Hunter syndrome: Wisconsin boy receiving breakthrough treatment
Hunter syndrome: Wisconsin boy receiving breakthrough treatment
A breakthrough drug that treats a rare disorder is giving families new hope, and Children's Wisconsin is playing a key role.
MILWAUKEE - A breakthrough drug that treats a rare disorder is giving families new hope, and Children's Wisconsin is playing a key role.
Local perspective:
For the last few months, 6-year-old Roran Jaskulski has spent six hours every Friday at Children’s Wisconsin.
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"It's extra time I get with him. That’s the way I look at it," his mother, Kylie Jaskulski, said.
The New Berlin boy is among the first in the country to get a breakthrough treatment. Two years ago, he was diagnosed with Hunter syndrome.
Roran Jaskulski receives treatment for Hunter syndrome at Children's Wisconsin
What is Hunter syndrome?
Big picture view:
Hunter syndrome is a rare genetic disorder that doesn't allow the body to break down certain sugars. It leads to a buildup that damages organs and impacts physical and mental development. The life expectancy is often between 10 and 20 years old.
"We were just told to take him home and love him and just enjoy the time that we had with him," his mom said.
Breakthrough treatment
Dig deeper:
But his mother wanted more. Since Roran's diagnosis, she's been working with a team at Children's Wisconsin to make sure her little boy would be able to get AVLAYAH, an enzyme replacement therapy.
"It’s a pretty revolutionary step in Hunter Syndrome management," Dr. Michael Finkel of Children’s Wisconsin said.
Children's Wisconsin
It's the first therapy engineered to cross the blood-brain barrier to treat the disease. Dr. Michael Finkel helped Children's Wisconsin become the first hospital to administer the drug after FDA approval.
"Patients that have Hunter Syndrome, we can actually hopefully prevent and reverse that neuro regressive course," Dr. Finkel said.
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What's next:
The Jaskulskis are taking things a day at a time. They are hopeful the treatment will give Roran a future.
"The goal is to just hope that it gives us more time with him," his mom said.
This is long-term treatment meant to be given for a lifetime. There are now three patients at Children's Wisconsin receiving this therapy.
Portions of this article were formatted using A.I. FOX6’s Ashley Sears and an editor reviewed it for accuracy and tone prior to publishing.
The Source: Information in this story was gathered from Kylie Jaskulski, Dr. Michael Finkel and Children’s Wisconsin.