Health

Update on a Rare Genetic Disease

By CBSNews.com staff CBSNews.com staff

January 31, 2002 / 8:41 AM EST / CBS

With the New Year comes new hope for the Holland family of Fort Worth Texas.

They are packing up a few cherished possessions for a long awaited trip that may give these sick girls a shot at a future. CBSNews first introduced you to the Hollands last August. Against the odds, all three children Spencer, Maddie and Lanie have a rare and deadly genetic disorder called mucopolysaccharidosis or MPS.

Their bodies lack an enzyme that enables them to break down sugars, which then build up in and damage their joints and organs. Most kids with MPS never live to be teenagers.

At the time only Spencer qualified for use of an experimental drug which replaces the missing enzyme.

"We have seen no new symptoms since starting him on this drug three years ago," says Amy Holland.

But his sisters waited and worsened. Lanie had to have brain surgery, and Maddie's ability to walk went from wobbly to worse.

Now it's their turn. After being poked and prodded and subjected to test after frightening test, the girls have finally been accepted into a new trial at the University of North Carolina Hospitals. They themselves administered the first dose.

"To find treatment is like a rebirth of that child," says Amy Holland. "It takes away the sting of the word terminal."

The treatment is an IV drip the girls will get once a week. They may be getting a placebo but their participation in the trial guarantees them the real drug after six months. It's not a cure but the earlier trial showed great promise.

"We saw their liver dramatically get smaller," says Joseph Muenzer, MD. "Their ability to walk or move their joints improved. They felt better."

But the numbers were too small to convince the Food and Drug Administration to approve the drug: a fact that has frustrated doctors and angered parents who feel the agency should act faster in approving drugs for rare diseases.

"Time is critical," says Muenzer. "These children only get worse with time."

Amy Holland says, "It's been our goal for three years to get this drug to our two children and other children in the world who need it."

For now one part of that goal has been met. The hope is results of this new experiment will convince the FDA to approve the drug and help other children for whom time is running out.