My name is Charlene Bace. I have 2 children. I have a daughter Ellie 4 years old and a son Arthur 10 months old.
Arthur has Non Ketotic Hyperglycinemia. Arthur was diagnosed at 10 days old after numerous tests.
Since Arthur has been born he has spent majority of his life either in hospital or at our local children's hospice. He was sent from hospital at 2 months old to Hospice for end of life care, however after 6 months of being there he stabilised and we came home.
Life with a child who has NKH is hard, harder than I ever thought it would be. Not only is it physically draining because of the special needs aspects and the daily seizures and relentless measuring out drugs and trying your best to keep the seizures under control but it's mentally draining. Knowing your child will die one day is hard going, each sniffle he gets we are very aware it could trigger more seizures and kill him. He could just stop breathing any day. What makes things so tough is that no one knows anything about NKH. None of our "professionals" know anything about it sadly therefore we end up teaching them what we know. We look for help and guidance from them but we don't get it.
One thing that was vividly clear when Arthur first got diagnosed and still is now is the fact that there is no info in books, web pages or even hospital info about NKH and the research being done here in the U.K is just not enough. We need so much more being done and more more money invested in it. The fact that it is us NKH families that are having to find this research is hard going. We have so much to deal with and manage without having the added pressure of needing to raise money for research. No I know we don't HAVE to but if we don't, who will?
For us as a family raising awareness and money for research is something we try so hard to achieve. Since Arthur has been diagnosed in March this year we have raised over £20,000 so far for NKH research (Joseph's Goal). We also raise as much awareness as we can through social media, local news papers, radio interviews and attending events where we have stalls selling merchandise we have had made to raise money for research and awareness.
We raise all this money because we support the research that is being done with gene therapy. We believe that the research into gene therapy is the best way forward as it will have a much bigger impact on the NKH families because it would help every child with a mutation in the GLDC gene so roughly 80% of the NKH population. So in comparison the chaperone therapy being looked at by other researchers facets individual mutations. With over 400 NKH mutations recorded so far it means it will help less families.
The main reason we support research is because we want a cure. If not for us for us other families so they don't have to go through what we have to go through.
Please if you can help support this research, please do.
You can see more about us and Arthurs journey here
Twitter - @ArthurSpackman
And also a link to our just giving page - https://www.justgiving.com/fundraising/ArthursAdventuresNKH
Thank you for taking the time to read this.