Monday, March 29, 2004

I am not exactly sure why Duncan's dad says things about "an ugly, awful death."I guess he is trying to get people to support his bill. Sometimes you have to say extreme things to get people to act. I hope it works. More importantly, I hope Dr. Hughes is able to help them.

I tried hard to get our insurance company to pay for all of this but was unsuccessful. I had doctors write letters and put together briefing books. Nothing would convince them. If "Duncan's Bill" becomes law that would be a great thing for everyone.

Treatment Eyed for Youngster's Rare Disease

Jim Baron 03/29/2004

CUMBERLAND -- Looking at 8-year-old Duncan Nunes, you wouldn't think about someone at the cutting edge of genetic science.

The Community School second-grader, in the words of his father, Fred, "looks like a normal kid" who enjoys doing normal-kid things.

But inside Duncan's tiny body, the DNA in his cells is breaking down.

That process is by no means uncommon, but unlike the vast majority of people, Duncan's body can't repair itself. He was born with something called Fanconi anemia, an inherited condition that leads to bone marrow failure.

It means, among other things, that he is at great risk for contracting leukemia.

His body is not producing the red and white blood cells he needs, so that even roughhousing with his brother can leave him with bruises his sibling didn’t get.

The usual solution, Fred Nunes says, is a bone-marrow transplant, but that comes with its own set of problems. Because of his cell deterioration, Duncan can't withstand the rigors of such a transplant, which would involve chemotherapy and radiation treatments to effectively kill his immune system so the donor's marrow could regrow inside of him without rejection.

Neither of Duncan's siblings have marrow that is a match for his.

Trying a transplant with bone marrow that matches Duncan's, but is not from a direct relative, "has a high failure rate," Fred Nunes says. Seventy to 80 percent of patients receiving such treatment will die what he calls "an ugly, awful death, and pretty quickly." And those who survive are so prone to cancers and tumors that their quality of life -- for only the six-10 more years that most usually live -- is heartbreakingly difficult.

That is where the cutting edge of genetic science comes in.

Duncan and his parents are pursuing an option called IVF/PGD (in vitro fertilization/pre-implant genetic diagnosis).

The process starts like conventional in vitro fertilization, such as a couple with fertility problems would undergo. But then a test is done to see which fertilized egg would produce a baby that would be a match for Duncan. That egg would be implanted in Duncan's mother, Nancy, to carry to term.

Once the baby is born, material from the umbilical cord can be frozen and transplanted into Duncan.

The process is not cloning, Fred is quick to point out. The new baby would be a regular child in all aspects. "We will wait and see what God brings," he said.

After Nancy Nunes went through her pregnancy, there would not only be a new baby in the family, but perhaps a cure for Duncan -- what his father calls "a decent chance at a decent life."

One of the top doctors in this field, Dr. Mark Hughes of Wayne State University in Detroit, has already worked up the tests to determine which egg would produce a matched sibling for Duncan. While some facilities charge as much as $100,000 for this type of work, Hughes, who works with many Fanconi patients, is willing to do it for $2,500, Fred said.

Initially, Blue Cross/Blue Shield of Rhode Island balked at paying for the procedure.

"Blue Cross is a caring organization and has the best intentions at heart," Fred Nunes says. "But like any other large organization or institution, they have their own bureaucracy, and cutting through that bureaucracy can be difficult sometimes."

But after being turned down twice, he related, "we finally got through to the right people and, much to Blue Cross' credit, they made the right decision to cover a part of this."

While it will cover the in vitro fertilization procedure, the company doesn't want to pay for the pre-implant genetic diagnosis. Nunes said the family will pay for that procedure. "Blue Cross is not a villain in this," he emphasizes.

Fanconi anemia is rare, he said, affecting only about 150 people in the entire country, three of whom live in Rhode Island. Only a portion of those 150 would be able to take advantage of the treatment.

The only patients who can opt for this regimen are those with parents of child-bearing age.

Fred and Nancy Nunes contacted their state representative, Donald O. Reilly, asking him to submit legislation to mandate that health insurers in Rhode Island provide coverage for Fanconi anemia, "so no one else has to go through what we are going to," Fred says.

"It is an economic decision being made by insurance companies not to cover this," Reilly said.

"These are good, solid, American people," Reilly said. "They pay their insurance premiums. To have this denied to them is incomprehensible."

The bill was transferred this week to the House Finance Committee, away from the Corporations Committee, which usually handles health insurance bills. Reilly says he hopes the bill will get a hearing at which the Nunes’ can testify. Fred Nunes says he wants to testify "to put a face on the issue" for legislators before they vote.

©The Pawtucket Times 2004

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