I’m the Original Zebra. That means I started something which folks on Facebook with the debilitating disease of Cushing’s Syndrome and Disease latched onto and made their own. There is a medical axiom taught budding new doctors in many medical schools. The saying is “when you hear hoof beats think horses not zebras.” The idea is that a given set of symptoms are most likely to be the more common or obvious problems than the rare. Well I’m a Zebra. I’m the face of Cushing’s syndrome.
What is Cushing’s Syndrome?
Cushing’s Syndrome is a rare disease with an occurrence of one in millions. Here in the united State we number a few thousand. We are so rare that even specialists in endocrinology are often taught they may practice their entire careers without seeing one of us. And that is a big problem for us.
With Cushing’s Syndrome the body produces too much of the hormone cortisol than the body needs or can handle. That will cause the following symptoms:
· Profound or even morbid truncal obesity (the most obvious symptom)
· Round, or “moon” face
· A fat pad on the upper back (often called a buffalo hump)
· Stretch marks which are purple when fresh or may even continue to stay purple of pink
· Excessive sweating
· Weakness and muscle mass loss
· Hirsutism (large amounts of body hair)
· Baldness and or dry and brittle hair
· Thinning of the skin
· Tiredness, irritability and even mental problems
· Reduced libidity, or sexual desire
· Problems with periods in women
· Excessive urination and thirst
· Type II diabetes secondarily
· Weakening of the bones due to osteoporosis
And this list is by no means complete as anyone with Cushing’s can tell you. One also doesn’t need to have all or even most of the symptoms together to have the disease.
What causes Cushing’s Syndrome?
Simply put Cushing’s Syndrome is caused by tumors. And the location of the tumor is the difference which determines whether doctors call it Cushing’s Syndrome, or Cushing’s disease. The two most common places to have the tumors which cause Cushing’s are the pituitary gland at the base of the brain and the Adrenal glands, glands which sit on top of the kidneys. In both cases the tumors produce a hormone messenger for the Adrenal glands to make more cortisols, ACTH. The runaway production of ACTH causes the Adrenals to pump out massive doses of cortisols and the games begin. The treatment for these tumors is to find them and surgically remove them.
However, there is a third category of tumors, ectopic tumors. That is my problem in particular. Those tumors can be anywhere in the body, literally. However the most common place to find them is in the lungs as a form of cancer. That’s not where mine is and it has defied all efforts to locate it so far. Traditionally the treatment for ectopic Cushing’s if the tumor cannot be found is to remove both Adrenal glands and place the patient on hormone replacement therapy (HRT). However that isn’t indicated in my case. Why?
My Cushing’s Syndrome is an even rarer kind. My overproduction of cortisols is only some of the time and even practically stops altogether part of the time. This is known as Cyclical Cushing’s Syndrome, what used to be called “mild” Cushing’s Syndrome. I get both the problems of Cushing’s Syndrome and its opposite disease, Addison’s Disease, the disease John F. Kennedy suffered from, but in what are considered milder ways. Never mind I’m 353lbs as I write this and have back degeneration to the point my sciatic nerves is seriously pinched on both sides at times. The end is the same, it’s just that the road to death is longer and drawn out. Both diseases, by the way, are lethal if left untreated as mine is.
Generally speaking Cushing’s Syndrome isn’t some thing you can inherit. However an inherited version called Familial Cushing’s Syndrome is known and extremely rare. One of my brothers has Cushing’s Syndrome with and ectopic tumor like mine and there is evidence my mother, an Aunt and their Mother all may have suffered from this disease. So mine is triply rare, which is why my Facebook Avatar is a zebra striped Rhinoceros.
The most common form of Cushing’s, though, is what is called exogenous, or medically induced Cushing’s Syndrome. It simply comes from long-term use of high doses of steroids, most commonly cortisone, prednisone and other similar medication. That’s the kind most easily accepted by doctors and one simply has to weight the benefits of continued therapy against the problems with Cushing’s and take the lesser of the two evils.
If your doctor agrees your symptoms suggest Cushing’s you get sent to a specialist in endocrine disorders, and Endocrinologist. The endocrinologist will order testing of your hormones to try to determine if you have Cushing’s. However, don’t forget the ditty about the hoof beats. Doctors often won’t think outside the box and will look for more common problems such as PCOs (Polycystic Ovarian tumors) in women. I’ve personally seen both General practitioners and Endocrinologists look right at testing results indicating Cushing’s and deny what they were seeing. It’s hard being a zebra. I’ve known about Cushing’s Syndrome and that I had the symptoms since 1983. It took me until 2000 to get a diagnosis and the only treatment for the disease I’ve had since then was a recent removal of a tumor which could’ve been the cause. It wasn’t. Disappointment and frustration often goes with the territory when one has a rare disease.
In the meantime I’ve been hospitalized with a pulmonary embolism, to have my gallbladder removed, for blood clots and to have a bone spur removed, all likely due to the Cushing’s. I’ve been socially shunned by friends and family because of my large size. And my closest family ties are strained as I grow physically weaker and am in and out of the Emergency room for other growing problems as my body literally comes apart right around me as the ravages of this disease advances.
This blog will be about Cushing’s Syndrome and about my journey with this disease until I either find the cure, or reach the end of the journey. It is my earnest hope that those who find this blog will be informed on the disease, especially in the midst of this new “war on obesity” which threatens to make the Journey even harder and that some will find inspiration as well from a long-term suffer of this disease who is also a fighter.