In 2009, two major milestones occurred that lead to my diagnosis. One, I had an appointment with a gynecologist, and I started from the beginning of my story with him…a doctor with a fresh perspective. I lamented that I knew none of my problems seemed catastrophic on their own, but I felt certain that one day someone was going to tell me that all those quirky things were being caused by one big thing…and that when that time came it was going to be too late for doctors to say “oops, sorry.” At this time, I was 140 pounds, normal by medical standards, but 20-30 pounds more than I felt I should be. I continued trying to convince him, describing to him the great deal of effort that I was putting into eating better than I ever had before, and working out almost daily. It just didn’t add up. No matter how hard I worked, I was always gradually gaining. For the first time, a doctor looked at me with concern, and he said, “You may be right.” He referred me to a new family doctor who was officially not accepting new patients. I believe that my gynecologist pulled some strings and tussled with some people to make this transition happen since there was some stink that the old and the new family doctors were essentially part of the same medical group. In looking back over this pivotal visit, I believe from the look on his face and the concern in his tone, and his genuine interest in me, that perhaps my gynecologist knew on that day where I was headed. I also wonder if he suspected my diagnosis, but maybe he just wasn’t willing to be the one to throw out a crazy diagnosis of Cushing’s Disease on a size 10 woman. The new family doctor, to whom I was referred, was like a breath of fresh air. He really listened, and cared. He never passed off any of my concerns, no matter how seemingly small.
The second turning point occurred at the same time. I had a friend who lived in Alaska, who had been away for years, and we had gotten together for coffee. I told her about my visit to the doctor, as I was excited to share the news that something was perhaps really wrong with me. I know that sounds crazy, but that is how I felt. Once the door was open, Noel said to me “Shannon, you do not look like you have just gained weight. You look puffy and swollen, like you have been stung by a bee. You don’t even look like yourself.” She pointed out what I had been thinking for years, that people gain weight all the time, but they don’t look like I did. I knew she was right about my face, but I guess I had grown into it both physically and psychologically, so I had forgotten how incredibly different it was. I think it was the next day that Noel called me with a diagnosis. She told me to get on-line and look up “Cushing’s Disease.” I couldn’t believe it. I was the poster child for this disease, minus one hundred pounds. Despite not being obese, I knew I had significant weight gain. For me it had happened over seven years instead of suddenly, but I was working out and monitoring calories like an obsessed person. I had the shape to fit the diagnosis…all the fat in my gut and my back. I found out that my medical symptoms were called “buffalo hump” and “moon face.” How flattering is that? An irregular menstrual cycle was listed as a symptom. Stretch marks, which I thankfully only had a few of, were not simply occurring because I was gaining weight, but because the skin is fragile and bruises easily during Cushing’s Disease. Frequent bruising was listed, and I had originally told doctors “no” when they asked if I bruised easily. However, when the symptoms were right in front of me, all on the same list; I thought, yes, I guess I do. I always had a reason for my bruises, so it never occurred to me as being abnormal. I discovered other things on the list that I did not even know were wrong with me, but they were. I was constantly up several times per night, often needing only a few hours of sleep, yet during the day I was severely tired. I thought it was simply lack of sleep. I didn’t know it was because I was hopped up on steroids and crashing at inconvenient times. I realized, when looking at the symptoms list, that it was not normal that my back was always hurting and that I could not ride in the car for thirty minutes nor sit at a table to play a card game without experiencing terrible back pain. Doctors had me so convinced that I was just getting old, that I never realized this pain was abnormal. Elevated blood pressure was on the list too. The more I read, the more pieces started coming together…even pieces that I didn’t realize had been going on. I contacted my new doctor right away with my best friend’s diagnosis, asking that he please test my cortisol. Again, I felt like a hypochondriac. Cushing’s Disease is so rare, how could I even begin to think that was my problem? After all, Cushing’s Disease only occurs in 10-15 people per million per year. However, I was so sure that I fit the bill. I was excited, happy, and ecstatic with hope that this was, in fact, what had been wrong with me for seven years. Sure, it could mean I had a brain tumor, but I couldn’t have been happier…it meant I could have someone else fix this for me, and I didn’t have to keep trying to fix it myself.
The official diagnosis was a long, tedious process. First I needed a 24 hour urine sample. I actually had to take off work so I could pee in the same cup all day! My cortisol came back at 220. If I recall 4-20 is approximately normal with anything above 50 being concerning. Next, the doctor wanted a retest to confirm as plans were being made for a referral to an endocrinologist at Hershey Medical Center. My second test, a week later, was 320. The next set of tests blends together in my memory a bit. I know I had the MRI to confirm a tumor. Then I had to have the special series of blood tests to confirm that the tumor was indisputably the cause of the high cortisol. I found this to be very annoying. I wondered, if there was a tumor in my brain, if I had high cortisol, and I had so many symptoms consistent with Cushing’s Disease, wasn’t that enough? Would they have left the tumor in there if the numbers didn’t add up? This feeling of annoyance was magnified when I learned that my results were border-line (could have been considered normal) and another test would be necessary to produce academically indisputable results before proceeding with surgery. All the while, I was getting worse. I am not sure if it was because I knew what was wrong so I could see it more easily. I am not sure if it was because I was so stressed preparing for surgery, including six weeks off work all while simultaneously losing my step-father to cancer. Perhaps stress made the tumor more active (since cortisol is a stress hormone). That personal hypothesis of mine has not been confirmed by any doctors. I just know that during those last two months, I gained a pound a week, and I looked monstrous in my face. Maybe it was simply because I gave up killing myself with work outs, knowing that help was on the way. Finally, I got to have my consult with the brain surgeon. I thought I was back to square one, when he gave his report. I fought to maintain my composure as he explained that he was not able to identify a tumor on my MRI. My heart sunk as I protested, “The endocrinologist gave me a measurement. What could she have measured if you can’t see anything?” He further explained that many things can create and indiscernible mark on an image that is not a tumor. In my mind, I had images of having to be literally destroyed before someone would help me. Within moments though, I realized that what he was telling me was that he was going in to get the tumor, but that he would not be able to use the MRI to find it. In other words they were going find the tumor during the surgery.