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Family battles rare disorder

Abby Grace Ferguson, pictured above, suffers from a rare metabolic disorder called Sanfilippo Syndrome.

Abby Grace Ferguson, pictured above, suffers from a rare metabolic disorder called Sanfilippo Syndrome.

Staff Writer

Abby Grace Ferguson has an infectious smile. The vivacious 9-year-old is a little princess in every sense of the word. She loves to dance and play with Barbie’s and more than anything, wants to go to Disney World to meet Princess Elsa from Frozen. For all intents and purposes, she seems like a normal little Carolina girl, but the reality is that every day Abby is able to walk and talk is a blessing.
Abby was diagnosed with the rare Sanfilippo Syndrome, a metabolic disorder in which the body is unable to break down certain sugar molecules. The diagnosis came after Abby’s parents, John and Wendy Ferguson, noticed that their daughter was not progressing the way that she should have been, and that she was forgetting things.
“Abby developed normally until she was about four or five,” said Wendy, who lives in Dallas and works at CMC-Lincoln. “And the teachers kind of noticed it and she was our only child, so we really didn’t have much to compare to. She met all of her milestones and everything was normal.”
It was in kindergarten that the Fergusons, in conjunction with Abby’s teachers, realized that there was something potentially wrong. Testing within the school system led to I.Q. tests, which then led the Fergusons to seek the opinions of a neuropsychologist, a neurologist and, finally, after taking a visit to UNC-Chapel Hill, the family was faced with the possibility of Sanfilippo Syndrome. It wasn’t until test results came back that the Fergusons faced every parent’s worst fear.
Affecting one in every 70,000 children, Sanfilippo Syndrome is a form of mucopolysaccharidoses, or MPS. It has four different classifications, with Type A being the most severe. The inability to break down the long chains of sugar molecules called glycosaminoglycans has devastating and fatal effects on sufferers. Marked by developmental delay and regression that typically manifests between the ages of 2 and 6, sufferers of the syndrome undergo behavioral changes, deteriorating mental status, stiff joints that are unable to extend, blindness, the inability to care for themselves and a variety of other physiological symptoms. What is more troubling is that few sufferers of Sanfilippo Syndrome live past their teen years. Abby is already on a daily medication to prevent seizures. Abby suffers from Sanfilippo Syndrome IIIA.
It is this troubling fact that has caused the Ferguson family to take a stand and fight for their little girl. Because of the rarity of Sanfilippo, there is little to no funding when it comes to discovering cures. However, recent scientific breakthroughs have shown viable and effective cures in lab mice and that give the Fergusons and other families suffering from the syndrome hope. But with hope comes a steep price. In order to fund the clinical trial, $2.5 million is required. The initial million is to produce the drug and the additional $1.5 million is to begin the trial.
The hope of saving their daughter motivated the Fergusons to start a Go Fund Me website with the families of other children suffering from the disease. Though they set an original goal of $10,000, it was a heartfelt blog post picked up by the Huffington Post that not only helped the Fergusons meet that cap, but exceed it.
“I have a really good friend from high school and we reconnected on Facebook and she’s a blogger,” Wendy said. “She was really encouraging me to write this story, to write Abby’s story and so I did one day. I set up a blog site and the next day, I got an email from the Huffington Post. When that went on their website, our Go Fund Me reached the goal.”
As of press time, the Go Fund Me site has reached $15,098 out of the $20,000 goal that the family set after the initial $10,000 was met.
In spite of her condition, Abby Grace still smiles. She is 9 years old, yet from a developmental standpoint, she functions more along the lines of a 4- or 5-year-old. The Fergusons, though proactive in their attempt to raise awareness and funding for the mere possibility of participating in a trial that may or may not yield a cure for their daughter, have maintained that Abby is just a regular girl.
“This year, she’ll go into fourth grade,” Wendy said. “For 40 percent of the day, she’s in a regular class. The other 60 percent she goes to special education.”
“She’s trying to retain everything she’s learned,” John said.
“We try to keep everything as normal as possible,” Wendy said. “She does dance. She does therapeutic horseback riding. Girl Scouts. What she knows is that she goes to the doctor a lot and that she gets special teaching. If she knew she was sick she would just worry herself to death.”
The clinical trials are slated to begin in October of this year, but the exact timeframe is still up in the air, particularly because of the funding aspect and the legal hoops that would be required in order to have the drug approved and available. Even then, the trial will only accept 15 participants worldwide.
“It’s an odd feeling because we’re working together, but there are only 15 spots,” Wendy said.
“People in Europe want to be in it,” John said. “People in Australia want to be in it.”
“People are doing what they can to save their child,” Wendy said.
For more information on the Abby Grace Foundation, visit www.abbygracefoundation.org, or to donate to the clinical trials for MPS and Sanfilippo Syndrome, visit www.gofundme.com/abbygracecure.

Image courtesy of Contribution

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