Robert Wilk, 9, knows the drill by now.
Once a week, he checks into Children's Memorial Hospital and spends a few hours in bed, hooked up to an intravenous line that feeds a light yellow liquid into his bloodstream.
The sack of fluid is giving him what his body cannot: a crucial enzyme. The enzyme's job is to break down a chemical that, if levels build up too high, can unleash an array of symptoms, from an oversized head, stiff joints and deafness to mental retardation, organ problems and death.
Hunter syndrome patients like Robert are born lacking this enzyme. Until recently, they also lacked a treatment.
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That changed last summer when an enzyme replacement therapy called Elaprase hit the market. It's still too soon to know how Shire Human Genetic Therapies' pricey new medicine will fare in the long run, but patients and parents say they're already seeing changes for the better.
"It's like a little pot of gold hanging over there," said Robert's mother, Beata Wilk, as she points to the medicine streaming through her son's IV. The fourth-grader has more energy now. He has less joint pain and can move better. His face isn't as puffy; his skin and hair, softer.
The long-awaited treatment also comes as a welcome development for doctors, who previously had little to offer patients with the debilitating disorder.
"I've been doing this for 30 years," said Children's Memorial pediatrician and geneticist Barbara Burton. "There was nothing we could do . . . just symptomatic treatment. It's wonderful to be able to offer them something."
An estimated 500 people in the United States have Hunter syndrome, and they're almost all male. Mothers can be unwitting carriers and pass it down to their sons, or it can stem from a spontaneous mutation on the X chromosome. It's one of the so-called lysosomal storage disorders, a group of more than 40 diseases caused by an inherited deficiency of a particular enzyme.
Burton believes sooner is better when it comes to starting Hunter patients on Elaprase. But that's not always easy with a disease whose wide-ranging symptoms can make it difficult to diagnose. Patients often get bounced from doctor to doctor until someone finally puts the pieces together.
That's why Burton is pushing for a new state law -- currently making its way through the Illinois General Assembly -- that would expand newborn screening tests to include several lysosomal storage disorders. The specific test for Hunter syndrome would be added to the expanded screening panel once it's perfected.
"We're on the verge of being the first of any of the 50 states to test newborns for so many of these types of disorders," Burton said. "With [Hunter syndrome], problems like joint stiffness and short stature are difficult or impossible to reverse, so it's extraordinarily important that we make the diagnosis early and get treatment started as soon as possible."
Early treatment wasn't an option for Dan Rudny, 40. After living for decades without a medication for his illness, the West Dundee man wasted no time when Elaprase became an option. He started weekly infusions last August, making him the fifth person in the country to get the enzyme replacement therapy.
"I didn't think I'd ever see the day," Rudny said. His liver and spleen are less swollen these days. His knee pain is improving and he has more energy. "Without it, I'd probably be in bed most of the time."
While promising, Elaprase isn't a magic bullet. A few patients have had serious reactions to the medication. And researchers still are looking for ways to deliver the medicine into the central nervous system to treat the cognitive problems and speech dysfunction that can go along with the disorder.
Elaprase is also extremely expensive, costing upward of $350,000 a year for some patients. Wilk's insurance picks up the tab for her son's therapy.
"We're just so grateful there's finally something we can try," Wilk said. "We used to have nothing. At least now, there's hope."
NEWBORN SCREENING:
A bill making its way through the Illinois General Assembly would
expand newborn screening to test for genetic disorders similar to Hunter syndrome. Once the Hunter
syndrome test is perfected, it too would be added to the broader screening panel that will start next year if the bill becomes law.
The expanded newborn screening would add testing for the following diseases:
- Krabbe
- Pompe
- Gaucher
- Fabry
- Niemann-Pick
ACTS OF KINDNESS
COORDINATOR'S JOB GETS PUT TO THE TEST
No woman wants to hear that her mammogram came back abnormal and she'll need more tests.
This is the point when some women -- especially low-income minorities, research has shown -- choose not to show up for further testing. These patients simply fall through the cracks.
Diana Salgado's job is to make sure that doesn't happen.
Salgado last year became a breast health coordinator at Mount Sinai Hospital on Chicago's West Side.
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