Hunter Syndrome is a rare genetic disorder passed from mother to son. It can cause distinct facial features, an enlarged abdomen, limited range of motion, developmental delays and nervous system problems. YNN's Katie Gibas reports.
"It's like all that extra stuff that you put in your house that you accumulate in your basement or garage. So these molecules are stored in places where they shouldn't be stored because normally, they're broken down. It's not painful. It's just that they can do things as easily as other kids their age," explained Dr. Joan Pellegrino, a Geneticist at Upstate University Hospital.
Kari Podkowka didn't know anything about the disorder until her older son Wasyl was diagnosed at age three, after years of ear infections, pneumonia and rashes.
"All the colds. All the health problems. The certain things that just didn't seem to fit right. It just makes sense, scary, but it makes sense now. And you can educate yourself. I know now how to deal with things," said Podkowka.
Podkowka's younger son Waylon also has Hunter Syndrome. There is no cure. However, both her boys get enzyme replacement therapy every week to manage the disorder.
"It will not eliminate the disease. You'll still end up with some of the features, but it will slow the progression," said Pellegrino.
Podkowka added, "The earlier you start, the better off the children are. They won't have the enlarged liver, spleen. He won't have, hopefully, the joint tightness his older brother has."
Those who see Hunter Syndrome on a daily basis hope more awareness will bring more research dollars and better treatments. They also hope to educate the public.
"You just want people to know about it and have more options than what we have," said Podkowka.
Pellegrino added, "In Hunter Syndrome that was never treated, and children could die in their second decade of life. Now that we have treatment, most individuals live much longer, into their 30s and 40s, but they can still end up with complications."
There are clinical trials underway that would add treatment options, but those would still be in addition to the four hours of enzyme replacement therapy every week.