N
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Hello, I am Nora!
I was born with a rare, genetic, metabolic disorder in 2016, and I am a superhero.
This is my story
About NKH
Nonketotic hyperglycinemia (NKH) is a rare, genetic, metabolic disorder caused by a defect in the enzyme system that breaks down the amino acid glycine, resulting in an accumulation of glycine in the body's tissues and fluids. There is a classical form of NKH and a variant form of NKH. The classic form is then further divided into a severe or an attenuated form (mild form).
The severe classic form of NKH typically presents in the first week of life with low muscle tone, lethargy, seizures, coma, and apnea requiring ventilator support. The ventilator is typically needed for a period of 10-20 days before the apnea resolves. A portion of individuals with severe classic NKH die during the neonatal period, often due to withdrawal of intensive care supports. All children with severe classic NKH who survive the neonatal period have severe developmental delays. Most individuals do not reach milestones past those reached by the typical 6-week-old infant. Seizures gradually worsen and can be difficult to control. Feeding difficulties and orthopedic problems can occur. Airway maintenance becomes poor over time due to low muscle tone, and is often the cause of death.
Individuals with attenuated classic NKH can present in the neonatal period or later in infancy. Presentation in the neonatal period resembles that of severe classic NKH. Those who present in infancy can have low muscle tone, lethargy, and seizures. Individuals with attenuated classic NKH have variable developmental progress. Developmental delays can range from mild to profound. They can often walk and achieve various motor skills. They often have hyperactivity and behavioral problems.
Treatment
There is no curative treatment for NKH. There are treatments that can improve outcomes. However, they do not cross the blood-brain barrier and are very hard on our children.
Sodium benzoate is used to reduce serum glycine levels. Benzoate binds to glycine in the body to form hippurate, which is excreted in the urine. This treatment reduces seizures and improves alertness. Plasma glycine levels must be monitored closely to ensure sodium benzoate is at an effective and non-toxic level.
Dextromethorphan is commonly used to reduce seizures and improve alertness. Dextromethorphan binds to NMDA receptors in the brain. These receptors are over-stimulated in individuals with NKH due to increased glycine levels in the brain. Glutamate is the neurotransmitter that predominately binds to these receptors. Dextromethorphan binds to the NMDA receptors, blocking glutamate from binding to the receptor. Ketamine is another NMDA receptor blocker that is also used. In patients with attenuated NKH, use of dextromethorphan can help with attention and chorea, and if treated early together with benzoate, can improve development and seizures.
Seizure management in individuals with severe classic NKH is difficult and usually requires multiple anticonvulsants.
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Nora’s Story
From Nora’s Mom, Amanda:
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 seven and we 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.
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Due to the rarity of the disorder, there are only two institutions in the U.S. researching NKH. If you’d like to support our fight for a better treatment, choose an option below.
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