Fundraiser set for cure for rare genetic disorder
by Eddie Burkhalter
eburkhalter@annistonstar.com
Feb 21, 2014 | 5630 views |  0 comments | 50 50 recommendations | email to a friend | print
Nina Moxley's young daughter, Ava, has a serious genetic disorder that only about 500 or so in the world have.  Photo by Bill Wilson.
Nina Moxley's young daughter, Ava, has a serious genetic disorder that only about 500 or so in the world have. Photo by Bill Wilson.
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Saturday evening Ava Moxley will take part in her first beauty pageant at Munford High School. She’ll wear a purple and silver dress, her hair put up in curls.

There’s no guarantee the 3-year-old will know she’s in a pageant, but her mother is holding out hope.

“I’m hoping she wakes up, and that she likes it,” Nina Moxley said.

Moxley knows a cure won’t help her daughter, but it could help others from getting the genetic disorder that will likely take her child’s life.

Ava was born with nonketotic hyperglycinemia, also called NKH.

“She has uncontrollable seizures. She has no control of her body, so she can’t sit up or hold her head up. She can’t walk or talk,” Moxley said.

Symptoms can include those seizures, and severe learning and development problems, according to information on the NKH International Family Network website, an education and support organization for the disorder. NKH can drastically affect a child’s ability to learn, eat, sit and walk.

“She does cry, and she knows things,” Moxley said. She knows when she’s in her mother’s arms, she said, but she sleeps a great deal.

“It’s an inherited defect in the ability to metabolize glycine,” said Dr. S. Lane Rutledge, a physician at the Children’s Hospital at Birmingham and one of Ava’s doctors.

It’s an often fatal, incurable but treatable genetic disorder. Children with NKH can have a significant neurological injury from the disorder, Rutledge said. Some children have a lesser form of the disorder, but most do not, she said.

“It’s a very severe brain disease,” Rutledge said. “There are some treatments. They’re just not very effective.”

It’s such a rare disorder most families that discover it after a birth never knew they were carriers of the mutated gene that causes it, Rutledge said.

“I’ve probably seen 15 in 25 years,” Rutledge said of the number of NKH cases she’s treated.

The family will hold its fourth annual fundraiser March 1 at Munford Baptist Church at 326 1st Ave. N. from 10 a.m. to 2 p.m. There will be singing, plates of food and a raffle. All proceeds will go to the nonprofit NKH Crusaders Foundation, which sends the money to researchers working on the disorder.

All the money from the family’s fundraisers — about $12,000 to date — has been sent to the organization, Moxley said.

“To me, there was no gift that anyone could get her better than a cure,” Moxley said. “The first year I thought a cure would save her. I later learned it can’t, but we still do it, because I feel like Ava and I need to make a difference.”

If they can save one child and one family from going through the same thing, it’s all worth it, she said.

Ava takes 15 different medications to keep her alive. Family trips to Children’s Hospital in Birmingham are constant. Ava’s been admitted more than 40 times in three years, all paid for by the family’s insurance policy and Medicaid.

Many children with the disorder die within the first few weeks of birth. Most don’t make it past toddlerhood, Moxley said.

About one in every 60,000 children are born with NKH, according to the National Institute of Health, but because it’s not a widely studied disorder, the worldwide number of children with the diagnosis is hard to know for certain. The disorder is passed down to the child by both parents, each carrying a mutated copy of the gene, typically without showing symptoms.

Moxley, 29, is studying social work at Jacksonville State University. She had wanted to teach, but that changed after Ava’s birth.

“Since having her I feel like I need to help other families,” Moxley said. “When I had her I was left to the wolves. I really didn’t have anybody to help.”

Staff writer Eddie Burkhalter: 256-235-3563. On Twitter @Burkhalter_Star.

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