Bob Schwartz suffers from insomnia, large shifts of body fluids when he stands or lies down, high blood pressure, digestive disorders, hormonal imbalances, muscle wasting on one side of his body, and exhaustion—and the nearly 100 doctors he's seen have no idea why, Sandra Boodman reports for the Washington Post.
Signs a problem
Schwartz, a retired medical malpractice lawyer, said his problems began about three years ago, when he was in his mid-50s. Up until 2016, he described himself as "the epitome of health." He never smoked or drank alcohol, had been a vegetarian since high school, ran 10 miles a day, and played basketball.
But he soon began to feel tired, and during his outdoor runs, he felt an unusual sensitivity to cold in his hands and feet.
Then, in 2017, Schwartz developed a urinary problem, Boodman reports. He urinated very little during the day, no matter how much liquid he consumed, but when he would lay down at night, he'd urinate a lot, producing about 51 ounces of urine. Urologists were unable to explain what was causing his symptoms, Boodman reports.
In September 2017, Schwartz ended up in Beaumont Hospital with an extremely high blood pressure of 180/100, no energy, and extremities that felt heavy and swollen. Doctors determined that Schwartz had hyponatremia, also known as water intoxication, Boodman reports. His blood sodium concentration was "dangerously low," Boodman writes, which put him at risk for potentially fatal complications, including brain swelling.
Doctors couldn't determine a cause for the hyponatremia, and transferred Schwartz to the University of Michigan, where doctors were able to control his hyponatremia, which they determined was caused by an inexplicable increase in blood plasma volume.
Doctors at Michigan referred Schwartz to the Mayo Clinic where "his condition continued to amaze and perplex" doctors, according to an interventional radiologist at Michigan. One specialist at Mayo said Schwartz was "a zebra among zebras," referring to medical slang for a very rare case.
At Mayo, a scan showed that Schwartz's iliac veins were significantly enlarged, as were his vena cava and his aorta.
Meanwhile, other tests showed that, despite his hyponatremia, Schwartz appeared to be dehydrated during the day while he was upright, but when he lay down at night, fluid went rushing back to his kidneys, which explained his nighttime urination, Boodman reports.
Doctors at Mayo ruled out a number of diagnoses and asked Schwartz to return in a year. When he did, the doctors had no new ideas.
A loss for answers
For much of 2018, Schwartz consulted experts around the country, and so far has seen nearly 100 doctors, Boodman reports.
Along the way, an interventional radiologist at Michigan referred Schwartz to the Undiagnosed Diseases Program at NIH. He was accepted into the program, and in October 2018, he and his wife spent a week at NIH. Schwartz underwent a number of tests, including a highly specialized PET scan available only at NIH, Boodman reports.
Still, doctors had no answers. According to Donna Novacic, the attending internist at NIH's Clinical Center, the case closest to Schwartz's is one of a marathon runner who suffered from recurrent blood clots and very enlarged veins. The patient was seen at NIH years ago but doesn't have a diagnosis yet, Novacic said.
The leading hypothesis for Schwartz's case is that his enlarged and stretchy veins are due to a problem with the collagen in his connective tissue, Boodman reports. The theory is that his collagen isn't strong enough to support the walls of his veins. He also shows signs of having dysautonomia, which refers to a disorder of autonomic nervous system function.
It's possible that Schwartz's condition is genetic, Boodman reports. "Generally when we think of genetic disease, you think of a child born with it," Novacic said. "But there are many situations where you have a predisposition to a certain problem and it doesn’t manifest for years."
According to Novacic, Schwartz's DNA is being sequenced at Baylor College of Medicine for potential clues, but results are still pending.
To help control his swelling, NIH doctors have recommended Schwartz wear specialized compression garments. "Without strong [blood] vessel walls, the only thing you can do is compress from the outside," Novacic said. However, doctors did not have any recommendations to help his urination problems.
For his part, Schwartz said he tries to focus on other things in his life, including a foundation that he runs with his wife, as well as his three adult children.
"Anyone can give up, it's the easiest thing in the world to do," Schwartz said. "But to hold it together when everyone would understand if you fell apart, that's true strength" (Boodman, Washington Post, 9/21; Cleveland Clinic fact page, 9/24).