My name is Kristin and I would like to tell you about our son Thomas who has Non-Ketotic Hyperglycinemia (NKH).NKH, or glycine encephalopathy (GCE) as it is sometimes called is a rare, devastating, and incurable disease. It has a very wide spectrum of severity. I am told that most babies born with this disorder die shortly after birth. Before death, they go through a period of lethargy, weak crying, generalized hypotonia, and seizures. Many babies that are born with this disease die within the first 3 months of life. Sometimes a child survives for a few years, but with various lifelong issues. There are several forms of NKH. We are lucky that our son has been diagnosed with atypical NKH, which is the mildest form.
No parent wants to learn that their child suffers from an incurable disease. Because there are less than 500 children living with NKH worldwide, research for a cure is nearly non-existent. We want to change that... we must change it. Since January 2010 we have lost over 70 children to NKH. Our families want to do everything possible to ensure that their children have a fighting chance for a normal, healthy life. In order to fulfill this dream, we need to fund research for more treatment options for our children.
WE NEED YOUR HELP!
During Pandemic we have had to get creative to keep research funded. We have been offering virtual walkathons and would love to see you at our next event! In the meantime, drop by our Raffle page and help us raise money for NKH Research for gene therapy.