Fighting pompe disease

FRESNO, Calif. (KFSN) -- It can kill kids before their first birthday. The infantile form of pompe disease is a death sentence if not treated, but now there's something keeping kids alive longer.

If Haley Hayes' parents could have one wish, it would be a cure for their six-year-old daughter. Haley was diagnosed with pompe disease, a fatal, genetic illness when she was six months old.

"It was awful," Krystal Hayes, Haley's mom, told Action News. "That was probably just the worst news you could ever hear."

Haley lacks an enzyme that helps break down sugar so it builds up in her heart and skeletal muscles, damaging them. She can't walk but she can get around, and she loves to talk.

"I do art and I watch TV, and I play Wii or Nintendo sometimes," Haley Hayes said.

When Haley was diagnosed, most babies with pompe disease died. But, a once-a-week infusion given while Haley paints has changed everything.

"We know it's basically keeping her alive at this moment," Krystal said.

Myozyme replaces the enzyme Haley lacks. Without it, most babies didn't make it to their first birthday.

"It's similar to providing insulin to someone who has diabetes, so she needs to have this enzyme given to her throughout her life course to be able to live," Priya S. Kishnani, M.D. at Duke University Medical Center, explained.

Some patients create antibodies that prevent them from responding to myozyme. Duke Doctors found three chemotherapy drugs that wiped out the harmful antibodies in infants, allowing them to respond to myozyme. These babies would have died, but the oldest is now five.

"It allows children to live," Dr. Kishnani said. "It allows them to have dreams, to be able to go to school, to ride a bicycle, to celebrate birthdays."

Haley doesn't let it slow her down. Her parents cling tight to hopes for a cure and enjoy each precious day.

"Just treasure every milestone," David Hayes, Hayley's dad, said.

While Haley takes myozyme once a week, most patients take it once every two weeks.

Myozyme is not a cure. Since it's so new, doctors don't yet know how long kids treated with it will live. The oldest living child taking it is 13 years old. Doctors say it's vital to start children with myozyme as soon as possible.

If you would like more information, please contact:

Priya S. Kishnani, MD, C.L.
Duke University Medical Center
(919) 681-9854
priya.kishnani@duke.edu

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