Skip to main content

The Challenges of Getting a Diagnosis

I have been asked about this so many times, and talk about it a lot, whenever someone asks me about Cushing's.  So many people have the same experience - KNOWING you have Cushing's, and seeing 5, 10, 20, or more doctors over the course of many years before you officially have a diagnosis.  I would say this is one of the most common links I have with other "Cushies".  We all fought for a diagnosis, heard we were just fat and depressed, waited with hope after every test, until a day came when one test came back high, or a brain MRI showed a tumor in the pituitary gland.

I think the reason I haven't written about it is because it's one of the hardest things to sit down and spend time on.  It's painful, and of course, I can't help but wonder what my life might be like today if I was diagnosed sooner.  Would I have needed an adrenalectomy?  Or for that matter, a second pituitary surgery? Would I have as many health issues after Cushing's?  It's hard to think that a diagnosis even a year earlier could have changed the outcome so drastically.  Or, maybe it wouldn't have.

I gained a lot of weight between the middle of my senior year of high school and the start of college.  Maybe 50 lbs.  I knew I was gaining weight, but hadn't changed my activity level or eating habits (which were both not so great).  I got a horrible case of pneumonia after 2 weeks at school, I had to be taken out of my dorm by ambulance.  I gained even more weight before coming home for Christmas.  I don't think it registered yet that this was not anything I was doing.

My sophomore year, after moving into my sorority, I had my first kidney stone.  A few girls sat with me as I called the health center, then drove me to the ER.  I remember the wheels turning as the ER doctors asked if I had any family history of kidney stones, and when I got home, I started researching.  After a few hours, I stumbled upon Cushing's Help.  I read the list of symptoms and cried, this is what I had, I was so sure.  I told everyone, my friends at school, family, friends at home, and went to my PCP for testing.  I think I was still seeing a pediatrician, so they sent me to family medicine, who referred me to an endocrinologist.  I saw her once, and she called to say that all the tests she had run were normal, which was "so wonderful!".  Another few months had passed, and then I got shingles.  Again, not normal for a "healthy" 20 year old.  I was also in a stressful living situation, so I thought that might have contributed.

I was probably around 200 lbs by now, up from my high school 150.  I felt huge, but started going to the gym with a friend.  I would sweat through everything daily, so wore big sweatshirts to cover the fat, and the sweat.  I saw another endocrinologist, this time at Brigham and Women's, who ordered 24hr urine cortisol tests, which I knew were the best test.  After a few visits, she found nothing wrong and prescribed me a weight loss drug, which I never filled.

I think I had a breakdown at this point.  I felt so abnormal compared to my healthy, fit, and thin peers.    Even girls that ate the same things as I did weren't as big as me.  I started to drive to class instead of walk, risking tickets because my legs were so weak.

I saw a friend's father, who was an endocrinologist, who saw me as a favor, since I was at a dead end at this point.  This didn't turn into anything.

I had been on birth control pills forever at this point, I started them at 13 years old, because of heavy, painful periods.  My periods were lighter, and more regular on OCPs.  At one point, I had been bleeding for 2 weeks, and decided to go to the women's center.  They ran a battery of tests and asked that I use the upcoming spring break to see my gynecologist at home.  By the time I saw her, I had been bleeding for almost a month.  She sat down, and it was clear she had spent a lot of time reviewing my record.  She thought it was most likely due to a problem with my pituitary gland, as my hormone levels were all near 0.  She scheduled an urgent brain MRI for the next day, and agreed to call me as soon as she knew the results.

At this point, I can't even tell you how many times I had asked for a brain MRI, from my PCP, endocrinologists, everyone.

I got a call on Monday morning at 830am, while I was babysitting, saying I did, indeed have a micro adenoma on my pituitary gland.  My mom immediately starting calling for a referral to Mass General's neuroendocrine center.

I cried so much after that call.  The mom of the kids I was watching came home and didn't know what was going on. She was well aware of my health problems, and I think was just as overjoyed as I was at the news.  I told everyone, finally believing I would be Cushing's free in a matter of weeks, maybe I could have brain surgery over the summer so I would be ready to work in the fall, maybe I could live at home for a year to get back on my feet, maybe all of this will be over.

Unfortunately, my journey to get a diagnosis did not end here.  I spent 18 months going to appointments at MGH and seeing a fellow (who sucked, by the way).  I was again, at a breaking point when I saw my current endocrinologist for the first time.  I had a diagnosis in two weeks, and had a scheduled surgery a few weeks after that. You know the rest.

This diagnosis was missed so many times.  I will link a post down below that might help explain the chaos of searching for a diagnosis.  I always thought, if I had leukemia or breast cancer, I would never end up at the 7th doctor looking for a diagnosis.  I probably wouldn't see more than 1.  I think Cushing's, and some other rare diseases are unique in this way, that patients will find the diagnosis years before physicians do.  I think with Cushing's a lot of that has to do with how the patients look.  Obese, depressed, sick men and women (mostly women) get just a glance before the judgment begins.






Comments

  1. Hi, just happened to come across your blog when doing a search for cushings clothing. I suspect I have Cushing's and am getting ready to ask my endo about it. I was looking to see if anyone else had given up on regular sizes and just started wearing pregnancy pants and underwear out of desperation. That's where I am at this point. I have already found that my tankini barhingsuit works a lot better with the bottoms worn backwards since my abdomen is so much larger than my butt. I'll be reading back on your earlier posts for any help in getting my endo to not blow me off.

    ReplyDelete
  2. I swore by maternity jeans when I had Cushing's. I looked so much better in them because I could buy a size 10 to fit my legs but had the stretchy part to fit my stomach. I like the Liz Lange line at target, and it's not too expensive, and also like old navy's online selection, again, it's cheap! I wish you luck getting diagnosed, this is the hard part. Let me know if I can help.

    ReplyDelete
  3. Hi I was just wondering what you did to get the diagnosis. I have seen only one endocrinologist over the last year. I have done many urine test, saliva test and blood tests. The only test that came back adnormal is the 24 hour urine test. I have done about 5 test each coming with different results. 3 have come back with high cortisol but never extremely high like 2 to 3 times the normal levels like the doctors are looking for. Also I had extremely high creatine and once I had high testosterone. So my doctor did the next step for testing for Cushing, which in her opinion was DexCHR study. In this test I took dexamethasone for 3 days a couple times a day and then on the last day I went in and they injected me with a steroid and took my blood. I guess my levels were extremely high, higher than most people diagnosed with Cushings. So nest step was an MRI and it showed I had a 4mm by 4mm tumor in my pituitary glad. So here I am thinking its time for surgery and get my life sort of back as much as I can but the doctor has me doing more urine test saying that these test I have done still does not mean I have Cushings therefore she wants to make sure. So she has me doing more 24 hour urine tests. I told here I want to do the sinus sample to rule out Cushings or not but she still wants me to do more urine test and now a sleep study? I'm at the point now where I need to get a diagnosis and surgery on its way. But I just don't know what to do the only thing I can think of is find another doctor. So I was wondering if you had any advice or suggestions because right now I'm pretty stuck on what to do next. Thanks for your time and your story, it's nice to hear other people know what you are going through.

    ReplyDelete
  4. Hi I was just wondering what you did to get the diagnosis. I have seen only one endocrinologist over the last year. I have done many urine test, saliva test and blood tests. The only test that came back adnormal is the 24 hour urine test. I have done about 5 test each coming with different results. 3 have come back with high cortisol but never extremely high like 2 to 3 times the normal levels like the doctors are looking for. Also I had extremely high creatine and once I had high testosterone. So my doctor did the next step for testing for Cushing, which in her opinion was DexCHR study. In this test I took dexamethasone for 3 days a couple times a day and then on the last day I went in and they injected me with a steroid and took my blood. I guess my levels were extremely high, higher than most people diagnosed with Cushings. So nest step was an MRI and it showed I had a 4mm by 4mm tumor in my pituitary glad. So here I am thinking its time for surgery and get my life sort of back as much as I can but the doctor has me doing more urine test saying that these test I have done still does not mean I have Cushings therefore she wants to make sure. So she has me doing more 24 hour urine tests. I told here I want to do the sinus sample to rule out Cushings or not but she still wants me to do more urine test and now a sleep study? I'm at the point now where I need to get a diagnosis and surgery on its way. But I just don't know what to do the only thing I can think of is find another doctor. So I was wondering if you had any advice or suggestions because right now I'm pretty stuck on what to do next. Thanks for your time and your story, it's nice to hear other people know what you are going through.

    ReplyDelete
    Replies
    1. Hi Allison! Thanks for reading. It was so incredibly hard to get a diagnosis. I often say that was the hardest part of Cushing's! The surgeries were nothing compared to the amount of time spent on trying to get a doctor's diagnosis.

      For me, I first had to find an endocrinologist I thought I could trust, and immediately when I first met with her she did say "I think you have Cushing's, we just have to have some high test results". So knowing she believed me helped a lot. I also did a ton of research, as a lot people do when they believe something's wrong. Eventually, I was diagnosed after testing for 1 month straight. Urinary free cortisol and midnight salivary cortisol tests multiple times a week, and in that batch, I had a few high tests, and went on to have an IPSS which was positive on the same side as the tumor on the MRI.

      It is so hard. I wish you so much luck and strength :) Let me know if I can help!

      Delete

Post a Comment

Popular posts from this blog

Plastic Surgery

When I was 17, I thought about getting a breast reduction.  I was still pretty thin at this point and it bothered me to by bigger clothes just to fit my bust.  I had a hard time exercising and always had back pain and grooves in my shoulders where my bra straps sat. I had a few consults with different plastic surgeons and ended up scheduling surgery for the week before my high school graduation.  I ended up "chickening out" because I didn't want the surgery to have any impact on my graduation, and I hadn't had any major surgeries before.  I started gaining weight due to Cushing's shortly after, so it worked out for the best in the end.

Now, my breast size has gone way down since I've lost weight, and even though they are still bigger than average, they don't get in my way as much and are more proportional to my body. These days, my plastic surgery dream is to have a tummy tuck.  I have a lot of excess skin on my body, especially on my belly, and in a drea…

Cushing's Awareness Challenge - Day 9

The only potentially permanent treatment for Cushing's is surgery.  Whether you have a pituitary tumor, adrenal tumor, or ectopic source of ACTH, most often, you will eventually need surgery.

For me, the first step was a pituitary surgery to try to remove the tumor in my pituitary gland. They went through my nose to access the pituitary gland, which means you have no visible scars after.
I was very nervous heading into the surgery, but didn't have much time to dwell on it, as my surgery was scheduled about a week after my IPSS.  I talked to a lot of people before, about their experiences, and heard vastly different stories from each person.
The only thing I remember from before my surgery was being rolled down what looked like a basement hallway (all concrete), while passing maybe 30 operating rooms.  I saw patients in the hallways on stretchers waiting for surgery, I saw into the small windows in the doors to operating rooms, it was a very scary experience.  Obviously, not ev…