Amber’s Story

Searching for a Diagnosis, by Amber Nicholas-Patterson

When I was 13, I gained 65 pounds in my face and abdomen specifically during the school year.  Nothing had changed.  I was a happy kid in a happy home that did well in school and played lots of sports; same level of activity, same diet.  But something was changing.  I also began experiencing terrible acne around this time.

My dermatologist looked at me one day, and when I say ‘looked’, I mean really, intensely looked for close to a minute without saying a word.  Finally, he said something along these lines: This isn’t my specialty, and you should definitely talk to an endocrinologist if you want to check into it, but I think you may have a disease called Cushing’s.  When I inquired why he thought this, he named off the aforementioned symptoms and then said that when he looked at my face from a certain distance, he couldn’t see my ears and he remembered an endocrine specialist telling him once that was a fairly reliable sign.  (Note: I’ve never heard this since, and don’t know if anyone still or ever really did subscribe to this theory.)

I told my mom and she made the appointment with my first endocrinologist.  The first thing the doctor said after asking about symptoms was that she wanted to test for Cushing’s – without prompting from us.  So I collected my urine for 24 hours and turned it into the lab, and a few weeks later I was greeted with what seemed like great news at the time from the doctor: Your cortisol level was a little high, but you definitely don’t have Cushing’s!  No need to worry about having a scary tumor in your brain after all!  Just go on a diet and you’ll be fine.

I tried the diet route to no avail, and a year or so later I found myself in the room with another endocrinologist.  After listening to my symptoms but before looking at my records, he immediately said he wanted to test for Cushing’s.  As soon as he looked at my records and saw that I had a “negative” test in my past, he decided against it.  I was relieved because I certainly didn’t want that scary disease!  After some other tests, it was determined that I had poly cystic ovarian syndrome (PCOS) and I immediately began taking two medications to treat it.

Years went by and my symptoms only got worse and worse.  My body hair was getting thicker and darker.  I continued gaining weight specifically in my abdomen.  My joints were starting to hurt, and I was getting tired more easily.  I wasn’t capable of playing sports competitively anymore and switched my focus to music and computers.  My parents decided to try a third doctor, this time at a nationally ranked university hospital to see the head of their endocrine department.  This doctor walked in the room, looked at me, and immediately told the nurse in the room that his initial suspicion was Cushing’s based on my appearance.  We went through my symptoms and I informed him that the test I’d taken when I was younger was negative, so he agreed that it didn’t make sense to repeat it.  He reviewed my file, agreed with the course of action my previous doctor had taken, and then talked me through how I had a “textbook case” of PCOS.  He talked me into joining a medical trial at the hospital that required traveling there several times to be monitored in the hospital for a weekend each time.  Doctors and students regularly came by during these visits to examine/talk to “the most extreme PCOS case [any of them had] ever seen”.  I was subjected to new drugs that made me sick and one that sent me into full blown hallucinations.  It was miserable, but they continued to remind me how I was helping science and in turn people like me.  My case was included in a peer-reviewed journal article and eventually in a textbook.

After going through all of that and still experiencing ever-worsening symptoms, I decided doctors were useless during my college years, and I avoided them altogether during those five and a half years.  Those years were positively rough.  I’d been a great student previously and even had been awarded an almost-full scholarship to a prestigious university, but life had become markedly harder physically and mentally, and I failed out of that school and two others in the few years following high school.  I finally landed at a state school that took me in spite of my horrifying grades.  I made it through somehow – just barely at times – and graduated a few years later.

As I began my career and was forced onto a regular schedule, my symptoms proved to be more of a problem.  I was up to 350 lbs, my immune system was terrible, I got skin infections regularly, my muscles and joints were getting very weak, and I was starting to have allergic reactions to a variety of things.  After one of the skin infections landed me in the hospital for over a week and had me off work for almost a month, I realized it was time to stop avoiding doctors.  I got a primary care doctor and scheduled an appointment with my fourth endocrinologist.

I had déjà vu at this endocrine appointment.  Both the doctor and his student assistant immediately suspected Cushing’s.  I told them I’d been tested a long time ago, but I’d like for them to check it out again.  He agreed, but he stated it was very rare, and there was almost no chance of me having it.  After the 24 hour urine collection came back at the high limit of normal, he again stated that it was super rare and that I now had two tests that showed definitively that I did not have it.  He put me on a low carb diet and promised that there was nothing wrong with me that this diet couldn’t fix.

Fast forward a year of medically-supervised, hardcore dieting.  I lost 10 or 20 lbs. a few different times during this year, but would always gain it back and sometimes seemingly instantaneously.  No one believed that I was sticking to the diet, and I suppose I can understand why as there is really no way to explain how a person who weighs in the mid- to high-300’s could GAIN weight while taking in 1200 calories a day.  My symptoms were all getting worse, and it was getting increasingly hard to keep up with the demands of my job as I was climbing the corporate ladder.  I made the decision to go back to the same university hospital to which I’d gone in my teens and try again.

Endocrinologist #5 was excited to see me.  She’d read about my case as a student there in medical school.  I went through how my symptoms were only getting worse and worse, and after conducting a several-months-long detailed review of available information on the internet (mostly on while I was awaiting my appointment, I felt pretty strongly that it was worthwhile to look more deeply into Cushing’s.  She agreed my symptoms were a match, and agreed to do a few different tests: 24 hour urine, a blood draw for cortisol and dex suppression test.  I was scared; it was becoming clear to me that this monster named ‘Cushing’s’ that had been hiding in my closet for all of these years was real.  But as scary as that realization was, continuing to live a life that was getting markedly harder and worse every day had become scarier.

I was excited to go back to my appointment a few months later, but my optimism was quickly extinguished when I received a voicemail from the doctor:  One of the tests was high, but not too far outside of the normal range.  I’ve consulted with the head of the department who you saw several years before and we agree that this most definitely ruled out Cushing’s.  As a side note, we both hope you leave this Cushing’s thing alone.  It’s a terrible disease, and you should just be happy that you don’t have it.  I’ve cancelled your appointment.  You should follow up with your local endo for PCOS management, and I strongly suggest you schedule a consult with a specialist to discuss gastric bypass.

I was devastated.  I finally felt like I knew what had been happening to my body for all of these years, and two supposed experts were telling me I was dead wrong.  All five of the endo’s I had seen (and several other doctors, too) had come to the same conclusion: All of my health problems were due to my weight, and if I’d just try harder to fix that one thing, I’d be fine.  I knew they were wrong, but what else was there possibly to do?

I kept frequenting internet message boards and reading anything I could get my hands on that discussed the disease.  I briefly considered gastric bypass as suggested, but then read about someone who had a similar back story to my own that had gastric bypass and only ended up in worse shape – and who eventually saw a particular doctor on the opposite coast from my home who diagnosed her with Cyclical Cushing’s Disease and helped facilitate a curative surgery.  I immediately typed an email to this doctor begging for his help.

We spoke on the phone a few days later and he agreed to take on my case.  I made travel plans and went through a week of testing there.  My pituitary MRI didn’t show a tumor.  Some of my tests were really high, but they didn’t find enough evidence to diagnose me immediately, and he noted that he did not agree with the diagnosis of PCOS.  We agreed that I’d do 24 hour urine collections and midnight salivary tests when I suspected I was in a high cortisol pattern, and I went home with a new resolve.

Trying to discern your personal cortisol high and low symptoms is a difficult game.  I tested for almost two years, and I’m still not sure that I totally know the difference.  Some came back high, but most were normal during that time, including another week-long round on-site at the hospital.  Finally though, I caught a string of extremely high midnight salivary tests that were compelling enough along with the other evidence for him to make a diagnosis: Cushing’s Disease.

After 16 years, I finally had an answer.  And it was just in time; I had started the paperwork to apply for full disability the week before the doctor called to let me know he’d made the diagnosis.  I scheduled  several months off from work for surgery.

I’m happy to report that for me, it went really well.  My cortisol level dropped incredibly quickly after my pituitary surgery, and I was released from the hospital within 24 hours.  75% of my pituitary was removed to insure all of the adenoma that was secreting the excess cortisol was gone, and I was left with panhypopituitaryism – which of course is its own struggle.  I’ll never complain though; my surgery was almost seven years ago now and while I haven’t lost all of the weight, the rest of my symptoms have gotten worlds better over the years.   So much so that in that time, I’ve continued working full time, earned 3 great promotions, started and finished a rigorous graduate program at a nationally ranked university at the head of my cohort, and most importantly began dating and eventually married the love of my life.  I don’t believe much if any of this would have been possible had I have not received the help and treatment that I eventually did, and am thankful every day that this much of my life has been gifted back to me.