‘We get another day:’ Family raises awareness with Rock Hill event

Every day, Leslie Jurado checks to make sure her daughter is still alive.

“Her heart rate gets very low while she sleeps. She looks really pale,” she said. “Every morning, I go in her room and pray, and when she takes a breath, I think ‘OK, we get another day.’”

Isabel “Izzy” Jurado, 13, suffers from a rare genetic disorder called MPS-III, or Sanfilippo syndrome. Once an active little girl, Izzy for the past two years has been confined to a wheelchair, unable to speak or feed herself.

At 2 p.m. Saturday, Izzy and her family, along with other MPS sufferers and their supporters, will host a balloon release from the playground of Manchester Park, in honor of International MPS Awareness Day.

In doing so, the Jurados hope to bring more attention to a little-understood condition that affects one in 25,000 children, and hopefully be able to help others through a foundation that bears their daughter’s name.

The Isabel Jurado Foundation helps families with MPS-affected children install wheelchair ramps or make other handicapped-accessible improvements to their homes. For younger children – who before the disease incapacitates them can become hyperactive, lose “safety awareness” and develop a tendency to wander – the foundation will even help install fencing to keep kids secure.

“And this is the staff right here,” said Izzy’s dad, Jimmy Jurado, indicating himself and his wife. “Our friends volunteer. None of the money goes to us.”

The Jurados see the foundation as a way for Izzy to leave a legacy for other families who, like them, will learn about the full effects of this disorder in just a few short years. She even appeared in an online video with a Columbia family facing an MPS diagnosis for their daughter Eliza.

“In turn, a child can go from normal to acting like they have severe ADD, to autistic, to almost like they have cerebral palsy,” Leslie Jurado said.

Izzy was a healthy child, until she was 2 and her parents noticed her development seemed to go into reverse, as she started to “forget” things.

“We would say, ‘What does the cow say? Moo,’” Jimmy Jurado said. “Then a month later, she wouldn’t remember what the cow said.”

A pediatric occupational therapist, Leslie Jurado knew something was wrong with her daughter, but wasn’t sure what. Doctors couldn’t tell her. Finally, her mother read an article about Sanfilippo syndrome and thought it matched Izzy’s symptoms. So she and her husband had genetic testing done, and discovered they were both carriers of a recessive gene that can cause symptoms in their children.

Izzy was born lacking an enzyme needed for her nervous system to break down cellular material, slowly degrading her ability to function mentally and physically, and that will eventually lead her body to shut down.

With this information at hand, Izzy’s forgetfulness at such as young age made sense.

“She was beginning to experience dementia as a toddler,” Leslie Jurado said. “It’s like Alzheimer’s. It slowly robs you of everything.”

The diagnosis has led to struggles for the family. By choice, only one of the Jurados’ three younger children is their biological child, since any other children they have would be at risk of developing the disease. The family has depended on supplemental Medicaid coverage to help with the treatments and medications Izzy needs, including cannabidiol, a “medical marijuana” extract that reduces her seizures.

It’s also made Leslie Jurado, whose “heart” for special-needs children led her into pediatrics in the first place, more appreciative and observant of the world around her.

“I saw a boy at the Springs Greenway (in Fort Mill), and I thought, ‘I bet my life he has Hunter’s syndrome,’” a related MPS disorder, she said. “I asked his mom if he had Hunter’s and she said, ‘What’s that?’”

Genetic testing later confirmed Jurado’s diagnosis, and the two moms have stayed in touch since.

When Izzy turns 14 later this month, she will have met the life expectancy for a child living with Sanfilippo syndrome, but the Jurados hope greater awareness will lead more parents to get their children tested early, and at least have options for treatment.

“Not everything is tragic,” Jimmy Jurado said. “She’s changed our lives. She’s made us more compassionate, and made us want to do more to help others.”

This story was originally published May 13, 2016 at 4:02 PM with the headline "‘We get another day:’ Family raises awareness with Rock Hill event."