How is NKH treated today?

Today, care for nonketotic hyperglycinemia focuses on managing symptoms rather than fixing the underlying problem. Under the direction of metabolic and neurology specialists, families commonly use sodium benzoate, which helps the body clear glycine, and dextromethorphan, which can dampen some of glycine's effects in the brain. Many children also take one or more anti-seizure medications. Some care teams try a ketogenic diet.

Supportive care is a huge part of daily life: feeding tubes, oxygen and breathing support, suction, physical therapy, and close monitoring. Treatment plans are highly individual, and nothing here should be taken as medical advice.

Tarah has written that treatment for NKH saw essentially no advancements in 30 years. Over the past decade the O'Sullivans have tried, with their doctors, nearly everything they could find for Drake and Vivian. Some approaches helped for a season; none addressed the root cause.

That's why the family turned to gene therapy, which aims to give cells a working copy of the gene they're missing. Learn about EmetAbba, or help fund the trial.

Sources: GeneReviews (NCBI): Nonketotic Hyperglycinemia · NORD: Nonketotic Hyperglycinemia