Karen Garloch

Huntersville mother wants attention for Rare Disease Day, Feb. 28

When Eliza and John Rista of Huntersville first saw their son, Johnny, on Feb. 20, 2013, he let out a wail like other newborns.

They held him, bathed him and loved him. “He was wonderful and perfect,” his mother said. “We had no idea anything was wrong.”

But 10 hours later, their baby started turning blue and was moved to the neonatal intensive care unit at Levine Children’s Hospital. Doctors and nurses said it was “like a tire losing air,” Eliza said. Johnny had enough breath to last from 3:16 p.m., when he was born, to 1:30 a.m., when they put him on a ventilator. That machine did the breathing for him until, after a continual decline, his parents agreed with the doctors that it was time to stop mechanical support. He died on March 4, when he was 12 days old.

No one could explain what happened, Eliza said. “They told us, ‘We don’t know. It’s a terrible fluke.’ That was the word. Fluke. ‘We don’t know. We’re sorry.’ ”

A month later, an autopsy revealed that Johnny had alveolar capillary dysplasia, or ACD, a rare disease in which the capillaries and small veins of the lungs fail to develop properly before birth. It is always fatal and can be diagnosed only through an autopsy or a biopsy.

Only 400 cases have been diagnosed since the 1940s. Eliza said the neonatologists at Levine Children’s told her they had never seen or heard of it.

After 12 days of being with Johnny constantly in the NICU, Eliza didn’t know what to do. The nurses and social workers, who had been wonderful and attentive throughout the ordeal, referred the family to Kinder Mourn, a Charlotte organization that helps grieving parents and children. But Eliza kept looking for an explanation about how this had happened to her “perfect” family and some way of bringing attention to “a disease like his that nobody else has.”

Through Cam Brasington, a genetic counselor at Carolinas HealthCare System, the Ristas learned that researchers at Baylor University had discovered a genetic marker for ACD. Brasington took blood samples and sent them to Baylor for testing. Thankfully, the Ristas learned that Johnny had not inherited the disease. That meant their 2-year-old daughter, Annie, wouldn’t have to worry about passing it on to future children. And the Ristas could try again to have a baby, without worrying the child would die like Johnny.

Eliza, 33, formerly an attorney with Moore and Van Allen, and her husband, John, 34, a financial analyst at Bank of America, are expecting their third child, another daughter, named Grace, in May. They’re thrilled, but they still have questions.

One day in the last year, while visiting a neighbor, Eliza said she looked out the window at her own house across the street. “The sun was shining. The grass was green. It was perfect. We had the perfect life. I was wondering to myself, ‘How in the world, out of 400 cases in the whole world, did it hit that house?’  ”

She’ll probably never get an answer. But she hopes to raise awareness and research money for ACD in connection with Rare Disease Day, Feb. 28, sponsored by the National Organization of Rare Disorders ( www.rarediseases.org).

“I want to help the families that are behind me,” Eliza said. “… I want to keep that study at Baylor going. I really want to get people motivated to maybe find a cure.”