Officially known as mucopolysaccharidosis disease, or MPS2, the syndrome is the result of an enzyme deficiency that affects 400 boys in the U.S.
“What ends up happening is the enzyme they’re deficient in breaks down the waste that the cells build-up, which eventually leads to cell death and the death of the boy,” said Danielle Pleffner, whose 5-year-old son, Michael, has an advanced form of the disease.
As rare as Hunter syndrome is, having a cluster of cases in South Florida is unheard of.
“We were just devastated,” said Jenn Estevez, mother of 3-year-old Sebastian. “I was angry. I felt like he was getting robbed of all the potential in him.”
But in the midst of their pain, these moms found comfort from each other.
“It’s very unfortunate that we were brought together under these circumstances, but at this point, I can’t imagine my life without them,” Pleffner said.
“I feel like I have somebody who understands, who I can talk to,” added Monica Anya, mother of 4-year-old Kalel.
The three women have joined together to help raise over $2 million to fund a clinical trial that holds hope for a cure.
“The issue is, because it’s an academic study, there’s not a pharmaceutical company involved, so it’s really up to us to get the money to make it happen,” Estevez said.
Without a cure, children with Hunter syndrome will not live past their teen years.
“We knew we had to do something. We couldn’t wait for a miracle to happen. We have to make it happen,” Anya said.
The first local fundraiser is a kickball tournament at Brian Piccalo Park in Cooper City, which runs from 8:55 a.m. to 4:30 p.m. Saturday.
For more information on Hunter syndrome and the local awareness effort go to www.mpsSuperHero.org.
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https://www.local10.com/health/south-florida-families-band-together-to-battle-rare-disorder
