Since I was a young teen I have had endocrine problems. I was diagnosed at 13 with PCOS. I have seen an endocrinologist every 6 months since that time, I am now 39 years old. I spent all of my teen and younger years on a cocktail of medications for PCOS- birth control, spironolactone, metformin, & occasionally dexamethasone when my testosterone levels were too high- taking a very small amount (2mg) of steroid stopped me from overproducing. I have always struggled with my weight, but was never morbidly obese. I had severe hirsutism on my face, and as years passed it worsened and spread to most other parts of my body. I regularly exercised and ate well because I had self image issues, and an unhealthy view of my body. Even with all the exercise and strict eating habits- I was always on the plus size.
Each time I would see my endocrinologist; It was usually a lecture about how I am not eating the right kind of healthy food. Over the years I’ve been told that eating plain unsweetened oats and fruit was too many carbs, I should not eat any fruit because its too high in sugar and carbs, I cannot have any bread for the same above reasons. I began to fear food, because every time I thought I was eating healthy- they would tell me otherwise. I restricted my diet and became plant based for over 5 years. No fruits only berries, no meat, only beans, legumes, nuts, and seeds; all vegetables no bread. And yet all those years my labs never showed any improvement in my levels. Then I was being corrected by my endo again that being a vegan isn’t healthy, that beans are too high in carbs, and I need meat and lean protein… No matter how hard I tried to “fix” my health and try to listen to their advice, in the end- it never mattered what I ate; if I wasn’t losing weight in their eyes- then they just believed I had to be lying.
On top of weight and other symptoms, I would tell them every visit I just felt something else was wrong. I never felt good, but I was active and healthy, and should feel good! I would always get questioned, like I lied about my lifestyle, maybe i’m not as active as I think, or maybe i’m not resting enough. I would get the blame put on me that my hormones and labs didn’t look good. The medical advice was always eat less carbs, exercise more, and take meds regularly, get at least 8 hours of sleep. What was sad is, I was doing that, but they never would believe me! I am intelligent and educated, with a successful career, a husband & 3 healthy children, but they made me feel like everything I knew was wrong. I hated feeling not well, I would have done anything to feel like myself again. I was overwhelmed feeling like no matter what I did- I kept seeing my body change into a monster, even with all the lifestyle modifications. I was doing absolutely everything I could to just feel better!
A little health background, and my first subtle signs of concern besides what was explained above, is that I have always been a runner since my late teens and early adult years, before children. But as I reached my mid twenties I started noticing my joints seemed to be failing, and getting weak and unsupportive. Over years, slowly, my heart seemed to not recover like it should when I exercised. I was noticing I would gain weight up to 10 lbs in a weeks time or less, for no reason. My belly constantly seemed bloated, and I looked pregnant. I would get severe eye twitches no matter how much sleep I got, and it wouldn’t stop even when I eliminated coffee. Some days I felt so “off” and not well mentally and physically I just thought I was dying.. other days I felt great; and it would change sometimes month to month. I would gain weight and have weird symptoms one month, and then all of the sudden I would lose a ton of weight; without changes in lifestyle and feel great! Then it would flip the other way again. This was my life most of my late teens and 20s. Then I had children in my mid and late twenties. After my second pregnancy my hormones were just not right. I kept seeing my endocrinologist telling him weird things I was noticing; but again my symptoms were always downplayed. I was always given that “you’re a mom now” talk- that I am a stressed mom now with 3 kids, and not getting enough sleep, that I probably have stress and anxiety. I’m probably snacking more- and not sleeping enough and since I had twins; the hormones will take longer to regulate. So again I trucked on; being a working mom and then working again at home with the kids, feeling like hell everyday- but faking it like I was not.
One starts to think, maybe I am really going crazy, maybe the doctors are right!? This back and forth continued from ages 27-33. I was noticing more and more that my heart would feel like it was randomly going to pound out of my chest, when I was just sitting. Then it would just stop and go back to normal. I was constantly gaining weight distributed weirdly on my frame; my body was not mine anymore- I looked at myself like a stranger in the mirror. My heart raced at odd resting times, hot flashes worsened, my upper back and neck hurt like crazy, and I would lay on a heating pad and try and massage it. I noticed my eye twitches just became a normal all day long occurrence, joint pain sometimes was just unbearable, stomach and GI issues started to occur daily with urgency, and I kept getting random weird unexplained infections, reccurrent staph skin infections, and bladder, sinus, ear, and kidney infections. I had never been so chronically ill in such a sudden, short, consistent period of time; most of the above happened the last year before my diagnosis. I have had none of the above since I reached remission 6 years ago.
One day in January of 2015 while at work; my heart started its crazy pumping. but this time it wouldn’t stop. I felt terrible; we checked my bp… it was 180/165. I have never had high blood pressure and still do not. My BP has always been low and or normal my whole life, up to that day. I went to the hospital and stayed there for 3 days undergoing every cardiac test under the sun. My BP would sky rocket, and seconds later it would drop, my resting heart rate would soar and then drop… they then questioned my husband; do I take drugs, alcoholic, panic attacks, anxiety, have I ever tried anxiety meds- would I like to try one now… Until magically the man who literally saved my life arrived: the cardiologist (yes I said it a cardiologist- not my endocrinologist!? How terrible is that!? My own endo couldn’t diagnose my endo disease, but a brilliant cardiologist could see the signs all pointing in that direction!) I was so fortunate to have a wonderful cardiologist, who recognized how healthy my cardiac health was- he listened, understood, and he believed me! After all the testing in the hospital, and observations for 48 hours- he finally looked at me and said, “this is not your heart; something is telling your heart to do this. I cannot stop this from happening, but if we don’t find the problem, this will kill you.” He kept telling me it has to be an endocrine problem- and he wanted me to see and endocrinologist the next day. After telling him I have been seeing the same endocrinologist since 13 yrs of age; he called him immediately.
The very next day, I had an appointment with my endo. For the first time, he listed a bit more without giving me much rebuttal. He still downplayed that he didn’t feel this is an endocrine issue; but this time he said he would run more labs different than others I have done. I had months of many labs and repeat of all the same ones, two or three times over. After 3 months of testing- something still seemed “off”; some labs came back normal, but lots of those same labs came back abnormal at times. My Endo then told me he thinks I could have something called Cushing’s, but he didn’t want me to look into it just yet, because he was not convinced that I had it. He explained in depth that people with Cushing’s have very specific characteristics, and are very ill, and that I did not have those “characteristics” regardless of the fact that I’d been telling him I felt terrible for years.
I was referred to a Cushing’s pituitary specialist. I couldn’t wait to meet this new doctor. I read all about him, he has specialized in Cushing’s disease for most of his career, and also wrote many articles and case studies about Cushing’s. Finally hope of getting my life back was very near! But, upon meeting this specialist, he walked in, introduced himself to me and my family, and looked me dead in the eyes and said, ‘I am very sorry to say this, but I do not believe that what you’re experiencing is Cushing’s”. He also explained very kindly about Cushing’s, the symptoms, and why I did not really fit with that diagnosis. He did agree to repeat some other tests after all my sobs and tears, and listening to the concerns of my husband and mother. He also let us know he did highly respect the referring doctor, and cardiologist I had seen. He felt they had enough concern to refer me, so he also would do an in-depth MRI scan of my pituitary.
After completing his series of tests; I was called back to his office and finally received my diagnosis. Not only is Cushing’s rare, but I had an even more rare form of it…. cyclical primary Cushing’s Disease. Since I wasn’t always in a high cortisol state, most of my symptoms would come and go. I never had the big hunchback, I went through stages of puffy/moon steroid face, to normal face, no thinning skin, no weakness in arms or legs, no bruising, just joint pain. I also never had purple striae or any stretch marks. I looked plus size, but not morbidly obese, and sometimes I would “slim” down. He was kind with his words, and also apologized to me for the hard long road I had traveled to get to this diagnosis.
Shortly after meeting with him and going over what the treatment plan would look like moving forward, I got a second opinion on how to treat this new diagnosis. The surgery would need to be done by someone who had much success in this exact procedure. So we chose a surgeon who had much more experience, but was at a different prestigious medical institution. This surgeon wanted me to work with his endocrinologist first to double check that the tumor on my MRI was indeed a concern, and was secreting hormone before he would do the surgery. I went through the same hell with this new endocrinologist, not agreeing I had Cushing’s. I had an organized binder with all 6 months of lab results, doctors notes, and scans, that he would not accept. The new facility had me go though 6 months of the same testing all over again. All those jugs of urine, all the midnight salivary cortisol tubes, dex suppression tests, scans etc. by January of 2016 – one year into testing, the second medical opinion confirmed; I indeed had cyclical primary Cushing’s disease.
I had transsphenodial surgery in April 2016 for a microadenoma 3mm in size that also included the removal of the whole left half of my pituitary. I was fully weaned off all post-surgical steroids slowly by November 2016. The remaining right side of my pituitary is functioning as a whole, with both anterior and posterior still intact; I am not on any supplementation. Post-op lab results confirmed remission, and the pathology of the tumor was ACTH hormone secreting tumor.
I honestly have never felt to be completely in remission… No huge “before & after” photos; they say because I still have PCOS, and so many of my symptoms still remain. But my heart issues are gone, and I no longer have that daily sick feeling like I cant function. I’ve moved on with my life and am enjoying this new normal. I do feel I still cycle from time to time- but again, getting them to listen is still a problem. I am concerned that if it comes back, it will have to grow large enough for them to not deny it’s back again. And of course have all the labs showing enough abnormalities to agree. Looking back on labs- I had signs of Cushing’s in bloodwork for 10 years before my surgery. I had about 10 years of cyclical ACTH elevations. Think about that- 10 years of feeling sick, but having the ones who can help you not listen. That does major damage to a person, their families, & friends. We must do better.
I still have a passion to do more to help educate our medical profession of what Cushing’s looks like. We are not all textbook cases, but suffer the same. Disease progression does not show the same in everyone- why are there still doctors out there with outdated or incorrect diagnostic methods? We need more patients to speak with doctors, and we need more doctors to listen to what we know our bodies are telling us. If we can start making these changes in the medical profession, so many patients would get a correct diagnosis early on- instead of treating them when their body has already suffered for so long; that they look like the monster shown in the textbook of what is Cushing’s. We need to be heard, we need to be able to educate upcoming professionals, and support one another as a team.