I am taking part with a number of other family members in a charity run on Saturday 28th September 2019. This is in aid of a charity very close to our hearts. For those of you that don’t know the story – here is why.
On December 17th, 2018 my niece Rachel gave birth to a beautiful baby girl – greeted with incredible joy by the whole family, but especially by her parents and big sister Stella aged 3. Two days later Ava came home, and the family prepared for a truly happy Christmas together. However, by Christmas day Ava was in intensive care being ventilated and by the 30th December, Rachel and Andrew had received the news that Ava had the condition Non-ketotic Hyperglycinemia (NKH).
NKH is a rare, genetic, metabolic disorder caused by a defect in the enzyme system that breaks down the amino acid glycine, resulting in an accumulation of glycine in the body’s tissues and fluids. There is currently no treatment available for this condition.
Rachel and Andrew were able to bring Ava home and she had four extremely precious weeks with her family, surrounded by love. She died at home in the arms of her Mummy and Daddy on the 4th February 2019.
Rachel and Andrew would like to be able to offer hope to families in the future faced with this devastating diagnosis and have therefore asked us to take part in this event in memory of Ava.
Joseph’s Goal is the UK’s only NKH charity. Funds raised for Joseph’s Goal will be used for research by Dr Nick Greene as part of UCL. He is currently the world leader in NKH research, and we’re determined to give the research team the best chance at finding a cure. A gene replacement project has begun in the States. NKH is caused by one, or more mutations in the child’s genes.
This is a 12 km run around a Thames path loop. You can find information at www.nkhcharityrun.com
Any contributions that are made in memory of our sweet Ava would be greatly appreciated. Let’s support the research and help find a cure