The Ordeal

I have been putting off writing this post because I feel like anytime I write about being better I jinx myself, but I figure in this digital age, I can always revise.
As most of you knowI was finally given the official diagnosis of Cushing's Disease in December of 2008 and after much back and forth and waiting on labs and MRIs was scheduled for surgery of Feb. 25th of this year.

What is Cushing's Disease?
Cushing's Disease is a disease of the endocrine system and it is not widely understood or diagnosed. It is estimated that 2-3 people per million are diagnosed every year. Due to its unique nature it is hard to be diagnosed and hard to maintain a cure.

For one reason or another my pituitary gland decided it would like to have a tumor take over its function. This very small tumor (10 mm) would constantly tell my adrenal glands to make a hormone called cortisol. Cortisol is good in moderated amounts. It is the hormone that stimulates the fight or flight response. It allows us to deal with emotional and physical stress. Too much of it causes problems that really suck!

Symptoms vary, but most people have upper body obesity (central obesity), rounded face ("moon face"), increased fat around the neck and on the back of the neck (buffalo hump), and thinning arms and legs.

Other symptoms appear in the skin, which becomes fragile and thin. It bruises easily and heals poorly. Purplish pink stretch marks (straie) may appear on the abdomen, thighs, buttocks, arms and breasts. Boils often occur on the stomach and thighs. The bones are weakened, and routine activities such as bending, lifting or rising from a chair may lead to backaches, rib and spinal column fractures.

Most people have severe fatigue, weak muscles, persistent hypertension (due to the aldosterone-like effects) and insulin resistance, leading to hyperglycemia (high blood sugars) which can lead to diabetes mellitus. Patients frequently suffer various psychological disturbances, ranging from euphoria to frank psychosis. Depression and anxiety, including panic attacks, are common.

Women usually have excess hair growth (hirsutism) on their faces, necks, chests, abdomens, and thighs. Their menstrual periods may become irregular or stop (amenorrhoea). Men have decreased fertility with diminished or absent desire for sex.

Other symptoms include excess sweating, telangiectasia (dilation of capillaries, spider veins), atrophy of the skin (which gets thin and bruises easily) and other mucous membranes, proximal muscle weakness (hips, shoulders).

Untreated Cushing's syndrome leads to heart disease and increased mortality.

Not a fun list, huh?

Getting a diagnosis

You would think that with all that litany of problems doctors would be all over me ready to treat me. Well as I have heard again and again, "Cushing's is too rare, you don't have it!" My first inclination that something was wrong was in 1997. I gained 60 pounds in 3 months without changing my diet, excercise or anything. I got labeled as a closet eater, was told I was getting older and my metabolism was slowing down, was told I had chronic fatigue syndrome, I was depressed, I went to sleep too late at night. I knew something was wrong because the weight kept coming on, and I was so tired I would pull over while driving and wake up 2 hours later.

Jason was in his second year of chiropractic school and came home one night and said, "I know what you have!" They

had been studying the endocrine system and he saw a picture of stretch marks known as "striae". He also saw a picture of a cushing's patient with a "moon face." Aren't they lovely?

Once I had a name, I became a crazy researching woman. I read every article I could find in every journal and online. I joined a support group for cushing sufferers and asked question after question.
I soon found out that although I was convinced about the diagnosis, most of the doctors I saw were unconvinced.
I made the rounds in Connecticut for about 3 years seeing various endocrinolgists. Most would run one test or the better ones 2 or 3 and if any came back normal, I was dismissed as an attention seeking overeater. I was getting more and more frustrated because the weight kept coming on, I was having horrible panic attacks in the middle of the night. My muscles were so weak I could carry my babies for more than a minute at a time. (The weird thing was that during my pregnancies my symptoms would go away. I would lose weight, my face would get slimmer, my stretch marks would fade. But as soon as I had the baby, everything would come back.)

After doing some more research and with some encouragement from my support group (and some help from Bob and Barbara.) I went to LA in May of 2005. Kari flew out with me and I went to see the world's leading researcher on Cushing's disease. Dr. Friedman is primarily a researcher, but he does have one evening a week he sees patients. He met me in his very crowded office and immediatly asked me to do a squat. I tried and fell on the floor. He told me, "If more doctors diagnosed by believing what they could see with their eyes, I would have much less work." (He told me proximal muslce wasting is a hallmark sign of Cushings.) After looking at my labs, he told me we had a lot more testing to go.

He believed that I had a type of Cushing's called Cyclical Cushings which was unfortunately even harder to diagnose. The reason being, that unlike some cases of Cushing's, my tumor would turn on and off and my job was to learn to recognize a cortisol high and low and only test during the highs. I had to chart things like blood pressure which tend to go up during a high, but the confusing thing is that some people have a lot of energy during highs, others don't. Some people are depressed during highs, other's aren't. I began a symptom journal and looked for patterns based on my symptoms and the results I was getting.

I was given open orders for 24 hour urine tests ( a rather annoying test where you have to collect all your urine for 24 hours and keep it in a jug in the fridge.) Midnight blood draws, (you have to drive to the emergency room at midnight to have your blood drawn. Salivary cortisols (you have to spit into a little vial at midnight for a number of days, by far the easiest, but I never got any good results from them!)
I was also given an MRI and it showed a 2-3 mm tumor on my pituitary. Not enough to make a case for surgery, but a step in the right direction.

I tested at home for a few months with moderate success, but because we are talking about brain surgery, Dr. F requires a lot of chemical evidence. Jason and I decided we wanted to have another baby and Dr. Friedman said there was no reason not to try. I stopped with the testing and got pregnant right away with Keaton, waited until I was finished breastfeeding and began testing again like crazy.
It took 5 months of testing, but I finally figured out my cycles and got some cortisol numbers 15x what a normal person should have. I was finally diagnosed.

For those of you interested in the continuing saga, check back soon for more exciting chapters!