… because that’s how *I* think.

There is a saying thoughout Medical school, that they often tout, which is “When you hear hoof beats, think horses, not zebras“. The reasoning behind this is that zebras are rarer than horses, therefore, in order to be logical and a good doctor, if something resembling a zebra walks into your office, as a Doctor, you should assume that it is actually just a normal old horse. EVEN IF THE ZEBRA COMES IN SAYING THEY ARE A ZEBRA AND HANDS YOU THEIR FUCKING DRIVER’S LICENCE.

The appointment

I went to the appointment and made sure that Jason came with me. I was really anxious, because I am suffering from what sometimes feels like early-onset Alzheimer’s at its worst, and mild ADHD at it’s best (which I might add, is fantastic from someone who has always been so focused, with a photographic memory and abnormally awesome recall!). Because I had been waiting weeks for the appointment, I needed to make sure that I was not forgetful, held my thoughts and told the Doctor straight what was going on.

I brought with me a round of test results that my GP had conducted a few weeks before, where I failed to suppress on a 1mg dexamethasone suppression test, and had a urine cortisol level below detectable ranges. What I had done was take the urine sample for 24 hours on the Thursday from 6pm-6pm. Then, at 11pm that night I took the dexamethasone tablet for the next morning’s blood test. This information is significant for later on.

Now, to my Doctor’s credit, he didn’t laugh me out of the room or dismiss me like so many Doctors have done in the past. When we sat down, he asked me some basic questions, read my symptoms list and was basically pretty nice. I actually started to relax a bit, even when he stripped me right down to nothing and examined just about every part of my body, put me through a muscle strength test, and was basically OK. I actually started to think that we were going to get somewhere.

He then asked me if I thought I was depressed.

Oh For Fuck’s Sake, here we go. I answered no. I said that even though anxiety and anger has been a problem in the past, that in retrospect, it can be pinpointed to when symptoms have been specific, and that no, generally I am actually a pretty positive person that can see the funny side of everything (even if that side is dark ;)). And to be fair, YOU JERK, how the fuck do you think I feel right now? There is a difference between clinical depression, and being actually fucking legitimately emotional. And basically, with that, I knew where he was going.

He then used the words “Pseudo Cushings”. Now, don’t get me wrong, he most certainly acknowledged that I am really sick. He most certainly acknowledged that most, if not all of my symptoms pointed to cyclical Cushing’s. But then, he started the speech:

“You don’t look Cushingoid”.

“Cushing’s is so rare that you should prepare yourself to not have it and have to live with whatever is going on.”

“Oh, that test result is strange, therefore it must be incorrect.”

“Diet and exercise”.

“Autoimmune”.

“Cushing’s and particular Cyclical Cushing’s is so annoying and difficult to diagnose. It’s my least favourite thing to do”.

“OK, why are you crying?”

And by this point, I was already over it.

Now to be fair, this is how I *reacted* to what he said. Overall, he wasn’t disputing my symptoms or the tests, and ordered me more intensive testing. He’s probably just playing the numbers. But you know, part of me thought this might actually be more straightforward than I had expected. And part of me was devastated that I had to prove I wasn’t stupid. That I actually know the difference between real and imagined symptoms. That I understand the rarity of what I am saying… and that I am quite a capable human being.

Just as a side point, Pseudo Cushing’s only applies to people who are very, VERY depressed, or chronic alcoholics. Not in normal, modern-life kinds of depressed people. And I also have cyclical, or episodice Cushing’s, which means that I cycle between symptoms of Cushing’s  and Addison’s Disease, which accounts for 100% of my symptoms.

And “I don’t know what you have” is NOT an answer for a patient who knows what their illness is and it might be a little bit difficult to confirm it. Because, even though its rare, I am pretty sure that Cyclical Cushing’s, with its rareness, still has a name. That beats “I don’t know”.

So, you know, the Doctor was non-committal. He was nice enough, but obviously, like so many others, didn’t believe me. He has basically already made up his mind that I was not only a horse, and was just a depressed, delusional horse who self-diagnosed as a zebra on the internet. I knew this when I asked if, because I don’t see him till January 25th, I could be copied in on all the Pathology results, he smiled at me condescendingly and said “no, I don’t think that’s a good idea.”

So what did I do?

I went to the Pathologist for my 48 hour dexamethasone suppression test, and I asked them to copy me in on the results. Because I am not a fucking idiot, and I am now officially collating results to take to Los Angeles.

Oh yeah, backtrack… on December 23rd, I ended up in Emergency at Royal Perth because I had severe chest pain. It was caused by my taking of (low doses, like 2 a day when pain got bad) of Nurofen for my joint & muscle pain when Tramal didn’t quite cut it. My heart is also crap, but that’s something that funnily enough is caused by Cushing’s too… so my choice is between tolerating pain, and ripping open my stomach. I, naturally, have now chosen to keep the stomach intact and have no non-drowsy way of managing pain… but anyway.

They also did a Full blood count, which showed some interesting deviations that confirm Cushing’s. I had a high RBC, borderline high WBC and a few other results that get added to the pile, I guess.

Testing

So, pissing in jugs for 3 days, trips to the hospital every morning… even though I knew that I was actually in a low-normal cycle because I had wrist and ankle pain (it disappears when cortisol is up), and it was morning and I am always low in the morning. But you know, part of me was hoping it’d been caught.

So each day this week, I received some test results. The first one, baselines, woohoo! High ACTH! Apparently that’s a pretty significant sign of an ACTH-secreting tumour. Yay me? I guess? Baselines were otherwise normal or high-normal and nothing to see here. Growth hormone on the low side of normal. Creatinine on the upper limit of normal.

Day 2, mid-normal results but Creatinine high. Day 3, mid-normal results but Creatinine high.

So FUCK. Yes, the ACTH is pointing a certain way, but I was devastated by the pathology report that says “this represents adequate suppression of Cortisol and does not support the diagnosis of Cushing’s Syndrome”.

Now that was the bit that I have big problems with. People with pituitary tumours almost ALWAYS suppress with a dexamethasone suppression test. I really felt judged and ridiculed by that result – not only because of the scientific inaccuracy of what they were saying, but you know… Horses. Zebras. How can I possibly know more about how I feel and what I have than a Doctor?

Add to that, the letter my Doctor sent to my GP, questioning the original Urine collection results, whereby he basically concluded that I was “confused between dexamethasone and dexamphetamine” and must’ve taken the dexamethasone before the test.

HORSE SHIT.

So, I sent an email.

I received a letter from Dr W today that he wrote to my GP. He raised a question in it that I would like to clarify.

He mentioned that he thought there was some confusion as to whether I had taken dexamphetamine or dexamethasone and that I may have been “confused” about the two. I know the difference and no, there was no confusion and yes, that IS a low cortisol, which is consistent with my suspicion that I have cyclical Cushing’s or some other sort of Adrenal issue – which is what I actually raised in the appointment.

I would like it on my record, please, attached to the letter on both files, that I was NOT confused between the two drugs. There was NO dexamethasone taken prior to that UFC and that that low UFC was low without any drug interference. I deliberately came off all drugs so as not to interfere with any testing – because I know how hard cyclical Cushing’s is to diagnose (it’s not even recognised by some Doctors).

So, to be clear, I took 1mg of dexamethasone at 11pm the evening after I handed in the UFC and the dexamphetamine had not been taken at any point during the test on November 7, 2009.

I appreciate your efforts and I know it’s a long road. Every little fact matters.

Best regards

And now, I have this fucking ordeal ahead of me. Where now, this blog is as much about compiling information for Doctor Friedman in Los Angeles, as it is for my friends and family. It may very well be the case that the endocrinologist acknowledges the evidence that my results are completely consistent with Cyclical Cushing’s. But I have a feeling that he has already made up his mind. I am expecting any abnormal results to be written of as “merely a black and white horse aka Pseudo Cushings aka Syndrome X aka “have you tried Atkins?”". I am expecting a shit-load of confirmation bias and I fully expect to be on a plane to Los Angeles within 6 months.

I expected it to be a long road to getting the diagnosis. I have a disease that is not understood, that I know I have, and the evidence is there. But part of me was hopeful that I would be believed straight away, that they’d find the proof straight away, and it would be smooth sailing. Next step is getting salivary tests, to test midnight Cortisol, because THAT is where the diagnosis is, I just know it.

Turns out a zebra has to fight to be taken seriously.

Reading (mostly for me, but you can read too!):

Tips to Steady your Feet & Get Diagnosed Quickly – Cushing’s Moxie (really helpful blog for someone who has been there)

Cyclical Cushing’s Paper