After Visiting Nearly 100 Doctors, This Man Still Doesn’t Have a Diagnosis for His Rare Disease

According to a story from the Washington Post, Bob Schwartz is a walking, talking medical mystery. He lives with a strange and diverse array of difficult symptoms, and after being evaluated by almost 100 different doctors, he still doesn’t have a clue what disease he has. For Bob, the onset of his symptoms first began in 2016. Before then, he lived a pretty health lifestyle, which makes the appearance of his symptoms all the more baffling.

Never Before Seen?

Delays in diagnosis are a common problem for rare disease patients. Lack of awareness and experience means that it can take years before a patient knows what is wrong. However, Bob’s bizarre combination of symptoms has continued to confound the experts and he very well could have a condition that has never been documented before. His symptoms include insomnia (made worse by his apparent need to urinate heavily every hour and a half), severe fatigue, muscle wasting on the left half of his body, major shifts in body fluids when he changes from a standing or lying position, drastic imbalances of hormones, issues with digestion, and high blood pressure. Doctors say these symptoms include characteristics of dysautonomia and hyponatremia.

Trials and Tribulations

There is no doubt that the experience has been distressing and exhausting for Bob, who has exhausted a lot of his best options for a diagnosis, including a week-long visit at the National Institutes of Health’s Undiagnosed Diseases Program. The only real consensus that his doctors have reached is that his symptoms can be linked to his veins, which are excessively stretchy and enlarged. What makes everything even more baffling is just how healthy the man was before the issues began; he ran ten miles a day, ate a vegetarian diet for the majority of his life, and stayed away from alcohol or smoking.

A somewhat similar case to Bob’s involved a marathon runner who also had enlarged veins but suffered from blood clotting. This patient also remains undiagnosed. The prevailing theory is that the strange characteristics of Bob’s veins could indicate an abnormality of his collagen. Bob is also undergoing genetic testing to see if any interesting characteristics emerge. Hopefully, he will get some answers soon.

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