Thanks for taking the time to visit our JustGiving page.
None of us had heard about NKH until our gorgeous boy, James Reilly was diagnosed at 5 weeks old. We did some research and found that there is no cure and only one Doctor who is looking for one. So we want to raise money to help with research costs.
Children with this condition have a problem breaking down the amino acid glycine. This is caused by a defect in the genetic code for the machinery that is responsible for the glycine breakdown (called glycine cleavage enzyme). Amino acids are natural components of our body. Because glycine is not broken down, it accumulates in the body. Glycine is an important molecule in the brain where it has various functions such as transmitting signals from one brain cell to another. Excessive glycine disrupts the function of the brain.
Typical symptoms include seizures, low tone, and severe problems with learning and development. This can profoundly affect a child’s ability to learn and to do normal things such as eating, sitting, and walking. The seizures can be so severe that they are hardly controlled despite the use of several medications for seizures. Not all children are equally affected. Most commonly children are severely affected and do not make developmental progress and have difficult to control seizures.
There is no cure and treatment options are limited...
This is the page we will use to fundraise for all of the events we are going to do. Sponsored swims, charity discos, sponsored marathons and lots more.
To Text a Donation simply type NKHJ77 and your amount (£1, £2, £5 etc) to 70070
Thank you in advance x