Nerdy Science Blog

Medicine has been one of the most provocative and coveted scientific professions for many years now. With primetime television shows about badass doctors breaking all the rules and falling in love with one another crowding our consciousness, the medical profession and the science behind it have become glamorized and skewed in a lot of ways. It can be easy to forget just how much science actually goes into the process of diagnosing a disease and then treating it. While this is not to say that the medical profession isn’t glamorous in its own right, we often lose sight of just how much science goes into the entire process. Disease and human illness are elusive scientific issues that have fascinated the human race and scientists for centuries now. These three diseases are some of the most baffling, intriguing, and frightening scientific conundrums in human history.

Polyglandular Addison’s Disease

This devastating disease is an extremely rare and endlessly devastating hormonal disorder. While Addison’s disease is more widely known, the polyglandular form is much rarer and more disabling. Affected patients are literally unable to produce the adrenaline our bodies use in response to stress. This adrenaline response is natural to our bodies and is known as the “fight or flight” hormone. It prepares the body for action and enables the body’s organs to respond to stress effectively without going into shock and shutting down. Polyglandular Addison’s disease patients are unable to produce adrenaline in these moments of stress and are at risk of sudden death or critical illness. This disease has no known cure, but can be managed through careful treatment with medications. Patients require daily treatment and constant attention for very everyday activities.

Trimethylaminuria (Fish Malodor Syndrome)

Trimethylaminuria (TMAU) is a metabolic disorder that prevents affected individuals from properly breaking down trimethylamine (TMA). As a result of this improper breakdown, patients give off a very strong fish smell at all times. Trimethylamine that is not broken down properly is released in the breath, sweat, urine, and other bodily secretions, giving off the overwhelming fishy odor. This disease, obviously, can be extremely detrimental to an individual’s social and psychological health. The smell cannot be masked by colognes, perfumes, or deodorants. There is currently no cure for the metabolic disorder, but patients can manage it with better education on the disease. By reducing the foods in their diet that convert to TMA, patients can reduce the excess TMA in their system that results in the odor. This is a challenging task with foods like eggs, legumes, certain meats, and fishes all containing precursor elements to TMA.

Reflex Sympathetic Dystrophy

This disorder is one of the most frightening to make the list. Reflex sympathetic dystrophy is a nerve disorder that causes searing pain in the limbs as if they are on fire. Patients spend every waking moment feeling as if their limbs are swollen, hot to the touch, and on fire, causing you to sweat excessively. RSD involves several other symptoms as well, but is poorly understood in the scientific world. It is believed that the disease is caused by an abnormal chain reaction of the sympathetic nervous system. This body system regulates blood flow and other aspects of the skin. The elusiveness of this disease makes it very difficult to understand. Some patients are relieved of all symptoms seemingly overnight and without any treatment, while other sufferers undergo extensive treatment just to reduce the pain they feel. One of the treatments used in extreme cases of RSD is putting the patient into a Ketamine coma and attempting to “reset” the pain connections of the body.

Amelia Wood is a blogger and freelance writer who often writes to explain medical billing and coding online. She welcomes your questions and comments at amelia1612@gmail.com.

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