When Life Hands You Lyme?

After two years of cycling between ten percent and fifty percent of my former cognitive and physical capacity, I have progressed little but learned much. I have acquired more knowledge than I can currently process about my own health, the myriad families of medical conditions that can cause neurological complications, and the problems that plague the healthcare industry itself. In this article, I will elaborate on some of the horrifying discoveries that I have made on my medical odyssey.

The Undiagnosed

Like most professions, medicine has its pet aphorisms and metaphors. One that I have repeatedly encountered is “When you see hoof prints, don’t think zebras.” This philosophy’s usefulness is obvious. We live in a world in which a tiny fraction of the known diseases cause the lion’s share of health maladies. A doctor that can only track horses can successfully diagnose the majority of his/her patients. Still, this is of little use to the minority of patients afflicted by rare diseases.

After presenting with neurological symptoms, I encountered a startling number of physicians, including neurologists who essentially said, “your MRI indicates neither multiple sclerosis nor a brain tumor, you’re fine!” One endocrinologist suggested that because I could solve the square root of forty-nine, I was in perfect health. Only after producing an abnormal EEG, did doctors begin to consistently take m problems seriously.

It should not be possible for a patient to suffer from profound cognitive deficits, a lack of orientation so debilitating that I struggled to identify the day of the week, and loss of motor coordination so staggering that I can no longer throw a baseball to continually be met by a combination of dismissive sneers and shrugged shoulders with no further advice or direction offered beyond either a “nothing’s wrong with your” or a “something’s clearly wrong but darned if I know what it is.”

On the television show “House”, Lisa Edelstein’s character, “Cuddy,” often alludes to the fact that hospitals don’t actually have departments of diagnostic medicine. For most patients, this presents no problem. A simple diagnostic algorithm can enable any internist or specialist to identify most of the diseases associated with their field. But many patients fall through the cracks, afflicted by diseases whose rarity encourages ignorance or whose rarity to cost of test ratio discourages from doctors from considering the possibility, even after all the horses have been excluded.

Sadly, not only is there no Doctor Gregory House, there are few if any departments dedicated to solving the cases that elude most doctors. Even at the Mayo Clinic, where strong cooperation takes place between different departments, there is no clear destination for systemically ill patients looking for answers.

Three such diseases that elude most physicians are Lyme disease, Whipple’s disease, and undifferentiated autoimmune diseases. Lyme, I will address in more detail in the next section.

Whipple’s disease is a systemic infection caused by the bacteria Tropheryma whipelii. Causing joint problems, gastrointestinal problems, and neurological problems, the disease can present in many different ways and is often either missed or confused for an autoimmune disease. Further complicating the diagnosis is the positive response that many patients have to corticosteroid therapy. Even worse, the rarity of the disease and the difficulty of testing (intestinal biopsy) lead to late diagnosis in a disease whose outcome can be highly dependent upon the timeliness of treatment.

Undifferentiated autoimmune diseases present another category of maladies that are often missed, or left untreated due to holes in the diagnostic process. Autoimmune diseases unlike infections or cancers comprise a spectrum. Certain symptoms and serological markers can cluster together, leading to classifications of diseases such as lupus and rheumatoid arthritis whose specific boundaries are unavoidably arbitrary. Some patients meet the criteria for multiple autoimmune diseases but lost in the shuffle are those who experience symptoms of many but don’t quite satisfy enough criteria to be diagnosed with any one. There appears to be a group who suffer from encephalopathy similar to CNS lupus but meet neither the criteria for Lupus nor Sjogren’s, nor any other autoimmune disease established to present with neurologic dysfunction.

Conflicts of Interest

Lyme disease presents with all of the diagnostic pitfalls that accompany these other maladies but additionally exposes the unsettling interference of both the health care industry and the pharmaceutical industry on the establishment of guidelines for the care of ill patients.

A tick-borne illness endemic to the Northeast United States, Lyme disease is well understood in its early stages. Caused by a spriochete, borrelia burgdorferi, Lyme (also called Borreliosis) often causes a characteristic rash (erythema migrans) shortly after infection and can be treated effectively early on with a short course of antibiotics.

Doctors, however, are deeply divided over the consequences and proper treatment protocol for the resulting disseminated systemic infection from untreated Lyme. Some hold to the idea that Lyme can be treated with a short course of oral antibiotics and insist that any persistent symptoms are attributable to an inflammatory response. Others are convinced that the continuing symptoms as well as the clinical response of patients to longer courses of antibiotics are indicative of a persistent infection.

While I do not yet consider myself qualified to weigh in heavily on the debate, I know enough about the role of financially motivated parties in the debate to be deeply disturbed. On one side pharmaceutical companies manufacturing antibiotics have an obvious interest in the aggressive treatment of the disease (longer courses of more potent intravenous antibiotics). Even more disturbing however, is the active role taken by the health insurance industry to form restricted treatment guidelines. Eager to protect their monstrous profits, the health insurance industry has funded studies to support its claim that a more aggressive treatment course offers no greater prospect for recovery. Consequently, the literature is filled with cases of patients who suffered after their insurance refused to pay for continued care. Recently I read the case of one patient who died after being refused further treatment but whose persistent borreliosis was confirmed posthumously during an autopsy.

Our health care system is devastatingly broken, specifically as concerns our inability to treat patients who fall in the poorly understood areas of medicine. Even more troubling is our inability to protect the intellectual integrity of the medical industry from the unwelcome meddling of interested parties who would allow patients to die untreated despite the absurd profit margins they currently enjoy. A public option on healthcare is necessary but addresses only one of many problems that we face. We also need political reform to end the revolving door between policy and lobbying and to regulate the behavior of insurance companies so that they cannot overrule physicians and deny patients potentially life-saving care.