Four-year-old Jayden, in his Chicago White Sox T-shirt, lights up at the sight of “Bob the Builder” on TV and enjoys pushing his large “Bob the Builder” truck around his parents’ living room.
Brooklyn, 1, with her lush, blond curls, clings to her dad as he prepares her dinner.
What isn’t likely apparent is Brooklyn and Jayden suffer from a rare genetic disorder called Sanfilippo syndrome.
Their parents, Stefanie and Justin of Beach Park, face the possibility their young children may not live past their teen years. Stefanie and Justin cling tightly to their faith and spend time raising money for Sanfilippo research.
“You make a choice every day. You can either live in a world where you’re counting down the days until your kids are going to die, or you can live in a world where you enjoy every moment,” Stefanie said.
Doctors diagnosed Jayden with Sanfilippo when he was just 3 years old. When Jayden was born, he had a larger-than-normal head and an enlarged liver, Stefanie said, but doctors weren’t concerned.
Then, Jayden started lagging behind his friends in speech, Stefanie said.
“We just wrote it off and waited,” she said. “But in the back of my mind, I knew something was off.”
When Jayden was 3 years old, doctors suspected his speech issues, enlarged liver and larger-than-normal head may be related. A specialist suggested he may have Sanfilippo, a diagnosis confirmed through urine and blood tests. Just one in 70,000 children suffers from Sanfilippo.
Both Jayden and Brooklyn were diagnosed with the syndrome in October 2009.
People with Sanfilippo, Stefanie said, lack an enzyme that breaks down a sugar called heparin sulfate stored primarily in the central nervous system. The sugar starts to build up and causes damage to the brain.
Stefanie said that from infancy to around age 2, children with Sanfilippo are pretty normal. During the second stage of the disorder, from ages 4 to 10, these children become hyperactive and restless and often have problems sleeping, Stefanie said. After age 10, they often lose their ability to walk and eat, requiring the use of feeding tubes.
“A lot of them are severely mentally handicapped and are never potty trained,” said Stefanie. Jayden, she said, still wears diapers.
“We’re at the cusp of people starting to notice he’s a little different,” she said.
Being at the start of the second stage of Sanfilippo, Stefanie said, Jayden is somewhat destructive and doesn’t sleep well at night.
“We have good days and bad days,” Justin said.
While Jayden is starting to display some behavioral issues, Stefanie said, her son “has this very gentle spirit about him.” At preschool, he saw a classmate crying and tried to console the student, patting him on the head.
“That’s his spirit,” Stefanie said. “We just feel so blessed. They don’t judge people. They don’t wake up and worry about tomorrow. The beautiful thing about Sanfilippo is they don’t know they are any different.”
Having children who suffer from a rare genetic disorder can be tough, Stefanie acknowledged.
“More, it’s the emotional thing,” she said. “Most parents don’t put their kids to bed and think, ‘I hope they wake up in the morning.’”
What Stefanie and Justin have done, however, is make a conscious decision to “thrive, not just survive.” Ultimately, they say, God is in control.
Stefanie said she and her family attend Immanuel Church in Gurnee. “The only thing that keeps us grounded is our faith.”
At present, there is no cure or treatment for Sanfilippo, Stefanie said, which is what makes fundraising for research so important. The Boyce family has been working with various organizations to raise money for research, including with Team Sanfilippo. The organization is made up of other families whose children suffer from Sanfilippo.
Stefanie and Justin raised $6,000 through a garage sale and donated it to Team Sanfilippo.
“The reality is it very well could be life or death for our kids,” she said. “When it’s rare, nobody’s investing. It’s up to the parents to raise money and awareness.”
Thank you! Article By Korrina Grom and Photos by Steve Lundy http://www.dailyherald.com/article/20110222/news/702229974/photos/EP2/#navAnchor