GRANTVILLE, Pa. (WHTM) — A Dauphin County family is working to raise awareness of a rare disease affecting two of their three children.
“It’s called Sanfilippo syndrome,” said Anthony Worrall, father of daughters Alexa, 11, and Lacey, 5. “I haven’t told a person yet who knew about it.”
Anthony and his wife Carolyn were told of the diagnosis 10 months ago following genetic testing, recommended after developmental delays were detected in Lacey during a pre-school evaluation. To that point, only Alexa had exhibited clear signs of speech issues and abnormal body movements, which doctors previously diagnosed as symptoms of autism.
“What was unusual about Alexa is that she was starting to lose skills,” said Dr. Thomas Challman, medical director for Geisinger Health System’s Autism and Developmental Medicines Institute. “So over the past few years, she’d actually gone backwards in some areas of her development. She’s stopped speaking, for instance. That indicated that there’s something significant going on.”
According to Challman, Sanfilippo occurs in just one of about every 70,000 births. It is a genetic condition that is caused by an abnormality in an enzyme within human cells, especially cells within the brain.
“Sanfilippo syndrome and similar conditions are progressive and an individual’s cognitive skills and motor skills will decline over time,” Challman said. “Individuals with this condition typically live (only) into young adulthood.”
“The hardest part of this experience is that there is nothing that you can do,” said Carolyn Worrall, the girls’ mother. “You’re just sitting around waiting for your child to deteriorate and eventually die.”
Genetic testing performed on Anthony and Carolyn shed light on the cause of Alexa and Lacey’s condition.
“Both Carolyn and I are recessive carriers of the gene mutation,” Anthony said, “so Carolyn and I together have a 25-percent chance of having a child born with Sanfilippo.”
The Worrall’s third child, 8-year-old son Lucas, does not have the disease.
Because of the rare nature of the Sanfilippo, there is no clear course of treatment proven to slow the effects. Alexa has attended a special applied behavioral analysis school for several years, but her loss of speech has made communication more difficult. Alexa now communicates using a tablet device, on which she can identify pictures of familiar people, foods and activities.
“We’re kind of pre-teaching Lacey that same technology so that once her speech goes, she’ll already be able to use that,” Carolyn said. “We think that Lacey has been able to maintain some of her words a bit longer than Alexa did at this stage. Moving forward, knowing what is coming, we may focus less on academics with Lacey, and more on preserving skills.”
Carolyn recalls how smoothly Alexa once ran, and how she now has difficulty walking or does so with a lack of balance and jerky movement. Alexa’s difficulty navigating a steep staircase has forced the family to begin looking for a home more compatible to their daughters’ physical challenges.
“Right now, there is no cure for Sanfillippo,” Challman said. “There is research, but there needs to be more publicity about it so people understand it more.”
To do their part, the Worralls have become part of growing Sanfilippo syndrome community. They routinely post their experiences on Facebook pages dedicated to discussion of the disease. The family is also lending its experience and likeness to the Cure Sanfilippo Foundation, a non-profit organization working to “advocate for and fund research directed towards a cure and treatment options for patients with Sanfilippo syndrome,” according to its website.
“We’re definitely trying to raise awareness and pool funding together to focus research,” Anthony said. “Because of how few people there are with Sanfilippo, there’s not a lot of research going on compared to something larger. As a parent with two children affected, I would take any kind of trial for some sort of hope.”
“Knowing there is no cure,” Carolyn said with a pause. “We love them so much and we’re going to go through that with Alexa, and then we’re going to turn around and do it all again with Lacey. We try, for the most part, to be in the moment, love them and enjoy what we have.”