- Associated Press - Saturday, February 27, 2016

SOUTH CHARLESTON, W.Va. (AP) - It was the delayed speech that Dave and Elise Esposito noticed first. Their daughter, Keira, was talking at 3 years old, but not as much as other kids her age. Doctors attributed the problem to hearing issues related to her frequent ear infections and told the couple their child’s speech would likely improve with tubes in her ears. It didn’t.

Then, at age 4, Keira became more and more hyperactive. By 5, she developed sleep problems.

These seemingly unrelated symptoms led the Espositos to a geneticist who diagnosed their first-born daughter with Sanfilippo, a rare progressive disease that is likely to kill her before she’s 15.

Children with the disease, a mucopolysaccharidoses or MPS disorder, lack the enzyme to properly break-down long chains of sugar molecules. Toxic waste builds up in their cells, leading to long-term damage.

Before she was diagnosed, doctors had described to the family other types of MPS disorders that they would test for. Elise Esposito said she at first thought the genetic testing was just to rule out MPS disorders so they could move on to more testing.

Then she came across information about Sanfilippo-type A, the most severe type of the disorder. The symptoms matched every issue Keira had, she said. Even the pictures of the children with the disease looked like Keira.

“For me, that was diagnosis day,” Elise Esposito said. “I was sick to my stomach and just started sobbing. So the day we got the phone call for me was just confirming what I already knew.”

The disease is genetic and has no cure. Both Dave and Elise Esposito are recessive carriers of the gene. They were told any of their future children would have a one in four chance of getting the disease.

Keira, now 6, was diagnosed in September 2015, just three weeks before her younger sister, Keaton, was due to be born.

“That was a pretty paralyzing wait, to see if our second child had the same death sentence as our first-born did,” Elise Esposito said. Keaton, now 4 months, was not diagnosed with the gene, though the couple says they still have nightmares the doctors or the test was wrong.

Keira was slow to cognitively develop. It took her parents almost two years to potty-train her. And she peaked cognitively last year. She was attending Mountaineer Montessori School and doing well, her parents said. She has since regressed to a 18- to 24-month-old level, Dave Esposito said. She’s attending school in a special-needs class at Bridgeview Elementary.

“It’s almost every week now that we notice a new word or skill that she’s lost,” Elise Esposito said. “So just that regression and seeing her not be able to do things that she used to and that really rapid decline. It’s just very, very heartbreaking,”

For now, the disease is making Keira hyperactive. On a recent evening, she didn’t sit still for long before she was up again, playing with the dog, running around the house. She grabs at whatever thing is closest. She likes to sing and read books.

Keira can’t be left alone for any length of time. The energy is part of the disease.

“She’s 6 years old, but she’s not like other 6-year-olds where they can play independently for a little while,” Elise Esposito said. “Even if she’s in the room with us, one of us still has to be focused on her.”

In addition to being hyperactive, she’s also started putting small objects into her mouth like a small child would. The couple takes turns caring for their 4-month-old and their 6-year-old. They’ve baby-proofed their house again for Keira.

By age 7 or 8, the disease will likely put Keira in a wheelchair. She’ll eventually lose her ability to talk or swallow. Her organs will shut down and she’ll be in constant pain.

“As hard as (the current stage of the illness is), you don’t want her to go to the next phase,” Dave Esposito said. “A lot of people have told us after 7 or 8, things really slow down because she can’t move.

“You find yourself thinking at least that will be easy and (then you think) what’s the matter with me?”

For now, Elise and Dave Esposito say they choose to be hopeful.

“The science is close,” Dave Esposito said. “They know exactly what enzyme’s missing. They know exactly what gene it’s on.”

They’re hoping to get Keira into a clinical trial that might be an effective treatment. It might not be too late for her.

At the same time, the Espositos are preparing for what is likely to come next.

“We talk about even logistical things like when she’s in a wheelchair,” Elise Esposito said. “We’re in a house with tons of stairs, you know. So we hope but we’re already kind of preparing, thinking ahead to logistical things.”

The family has connected virtually with families of other children with Sanfilippo syndrome. Affected families are those who have been leading the charge for research. The family is also trying to raise awareness of the illness so that parents of children with symptoms like Keira’s get tested.

The couple is hopeful that Keira’s otherwise good health and previous cognitive skills will make her a good candidate for a clinical trial that may help her.

“We’re taking action and we’re keeping hope because we know that it’s possible, not because we don’t have any other options,” Dave Esposito said. They have so far raised more than $30,000 for research.

The Espositos are planning a fundraiser for the Curing Sanfilippo Foundation, a nonprofit group that advocates and funds research for the syndrome. The event is scheduled for March 5 at the University of Charleston ballroom. They’re still looking for donations for a silent auction at the event.

For more information about Keira and the event, see the family’s Facebook page or their website, www.curingk.com. There’s also a golf tournament fundraiser scheduled for this fall.


Information from: The Charleston Gazette-Mail, https://wvgazettemail.com.

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