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Two Valley families support each other through rare genetic disorder

There are only about 500 known cases of NKH in the world, and two of them are in the Shenandoah Valley.
Published: May. 2, 2021 at 9:38 PM EDT
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ELKTON, Va. (WHSV) - May 2nd is Nonketotic Hyperglycinemia or NKH Awareness Day.

NKH is a rare genetic disorder that causes the amino acid glycine to build up in the body and can cause eating and breathing problems and uncontrollable seizures.

There are only about 500 known cases of NKH in the world, and two of them are in the Shenandoah Valley.

Eddie Kirby and Joni See of Elkton received news they were not expecting to hear when their daughter Jackie was born.

“She was born and the hospital told us that she was the limpest baby they have ever seen,” Kirby said.

Jessica Evans of Waynesboro had a similar experience when she gave birth to her daughter Atiya.

“When she was born she didn’t cry or anything. She was quiet and they were like ‘oh she’s just a lazy baby,’” Evans said.

Tests were run and diagnoses came back. Both children had NKH.

“At the time, her doctor had only had two cases in his whole 25-30 years of being a doctor,” Evans said.

The day to day life is hard for kids with NKH.

Both Jackie and Atiya get over 20 doses of medicine a day.

The families’ lives were changed when Evans found See through Facebook and realized they were connected in another way.

“My heart starts bumping and I’m like ‘oh my goodness there is a kid like 30-45 minutes away from us that has NKH,’” Evans said.

“500 cases in the entire world and we have someone that lives 30 minutes away, right here. Pretty bizarre,” See said. “But we are grateful,” Kirby said.

Evans and See were able to meet in person at the UVA medical center.

“She came and she showed me pictures of lots of other NKH kids that were thriving. It was so good to hear that there is other people out there and these kids are thriving,” See said. “It gives you hope,” Kirby said.

The prognosis for children with NKH is not good, but today Atiya is almost 12 years old and Jackie is about to be 16 months old.

“She’s God’s angel here on earth,” Kirby said.

The families say it is great having someone to relate to.

“There’s hope for these kids and that is what keeps us going,” See said.

Kirby and See started a non-profit called “Jacqueline Kirby NKH Funding Project.

The goal is to raise money for NKH research and treatments, and over the last year have donated about $15,000.

Once the pandemic is over, both families look to share more time together.

You can follow Atiya’s journey on Facebook here.

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