Otherways to help
Purchase an Eva the Adventurer Book!
Eva is a bright, determined girl with a bountiful imagination. Available on Amazon for less than £5 – in 15 different languages!
All proceeds go to NKH Research
Get an NKH tshirt!
#ifhnkh is what parents say when they’re hating on NKH. And now it’s on a tshirt!
Tshirts are less than £20, comfy, wash well and all proceeds go to NKH Research.
Smile.amazon.co.uk and Easyfundraising.org.uk give donations to charities when you shop online through them. It’s super easy to use, search the retailer on the site or even better, install their toolbar for reminders to add the donation when shopping. Then shop like normal.
Every donation we make has a profound, profound effect on what the researchers can do. As an example, Joesph’s Goal funded £40k to Dr Nick Greene, who was able to bring his research forward by 18 months. That’s 18 months closer to a cure than we were!
How you can help spread the word
Update your Facebook Profile Picture
Show your support for NKH Awareness Day on May 2nd with a personalised Profile Picture. Upload your image and we’ll lay a frame over the top!
An easy way to spread the word!
About Nonketotic Hyperglycinemia
Also known as Glycine Encephalopathy, NKH is a rare and terminal genetic metabolic disorder. It prevents the processing of the neurotransmitter glycine, which causes seizures, low tone, severe neurological damage, developmental delays, learning disabilities, feeding disabilities and a vulnerable immune system. It’s also terminal.
It’s thought that the incidence of a child having NKH is 1/60,000 – it’s the second most common disorder of amino acid metabolism. Unfortunately, most babies with NKH don’t survive the first six weeks after birth. Those that do (approximately 20% of children with NKH) are not expected to survive past their fifth birthday.
There is no cure, and unfortunately treatment is not effective long term. NKH is considered terminal, and the suffering increases as the disease progresses.
More about NKH
About NKH Research
There are four NKH researchers worldwide. There are looking at various treatments, but the two leading methods are:
- Gene replacement therapy
- Chaperone therapy
Gene replacement therapy is the most effective therapy for the most number of NKH children. Gene replacement therapy is currently being researched by Prof. Nick Greene and his team at UCL in London, UK. He has an active mouse model and is in the process of proving that gene replacement therapy is an effective therapy for NKH in mice.
It costs upwards of £300,000 a year to run the NKH lab with two post-grad researchers. It’s estimated that if all goes well, a clinical trial might be possible within 5 years.
More about Research
Other NKH Charities
The campaign funds currently go to Joseph’s Goal because like Elly, Emma (Joe’s Mum) met with both Dr. Van Hove, Dr Halder and Prof. Nick Greene and have sat in their funding presentations. The Joseph’s Goal board will make informed decisions about where our funds can be most effective, and we trust them to do so.
However, if you would like to donate elsewhere, there are other NKH charities you can support: