Woman self-diagnoses rare disease

I have known many people whose doctors failed to diagnose serious problems--particularly at Kaiser Permanente. It's wise to do some research oneself. Often doctors are too busy to think about unusual conditions. They rely on the sets of symptoms that they're familiar with. In fact, at Kaiser, doctors are expected to rely on fixed lists of symptoms, and to ignore everything else. This way, Kaiser is able to correctly treat a large percentage of people, while improperly diagnosing an unfortunate minority. It's medicine based on percentages, not the Hippocratic oath or professional standards.

Woman self-diagnoses rare disease
October 03, 2012
By RUTH MARVIN WEBSTER
For the North County Times

To look at Chondra Hungerford today, you would never think she had ever been anything but strikingly beautiful.

And yet, last year at this time, she was gaining a pound a week, thick hair had started to sprout on her back, her skin was broken out in adult acne, and a lump of fat had started to form between her shoulders at the base of her neck.

She endured a menstrual period every two weeks, her skin bruised at the slightest touch and people stopped to ask her whether she was pregnant.

After having been a fitness model and personal trainer all of her adult life, such a body transformation was torture for Hungerford, 28. "I was training really hard, eating only fish and vegetables and nothing was working," the mother of two from Vista recalled. "I was turning into a monster."

And though she saw doctors for these and other complaints since being diagnosed with hypertension at age 19, Hungerford's primary-care physician seemed unable to correctly diagnose her condition.

That was until one day early last year, after seeing photographs of her shockingly round face, Hungerford said, "It all came together for me ... I went in to the doctor (the next week) and told him that he needed to order a cortisol lab (test). I knew I had Cushing's."

Hungerford said her doctor remained skeptical that she had the rare endocrine disease, which strikes only two or three people in a million. "I tell him 'I have Cushing's disease,' and he says to me, ‘I hope you do, because everyone who comes in her swears they do and you'd be the very first one (who did).'"

Named for the American neurosurgeon Harvey Cushing, Cushing's disease is caused by a tumor of the pituitary gland, which is located at the base of the brain. People with the disease have too much adrenocorticotropic hormone or ACTH, which in turn stimulates the production and release of cortisol.

Cortisol, the body's fight-or-flight hormone, helps maintain blood pressure, reduces the immune system's response and controls the body's use of carbohydrates, protein and fats. But in excess, it can cause upper body obesity, a full or moon face, acne, unusual purple stretch marks called striae, bone pain, weak muscles and irregular menstrual cycles...

"Chondra is a remarkable young woman," said UC San Diego endocrinologist Joseph Witztum, who recommended Hungerford for surgery. "Being aware of what is going on with you, carefully noting all the changes and using the Web in an intelligent way allowed her to make the diagnosis of a rare disease. She essentially had her doctor collect the needed laboratory data and presented an endocrinologist with the diagnosis and the supporting data. I can only imagine how surprised he was!"

...In April 2012, UC San Diego neurosurgeon Hoi U performed Hungerford's hour-long surgery to remove a 1-millimeter tumor from her pituitary gland.

...Cortisol (like cortisone) has the effect of reducing pain. Having lived with such high cortisol levels and then going to almost none, she started feeling general pain sensations almost for the first time.

Dr. U said that after the tumor is removed, it takes some adjustment for the body to return to producing normal levels of cortisol. "It can be like cold turkey for the patient," he said. "You have to give the patient some cortisone at first to achieve a soft landing. But everybody's (pain threshold) is different as you taper it down," he said with a smile. "That is like being a Chinese chef ... too much soy sauce? Not enough?"

...Indeed, this month Hungerford gave a presentation to a combined medicine/endocrinology conference at UC San Diego at which she presented, in a half-hour "mystery" narrative, the story of her illness.

Many of the young doctors were not able to diagnose Hungerford's disease until the end, and her presentation did highlight some of the fragmentation of our current medical system, said Witztum, adding, "It was an amazing performance and I encouraged her to go into some type of medical-related profession, even consider going to medical school."