Facebook Twitter

Lack of funding foils Hunter syndrome research

Boy’s mother is frustrated with the priorities

SHARE Lack of funding foils Hunter syndrome research

PROVO — Julie Reneer fumes when she hears that a billion dollars is being spent to find out if there's water on Mars.

As the mother of a young boy who is dying of MPS-II, or Hunter syndrome, she's frustrated with the priorities.

"It used to be when you got leukemia, that was a death sentence. Now there's a 75 percent cure rate because the research's been really well funded," said Reneer. "With MPS, there's no money going toward it."

Randall and Julie Reneer have been baptized by fire since their son, Brigham, who's now 6, was diagnosed with both conditions at 3.

Though he's battling back the leukemia, his life expectancy because of the MPS is between 10 and 12, and little more can be done than to make him happy and comfortable.

"There's some experimental enzyme replacement therapy that's being looked at, but it can only help with the body's needs and not with the brain. What good is it to save the body if the brains goes?" Reneer said.

"It's been interesting to learn. I've really been made aware that there are so many rare diseases out there that need help, so many places to give."

Hunter syndrome is one of a variety of mucopolysaccharide disorders that is sex-linked to boys.

In patients with MPS, mucopolysaccharides, which are long chains of the sugar molecule used in building connective tissues, are stored instead of broken up and dissipated as the body regenerates because the patient lacks a critical enzyme.

Babies typically show little sign of the disorder, but as more cells are damaged and stored, symptoms appear and gradually rob the body of flexibility and life.

Genetic counselor Laurel Berkheim, associated with Primary Children's Medical Center, said parents of an MPS child will notice a regression in skills, changes in facial features and usually a larger head size.

They have an enlarged liver and spleen and often have chronic ear infections.

In the United States, the condition is rare, affecting only one in 150,000 males and one in 100,000 females who become carriers. It's estimated that one in every 25,000 births will result in some form of MPS.

In Utah, Berkheim says there are a dozen families with an MPS disorder child. Some have more mild forms of Hunter syndrome, and others have other types of MPS such as Hurler, Hurler-Scheie and Scheie.

Depending on the severity and the type of syndrome, children with MPS can expect to live to adulthood while others, like Brigham Reneer, have a much shorter life expectancy.

The National MPS Society reports no cure for the disorder and no significant breakthroughs in treatment therapy.

"There's really nothing right now that really helps," Berkheim said, "just loving their children and keeping their lives as happy as possible."

E-MAIL: haddoc@desnews.com