All For Alice

I'm running this years London Marathon 2013 in aid of my friend's daughter, Alice, who suffers from the rare disorder NKH.

Non Ketotic Hyperglycinemia is a genetic, inherited metabolic disorder. Its is incurable and life expectancy is generally a few weeks to years. Babies with this condition cannot produce an enzyme that breaks down glycine. Glycine is an amino acid essential for virtually all bodily functions. Inability to metabolise glycine causes two problems. The first is if you cant break it down, you cant use it and we need it to survive . Glycine builds brain tissue, all muscle tissue, it gets messages from your brain to your limbs etc and the second problem is, if you dont metabolise it, poisonous levels build up in the body. This causes on going brain damage (think Huntingtons Disease), uncontrollable seizures, often an inability to eat or drink, movement disorder (think Parkinsons), severe physical and mental disabilities. Sufferers that survive the first few months and are severely effected are generally tube fed, can't walk, talk, are mentally retarded and can have hundreds of seizures in a day. There are milder forms of the condition, but life expectancy and outcome is still not favourable even in mild cases. About 20% of survivors will walk, about 5% can use words to some degree but it is thought that more than 50% die within the first few months of life.
At this stage it looks like Alice will be mild or mild/moderate. She cant crawl or walk but she can stand if someone sits next to her and she gets around by rolling. She is exclusively tube fed as her brain cannot co ordinate swallowing, she has a bad movement disorder and any big illness would most likely be to much for her body to handle. So far at 18 months she has had very few seizures and seems to be in the few percent that get away with that part of the condition. Many kids with NKH cant even smile but Alice is very very happy and smiles and giggles every day. We don't know how long we have with her and NKH can take a child so quickly. Things can be going well one week and you have lost them the next and sadly the last year that has really been brought home to us as we have seen several NKH kids die, some milder than Alice.

All For Alice is to raise much needed funds to find a cure for NKH. The only real research being carried out on this condition is being undertaken by Dr Johan Van Hove at the University of Colarado in the USA. All funds raised will go direct to his lab to aid his research.

Click on link below to read about Alice and her family.

stuff.co.nz/national/health/7636768/Alice-defies-the-odds