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Mystery Illness

What happens to someone when they have an illness that no one can diagnose or treat? It is an all too often scenario in America, one that occurs daily in our region of the country. I suspect there are other regions of our country that are worse.

When I was in residency in Cincinnati, Ohio, there was a physician in our training program who was known to diagnose rare illnesses. His name was Dr. Velter. He had a knack for looking at the patient’s history and their clinical laboratory test results and coming up with a diagnosis that no one heard of, much less considered. I was always amazed at his insight and willingness to listen to the patient and think outside of the current conventional wisdom.

Several weeks ago, a middle-aged woman came to the Stone Institute wanting someone to hear her health-related biography and diagnose what appeared to be a complex medical problem. She was in her late fifties and about sixty pounds overweight. She had seen multiple area physicians practicing in multiple specialties. None of them could give her any advice; she was simply told she had to eat less, exercise more and see a psychologist. Every physician told her that her falling, weakness and cognitive dysfunction was all in her head. She had only been ill for three years. Before the onset of her disturbances, she was very active in her social life, worked out religiously and maintained a healthy food plan. It was a mystery of all mysteries.

Without going into minute details, after I discussed her medical history, it was clear she was suffering from some undiagnosed auto-immune disease. Her illness had several different overlapping manifestations that created overpowering complexity. I realized she did not have one illness causing a multi-system disease. She had several illnesses which created the illusion that a single disease process was progressing and affecting numerous bodily functions. I am sure that each medical specialist she saw mentally checked out within two minutes of their history taking since they rarely have time to tease out the details of multi-system involvement. They find it easier to just ignore the facts and create a less than accurate, but convenient, diagnosis. Treatment failures are common in this kind of problem. Sometimes the wrong therapy is worse on the patient than the disease or diseases themselves.

As I reviewed her laboratory test results with her, I saw her engage mentally. Sadness and hope consumed her at the same time. Her daughter was just as engaged. When I showed her the results of her viral testing, she began to cry. It was difficult to show her the truth about her illnesses because for so long she had been told to seek psychological help and forget that she was suffering.

One of her problems was that her thyroid gland was incredibly dysfunctional. Most of her physicians checked her Thyroid Stimulating Hormone (TSH) and told her she had a normal test result; therefore, her thyroid gland was functioning fine. For anyone interested in getting an education about thyroid gland function, please read the review article TSH and Thyrotropic Agonists: Key Actors in Thyroid Homeostasis; Johannes W. Dietrich et al.; Journal of Thyroid Research; Volume 2012; 29 pages. Three German physicians authored the article. They elucidate the complexities of in-vivo thyroid regulation, explaining that TSH levels are almost useless in determining the physiologic health of thyroid regulation. The Free levels of Thyroid Hormones (T4 and T3) are the most important factor in determining the health of thyroid gland activity as well as accepting a non-linear model of individual normal instead of population-based normal. The Germans recommend liberal thyroid substitution therapy if any form of thyroid imbalance occurs.

Furthermore, they acknowledge the use of T4 and T3 in combination treatment as appropriate and efficacious in certain patient populations. I have not read reviews from American authors that are as comprehensive and complete as the Germans. Why am I not surprised? The specialists in our area are still embracing the linear algorithms established almost one hundred years ago. Scientists around the world have proven that thyroid hormone homeostasis is non-linear, as is all hormone regulation in our bodies (I refer to non-linear as fractal). If our area physicians and specialists cannot accept that a TSH level more than 2.5 mU/L is problematic for the patient and the intraindividual variation of TSH levels is much narrower than the width of the population-based reference range, then they should find another area of medicine in which to practice. They are out-of-touch by sixty or seventy years.

Thyroid substitution therapy was just one aspect of this patient’s care plan. She had to change her eating habits, reduce stressors which were responsible for her elevated cortisol levels and follow a strict antiviral and antibiotic regimen to treat several underlying clinical and sub-clinical infections. Her elevated cortisol levels depressed her immune function which increased her susceptibility to chronic active subclinical infections which lead to an autoimmune disease.  

The mystery illness was more of a mystery as to why her previous physicians continue to ignore the scientific advancements we have made globally over the past twenty years and practice medicine based on old, archaic constructs. The internet allows patients to research their signs and symptoms, their diseases and review journal articles that are pertinent to their conditions and disturbances. Physicians typically ignore the clinical data patients bring to their doctors’ offices, asking patients to stay off the internet and remain ignorant about their diseases so the doctor can have complete control of the patient’s option-restricted treatments. I have personally sent articles to specialists about new treatments or changes in therapeutic algorithms related to individual patients, only to have the information dismissed, being told by them: I don’t believe the data.

What happened to the curiosity we all had in medical school and residency training? Why would any physician ignore current basic science research to continue to practice with old clinical constructs? Why would a physician not take the time to get a complete and thorough medical history to help guide them in their search for diagnosis or diagnoses of their patient? Why do physicians who are in the dark about a diagnosis dismiss a patient’s symptoms or insult another physician trying to find the answers and offer treatment options which those condemning physicians are unable to take the time to understand or even care enough to seek out alternate ideas about the patient’s illness?

The mystery continues.

Doc

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