Thin Blood with Two Rare Diseases, an Aurora Man Considers a Bone Marrow Transplant That Carries Hope for a Cure, but at Great Risk

By Stevens, Susan | Daily Herald (Arlington Heights, IL), October 22, 2007 | Go to article overview

Thin Blood with Two Rare Diseases, an Aurora Man Considers a Bone Marrow Transplant That Carries Hope for a Cure, but at Great Risk


Stevens, Susan, Daily Herald (Arlington Heights, IL)


Byline: Susan Stevens Daily Herald Health Writer

sstevens@@dailyherald.com

When Marc Rumaner showed up at the urgent care clinic complaining of fatigue and pain from the flu, doctors told him his blood count was half what it should be.

And it wasn't from the flu.

Weeks of tests revealed Rumaner, a 46-year-old from Aurora, suffered from paroxysmal nocturnal hemoglobinuria, or PNH, a rare bone marrow disease that causes the premature breakdown of red blood cells. It afflicts only about 4,000 people in North America.

Rumaner also has aplastic anemia, which limits the production of new blood cells.

The result of the two diseases is Rumaner never has enough red blood cells to carry adequate oxygen to his muscles. Too exhausted to work more than a couple of hours without a nap, he eventually quit his job as a graphic designer and went on disability. Twice a month, he spends a day at Rush-Copley Medical Center in Aurora while bags of hemoglobin and platelets drain into his veins.

Ironically, the transfusions that keep him alive might be hindering his ultimate hope of a cure: a bone marrow transplant.

Bone marrow transplants often carry a high risk, but in Rumaner's case it could be even more risky. Every time he has a transfusion, he introduces new antibodies into his body; that heightens the chance a donor's bone marrow will trigger a fatal reaction in Rumaner.

Neither of Rumaner's brothers is a match, so he'd have to use an unrelated donor.

"Without a sibling match, and with the number of transfusions I've had, my risk of dying is 50 percent," Rumaner said.

"There are very few options for me, except for a transplant," Rumaner said. "It's a very scary thing."

Uncertain origins

PNH typically hits people in their 30s or 40s, like Rumaner. The disease is not hereditary; rather, people acquire a genetic mutation in stem cells in their bone marrow. These stem cells produce red blood cells with a defective protective layer, which leaves them vulnerable to destruction.

The destructive process is painful. It often happens at night, and it causes the urine to become red or dark in color.

Stem cells also produce platelets and white blood cells, and those can also be defective in people with PNH, said Dr. Jaroslaw Maciejewski, a hematologist and researcher at the Cleveland Clinic in Ohio. Some people with PNH develop acute leukemia.

Deadly blood clots can form in abdominal organs in people with PNH. Defective white blood cells leave them more vulnerable to infection.

Many patients with PNH also have aplastic anemia, so scientists believe the two diseases are connected, Maciejewski said.

Maciejewski is one of the few specialists who focus on the disease. Maciejewski is researching potential chemical and environmental triggers that may interact with genes to give rise to the disease. He's also investigating how PNH stem cells behave and how blood clots form in these patients.

Like other rare diseases, PNH doesn't attract many large research grants. But such research could eventually help people like Rumaner, as well as people suffering from similar diseases.

In the past century, the study of aplastic anemia is what led doctors to discover that blood is produced by the bone marrow. …

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