The story of Nora

Nora Jane Almany was born on Monday, July 4, 2016. I had a normal pregnancy and normal delivery. When Nora arrived that evening, she did not cry like most babies. However, the nurses and doctors assured Andrew and me that not all babies come out screaming. Before leaving the hospital, Nora was not eating very well. She was being force-fed by syringe. She had not opened her eyes but maybe once or twice. We were sent home a day and a half later.

At home, Nora still was not waking up to eat, waking up to noises, or crying when she was hungry or needed a diaper change. Nora had her first visit with the pediatrician that Friday; however, it was not Nora’s pediatrician but the only one available that day. She informed us that Nora lost 10% of her body weight and that was alarming. When we told her that she wasn’t waking up to eat, and she wasn’t crying, she brushed it off. She sent us to the lab to have a heel poke done to test for jaundice. When Nora did not wake up from the heel poke, we knew something was wrong. We took Nora home and hoped that she was okay and that she would start waking up. On Saturday, after not waking up to eat once again, we decided to head to Mercy Hospital in St. Louis. Andrew called ahead and when we arrived, they were waiting for us. They rushed Nora to a room in the ER and began doing every test imaginable. When they started crossing things off the list that could be wrong, and their questions to us were becoming more in depth, we began to realize that something was seriously wrong. Once Nora was “critical, but stable,” they moved us to a room in the Pediatric Intensive Care Unit (PICU). The doctor was convinced at this point that Nora had a metabolic condition. Her lab results were rushed to the Mayo Clinic in Minnesota. On Tuesday, the results arrived and Nora was diagnosed with a rare, genetic, metabolic disorder called Nonketotic Hyperglycinemia, or NKH. When I first heard it, I remember thinking, oh, so she can’t break down sugar? Boy, was I wrong. The attending doctor, neurologist, and metabolic specialist sat us down and explained the disorder. Even though the information was grim and heartbreaking, we were happy to finally know what we were dealing with. Our next step was to transfer to St. Louis Children’s Hospital and begin treatment. That afternoon, we were transferred by ambulance to SLCH. Nora spent six weeks at Children’s Hospital.

In those six weeks, we experienced things I could have never imagined experiencing. Nora went through more in the first two months of her life than most people go through in a lifetime. We were told multiple times that our baby probably wouldn’t make it home from the hospital. The option was given to us more than once to take her home, make her comfortable, and watch her pass. That was unacceptable to us. Nora is now five years old and Andrew and I are so incredibly lucky and grateful. Even though Nora doesn’t do everything a “typical” child at her age would do, we are proud of her strength and determination. She has taught us more about love, patience, and acceptance than we ever thought possible. This is our new normal, and she is our superhero.

The Nora Jane Foundation was developed shortly after Nora was born. We are an official 501(c)(3) charitable organization with the mission to raise awareness and funding for research. Our goal is to find a treatment and one day a cure for this devastating disease.