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From York to North Carolina: A drive to survive deadly Hunter syndrome

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3.5 from 2 votes
Friday, October 20, 2017

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Every three weeks, Trish Kisielnicki loads up the car for the seven-hour ride to North Carolina.

She straps her 7-year-old son into an oversized car seat in the back. Her mother-in-law rides shotgun for care and support.

They make this journey from their home in Hopewell Township, a mile or so from the Mason-Dixon Line. They do it to try and save Sean. He was diagnosed with Hunter syndrome, a rare enzyme deficiency disorder, four years ago. There is no cure.

Sean and probably fewer than 400 others in the United States — and possibly only 2,000 worldwide — have the most severe form of the disease. Most are young males who are not expected to live to 20.

A potential saving grace is an experimental drug trial ongoing at the University of North Carolina in Chapel Hill. It's run by Dr. Joseph Muenzer, one of world's leading experts on Hunter syndrome, also known as mucopolysaccharidosis II (MPS II). It is one of a group of six metabolic genetic disorders.

More: National pageant crowns York County toddler battling rare disease

Those with MPS II lack an enzyme that breaks down sugar chains used to build bone and connective tissue. When those chains build up in the body, they eventually cause organ shutdown and death.

Enzyme replacement therapy at home through a port in Sean's chest helps his body fight the disorder — from the neck down.

But the only way for him to receive treatment to fight the effects on his brain is to receive the drug Elaprase through a port near his spine. The procedure delivers the genetically engineered enzyme into the fluid around his brain.

Sean was one of the few accepted into such a clinical trial at UNC.

The hope is that this leads to gene therapy to help the body continuously produce the missing enzyme on its own.

For now, the monthly three-day trip to North Carolina for infusions is hopeful prayer.

The immediate goal is to prevent further damage to Sean's body and mind. Besides a cure, the only way to fight deadly MPS disorders is to mandate newborn screening. That technology has become possible in the past few years and is a growing conversation in several states, Muenzer said.

Missouri passed a bill requiring the screening last summer.

"They do see him doing better. They see hope," Muenzer said in a phone interview in late summer. "Before, they had no hope. Before, patients like Sean would typically die in their mid-teens.

"We're not going to make his brain normal but, hopefully, prevent additional insult to the brain."

It's been a long ordeal for the Kisielnickis. He was diagnosed with Hunter syndrome on his third birthday and began an observational study at UNC a couple of months later. As he officially started the trial the following summer, he was forced to spend a month in North Carolina to treat complications from installing the port in his back.

In all, he's undergone at least 10 surgeries because of Hunter syndrome and its complications.

The Kisielnickis are convinced the Elaprase trial at UNC has significantly improved his cognitive abilities.

Without the drug "he'd be regressing," his mother said. "His hands would be crippling, he wouldn't be talking to us as much, if at all. He would be tripping. He couldn't do steps."

They say it's given him the ability to learn to skate and ride a scooter and a bike.

In the coming months, the drug trial data will be examined — comparing the results of those with MPS II receiving this treatment against those who are not, Muenzer said.

If the trial is judged successful, Elaprase treatments and infusions could become more affordable and easier to access for those like the Kisielnickis.

Meanwhile, they are being helped by the SLK Foundation, a fundraising drive in honor of Sean and other families with special needs children.

Author: Frank Bodani
Source: York Daily Record
3.5
3.5 from 2 votes
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