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New treatment could help save the lives of infants

2.75
2.8 from 4 votes
Sunday, June 01, 2008

Dawn Hanley and her two-year-old daughter Mia spend a lot of time at Hasbro Children`s Hospital. Every two weeks they`re there. A far cry from what seemed like a perfect beginning. Hanley says "Absolutely perfect pregnancy, perfect labor and delivery, she came home fine and it wasn`t until the feeding issues." Mia wasn`t eating a lot and wasn`t thriving like she should. At four and a half months, her doctor detected a heart murmur. Even more disturbing, the cardiologist`s finding concerning Mia`s heart. Hanley says, "Larger than an adult`s heart."

That finding led to a battery of tests, but it took six weeks to get a diagnosis. Infantile Pompe Disease... a rare genetic disorder caused by an enzyme deficiency. It`s a diagnosis that`s usually a death sentence. Dr. Chanika Phornphutkul says, "Ninety percent of patients die within the first year old life without treatment." That treatment was experimental at the time. Enzyme replacement therapy. But, it was only being done at Duke University in North Carolina. Hanley says, "And the only hope I had was to leave my job, my husband left his job and went to North Carolina until everything was set up here." That was a year and a half ago. Hanley says, "The results have been dramatic. She`s doing very well." Dr. Phornphutkul adds, "Her heart function when she presented to us at the age about seven months was really poor, you know, her heart muscle wasn`t contracting well at all and now her most recent echo showed normal cardiac function."

This enzyme replacement therapy has since been FDA approved to treat Pompe disease. Right now, Mia is undergoing physical, occupational, and speech therapy to strengthen her muscles. She also gets an infusion for six hours, every two weeks.

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Source: News Channel KTIV
2.75
2.8 from 4 votes
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