Girl battling rare genetic disorder


Abigail Sawyers, 11, right, who suffers from a condition known as 16p13.11 microduplication syndrome, is shown with her mother Bobbie, middle, and sister Laicey. Abigail is holding some of the horse figurines she collects, while her sister and mom display dog-shaped lollipops being sold to help raise money to train a service dog for Abigail.

Max, a poodle, will help Abigail avoid medical emergencies once he is trained by a service-dog expert in Westfield.

The world has about 7 billion people, and less than 200 of them are known to share something in common — one of whom is a girl from Pinnacle.

Being in such a select group that goes against the mathematical odds so heavily would be a good thing if one were talking about winning the lottery, but not being diagnosed with a rare genetic disorder.

Abigail Sawyers, 11, is a sufferer of 16p13.11 microduplication syndrome, which involves a specific chromosome abnormality. There appears to be no acronym or short name for this condition, such as “TB” being used to refer to tuberculosis.

In layman’s terms, 16p13.11 microduplication syndrome refers to an extremely uncommon genetic variation in which there is an extra copy of a tiny piece of chromosome 16, one of the 23 pairs of chromosomes in humans which carry one’s gene’s in a certain order. Genes are the basic physical unit of heredity — which define a person’s overall makeup.

The duplication is found near the middle of the chromosome at a place called p13.11, which is where the other numbers in the condition’s name come from. Because the extra copy of the chromosome is quite tiny, it is referred to as a “microduplication.”

On the surface, Abigail Sawyers appears to be a normal 11-year-old. She is bright and articulate, an avid reader, enjoys her family’s horses and is a collector, being proud of her array of horse figurines of all types, numbering about 70 total. She hopes to one day work in the equine genetics field.

But belying that outward appearance are a laundry list of medical issues associated with the genetic disorder, which Abigail’s mom, Bobbie, said stem from the DNA quirk. It could be described as one’s hard wiring being out of whack at the core of his or her existence, which causes various functions to go awry.

The Pinnacle girl is now coping with a number of problems, ranging from a choking disorder to spinal abnormalities. Abigail has high-functioning autism, asthma, experiences trouble sleeping and has an anxiety disorder. Sensory issues and a hidden cleft palate are among the other conditions she struggles with on a daily basis.

And Bobbie Sawyers said there are concerns that the genetic disorder could manifest itself in other ways as her daughter nears age 30 or 40, such as heart complications and seizures.

“There is no cure,” Abigail said matter-of-factly when talking about her daughter’s condition Thursday.

The only thing that can be done is treat the various medical conditions that arise because of the disorder.

Abigail, who attends school on a limited basis and will be in fifth grade this fall, now must take about seven medications per day for allergy, anxiety and asthmatic problems and sometimes has up to three appointments per week with doctors, specialists and therapists.

However, one bright spot involves plans to equip her with a service dog, a young poodle named Max, which the family hopes will enhance Abigail’s quality of life by allowing her to be more independent while also safeguarding her health. For example, the dog will react whenever she chokes on food or quits breathing during sleep.

A fundraising campaign is under way to pay for a Westfield trainer to prepare the dog for assisting Abigail, including designated donation sites and sales of lollipops in the shape of a dog.

“We hope to get him here in North Carolina next week,” her mom added Thursday of the poodle being obtained from a breeder in Arkansas.

At a loss to explain

“We didn’t know anything about genetics or chromosomes or anything like that,” Bobbie Sawyers said of her and husband Nolan’s knowledge of the medical intricacies involved before Abigail’s diagnosis in 2009.

“When she was born, everything was normal — the tests came back normal. Nothing came back that made us concerned.”

However, certain problems became noticeable over time, Abigail’s mother said, terming them “global development delays.”

“She was a little later learning to walk, saying words — it was hard for her to put sentences together.”

Yet knowing there were developmental problems was only half the battle, as the family then had to find out why these were occurring. That was made more difficult due to the rarity of the condition, one with which most doctors never have to deal.

Bobbie Sawyers said much of her knowledge early on came from comparing notes with other victims of the microduplication syndrome. “When I found other people, the light bulb finally went off,” she said, which led to her sharing that with the mystified physicians.

“I had to present all this information to her doctors,” the mom recalled. “It definitely felt like a one-person show, to have to basically be the one to find things and bring it to them.”

Once the likely cause was pinpointed, doctors were able to concentrate their testing and indeed found Abigail to be suffering from 16p13.11 microduplication syndrome.

“They kind of just looked at us and said, ‘this is what you have,’” Bobbie Sawyers recalls.

This would lead to another troubling revelation on her part.

“They tested me to see if this was passed on genetically,” the mom continued. “So they found I actually have the duplication — it was my fault, and that was hard to swallow for a long time.”

Plans for dog

The Sawyers family is excited about the pending arrival of Max, the service dog, but it isn’t a cheap proposition.

Buying the $1,000 animal was actually one of the least of the financial challenges involved, which the breeder aided with a $500 discount.

The shipping cost for Max is $600, and then training is in store — which will be about a six-month process by a woman in Westfield, costing $8,000. The trainer is familiar with such situations due to having an autistic son.

“So far we have raised $2,000,” Bobbie Sawyers said, which includes a $1,000 scholarship provided by a special foundation.

The trainer is not requiring all the money up-front, and will allow the family to make payments along the way, after an initial $1,500 is submitted.

In the meantime, various efforts are generating funds.

This includes an account being set up in Abigail Sawyers’ name at Capital Bank, where contributions can be made at any branch of that bank.

There is also an online donation site at gofund.me/aDogForAbigail and the canine-shaped lollipops are available at the Frances hair salon in Pilot Mountain and other businesses in that area for $2 each.

Along with trying to improve her daughter’s lot in life, Bobbie Sawyers is seeking to spread awareness about the rare disorder and the fact there is hope for sufferers of such conditions.

“It’s important for people to…be aware of things they just can’t see,” she said, “and not to give up just because a doctor doesn’t see what you see — you just have to keep pushing through.”

Despite her medical issues, Abigail manages to keep a smile on her face that serves to inspire those around her. “When you go through these things, first of all you see how strong you are and how strong she is and she’s definitely an inspiration to us,” the girl’s mother said.

“She makes up for it in so many ways,” Bobbie Sawyers observed, mentioning her daughter’s intelligence and other special qualities.

“Abigail is amazing,” she said. “She has a pretty cool way of looking at things…she’s a pretty unique child.”

Tom Joyce may be reached at 336-415-4693 or on Twitter @Me_Reporter.

comments powered by Disqus