Thin blood

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. It also gave rise to bone marrow transplants, which were first used to treat patients with aplastic anemia.

"The research on PNH and aplastic anemia has been incredibly fertile in terms of the conclusions for other diseases," Maciejewski said. "This is something that's important to study."

A new treatment

One breakthrough has already come for patients with PNH. In March, the FDA approved a new drug called Soliris, or eculizumab, a first-of-its-kind drug and the only medication approved for PNH. Soliris does not cure PNH, but it blocks the destruction of red blood cells.

Rumaner said the drug has helped him, but not quite enough. His aplastic anemia means he still cannot generate enough new blood cells to replace those that naturally die.

"Even though we're slowing down the destruction, his bone marrow is not producing a lot of blood," said Dr. Ho Myong, Rumaner's hematologist at Rush-Copley. "The blood has a certain life span, about three or four months. If you don't replace that blood, you're going to be persistently anemic."

So Rumaner still needs regular transfusions, as well as treatments to remove excess iron that can build up as a result of the transfusions. He's also tried growth factor injections, but they failed to stimulate cell growth.

The hardest part of the disease is the unrelenting fatigue. Rumaner no longer walks his two dogs, a Malamute named Tundra and a Samoyed named Igloo.

"I can go for walks a day or two after a transfusion, and then my energy wanes," he said. "I used to walk a mile around the neighborhood. Now I can just do around the block."

His hematologist has started urging Rumaner to consider a bone marrow transplant.

"We're looking at it as an option," Rumaner said. "I'm not ready yet, but I can't keep having so many blood transfusions. It's taxing on your body, and it just wears on you."

Rumaner is closely watching a woman in Rockford who received a bone marrow transplant to treat her PNH; so far, she seems to be doing well. But he's discouraged by other stories. A former soldier died after his transplant; so did a member of Rumaner's support group.

Meanwhile, he's investigating transplant centers, including Fred Hutchinson Cancer Research Center in Seattle, which has the largest program.

Rumaner is used to traveling for health care. Since he was diagnosed in 2006, he's already traveled multiple times to Cleveland and New York to see specialists, including Maciejewski. Even though he has good health insurance, he and his wife racked up $10,000 in bills for travel expenses and doctor co-pays.

Friends stepped in to help Rumaner, and now he wants to do the same for other people with PNH. The second annual benefit for the Marc Rumaner Foundation Nov. 2 will raise money for grants to other patients who have travel or other expenses. Rumaner and the foundation's board of directors will also direct funds to researchers looking for a cure.

"We call it the 'One in a Million Benefit' because the disease affects about one in 1.3 million people," Rumaner said. "If I have to have this disease, hopefully I can turn it into something good. I'd rather do that than be negative."

How to help

The 2nd annual "One in a Million Benefit" for the Marc Rumaner Foundation will be at 6:30 p.m. Nov. 2 at Walter Payton's Roundhouse, 205 N. Broadway St., Aurora.

Event includes live band, drinks, heavy hors d'oeuvres, auction and raffle. Suggested donation is $50 per person. Call Jaimee Egidi at (312) 933-0816 for tickets. For more info, visit www.themrf.org.