It is estimated that less than
500 children are living with NKH worldwide.
is a rare genetic metabolic disorder that prevents the body from processing glycine, resulting in an accumulation in the tissues, fluids, and brain.
Glycine is a key amino acid, which are the building blocks of proteins. Some foods contain glycine, such as gelatin and meats, but the body produces the majority on its own. Glycine is vital to the growth of tissue, hormones, and enzymes. It helps to connect signals from one brain cell to another.
Excessive glycine severely disrupts the function of the brain, affecting the ability to eat, sit, walk and talk. Currently, there are no meaningful treatments. Parents are often advised not to treat. Lucy’s parents were told that this diagnosis was ‘as bad as it gets’.
Early specialists told Lucy's parents that she’d likely never smile or even recognize people or surroundings. She would be blind, or near. She would be tube fed and plagued with respiratory problems. She would not sit, walk, or even lift her own head. They were advised not to treat her because her quality of life would be so tragic.
Her parents, however, chose to begin treatment immediately with the only available options: sodium benzoate and dextromethorphan. They were counseled, told that arrangements were being made to place Lucy on hospice, and discharged.
NKH parents have affectionately named their kids "Bumblebees," as the bumblebee aerodynamically should not be capable of flight, though they fly regardless. Researchers are currently working to develop hopeful new treatments, including gene therapy.
Incidence of NKH ranges from 1 in 60,000 births to 1 in 250,000 births depending on the region. However, because 80% pass during the first weeks of life, there is less than 500 people living with NKH in the world today, and rarely do cases live into early adulthood.
How can I help?
Contribute to research funding.
Two prestigious US institutions are deeply committed to NKH gene therapy .
CRISPR gene editing technology has been moving at warp speed and there have been significant recent NKH-targeted breakthroughs.
A true cure is finally on the horizon. By contributing towards NKH research, you are helping both immediate and potential families with NKH children.
NKH research is largely financed by the fundraising efforts of parents whose children have NKH. This is the case with nearly all rare and neglected diseases. Since the community is so small, NKH families around the world are tight and they are mighty.
Click the arrows to explore.