DATE: Monday, August 4, 1997                TAG: 9708040083

SECTION: LOCAL                   PAGE: B1   EDITION: FINAL 

SOURCE: BY STEPHEN KIEHL, STAFF WRITER 

DATELINE: PORTSMOUTH                        LENGTH:  121 lines

MARROW TRANSPLANT MIGHT CURE RARE DISORDER PORTSMOUTH MAN FIGHTS ILLNESS THAT MAY HAVE KILLED A BROTHER 13 YEARS AGO.

By all accounts, Spencer Evans should not have seen his 26th birthday.

He should not have fathered a child.

He should not have been able to lead a normal life well into adulthood.

But he did all of these things.

Now, as he waits for a bone marrow transplant, Evans worries that he finally may follow the path of his brother Patrick, who died more than a decade ago at age 17 of acute leukemia.

Doctors say Patrick's cancer likely was caused by an extremely rare genetic disorder called Fanconi anemia. This spring, Spencer was diagnosed with the same disorder.

He doesn't have leukemia yet, but as he bounces from one hospital to another, time is running out.

Fanconi anemia is so unusual that statistics on it are hard to find. Spencer's doctor, Daniel Atienza, with Mid-Atlantic Hematology and Oncology in Chesapeake, said a textbook he consulted reported only 300 families in the world with Fanconi. The International Fanconi Anemia Registry in New York maintains case data on about 3,000 patients.

Spencer's case is rarer still:

When he was diagnosed on April 29 - his birthday - he was 26. The disorder usually is diagnosed in children, many of whom don't live through their teens.

Spencer has a 23-month-old son, and he said his own research has turned up only three other Fanconi patients in the world who have children.

He's almost 6 feet tall while most Fanconi patients are short.

And Spencer hadn't been really sick a day in his life - until May 1996.

That was when he would get sick to his stomach and stay like that for days. He didn't know it at the time, but his immune system had failed. Blood tests later showed that Spencer's counts for white blood cells, hemoglobin and platelets were all well below normal.

``What Spencer does not have is enough white cells to fight infection,'' Atienza said. ``His platelet count is 35,000. The normal count is about 150,000. So he's at risk for bleeding and infection.''

He said he spends most of his time now in bed, resting and watching too much television. When he goes outside, he's supposed to wear a mask to protect him from all the germs. He can't be around crowds. His diet is restricted; raw fruits and vegetables are off-limits.

``I can't go out and do as much as I'd like to,'' said Spencer, who worked in shipyards and auto body shops before Fanconi confined him to his bedroom. ``There are a lot of things I can't do. I can't be around animals, smoking, chemicals or car fumes.''

And because leaving his apartment is such a risk, Spencer also can't spend much time with his son, Trenton. The toddler lives with his mother and her family in Portsmouth.

``It's tough,'' said Trenton's mother, Martina Hagerman, 22. ``He's not old enough to understand it.'' She said Trenton sometimes asks where his father is, and she just tells him that he's home because he's sick.

Thirteen years ago, Patrick Evans was suddenly struck with leukemia and died less than two months after the diagnosis. He was 17.

The Evans family was stunned and left with many questions and not enough answers. But now that Spencer has been diagnosed with Fanconi, the family is starting to piece together the puzzle of Patrick's death.

Spencer's brother ``probably died from the same condition,'' Atienza said. ``Thirteen years ago, the chromosome analysis we routinely do now was not prevalent.''

He added that because Patrick Evans entered the hospital with acute leukemia, there wasn't much that could be done.

Patrick's medical records have been pulled, and researchers are trying to determine if they can definitively say he died from Fanconi anemia. If both parents are carriers of the gene for Fanconi, there is a 25 percent chance that one of their children will have the disorder. Spencer's two other brothers, Kenneth, 32, and David, 35, have been tested for Fanconi and do not have it.

The disease isn't always fatal, Atienza said. Many patients are just mildly affected, some with minor physical deformations. The most severe manifestations of the disease come when a person's bone marrow fails. In such cases, leukemia is likely to set in and the only cure is a bone marrow transplant.

That's the point Spencer has reached. He's so weak that he takes the steroid Nandrolone to boost his energy. Otherwise, he gets winded taking a short walk.

``When I would go out to walk, I would make it around the block and then be ready to sleep,'' he said. ``But after the shot, I walked around for about two hours and it didn't bother me. It's just to hold me over, to give me a little bit of energy until I can get a bone marrow transplant.''

But transplants are difficult to come by. Spencer's family has been working since May to help him get one.

At the beginning, it looked promising. Kenneth and David Evans were tested to see if their blood matched for a transplant. Both were found to be perfect matches - they each scored a six out of six on a blood test.

Doctors at the National Institutes of Health in Bethesda, Md., were prepared to perform Spencer's bone marrow transplant at no charge. So Spencer and his family went to NIH in late May. But further blood tests on Spencer's brothers found that they were not perfect matches after all. This time, they scored five out of six on the test.

NIH did not have a protocol to perform a transplant with a less than perfect donor match, so Spencer was sent home. NIH is writing a protocol to do such a transplant and should be able to accommodate Spencer in two or three months, Atienza said.

Other hospitals can perform the transplant, but the cost is prohibitive. A hospital in Richmond wanted $120,000 for the operation. Spencer was recently approved for Medicaid, but it won't cover his bone marrow transplant, he said.

So Spencer's family is working to raise money to pay for a transplant. They've placed jars at Portsmouth businesses with signs describing Spencer's condition. They've sold doughnuts door to door.

On July 2, a Cradock McDonald's donated 20 percent of its total sales from one cash register between 5 and 8 p.m. to the foundation Spencer's family has created, the Portsmouth Bone Marrow Transplant Fund. That raised $80.

Spencer's family also planned a daylong picnic and fund-raiser at Cradock Square on July 19. After expenses, the family raised $300. And they organized an all-day car wash at Western Auto Parts in Portsmouth on July 26.

``Our nerves are racked,'' said Linda Evans, the wife of Spencer's brother David. ``There's so much to do, and you don't know where to start or where to end.''

Said David Evans: ``I've never done anything like this before, but I'm doing it. I'm doing the best I can.'' ILLUSTRATION: [Color Photo]

MARK MITCHELL

Spencer Evans' two brothers were approved to donate bone marrow, but

a second check showed they were less than perfect matches. KEYWORDS: RARE DISEASE

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