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Our beautiful son Arthur has a rare genetic metobolic condition called Nonketotic Hyperglycinemia (NKH for short).

Nonketotic hyperglycinemia, NKH for short, is a rare genetic disorder that affects 1 child in every 76,000 born. 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).

There is no cure for NKH but there are treatments.

Sadly the mortality rate for children born with this condition is high and many die before they make it out of toddlerhood. Those that survive are often extremely disabled both mentally and physically with uncontrollable seizures.

That's NKH in a nut shell - Shit hey!

We have been in contact with Professor Nick Greene who is one of the researchers into finding a cure for NKH and want to raise fund to help keep this research going.  Children with a rare metabolic disease called non-ketotic hyperglycinemia (NKH) may one day benefit from research by Professor Nicholas Greene of University College London’s Institute of Child Health. Children with this devastating condition normally become ill soon after birth. Sadly, some lose their lives while just babies, some others during childhood. Professor Greene is investigating the disease processes that cause children’s symptoms, assessing the benefits of existing treatments and searching for new therapies. Although his work is still in the laboratory stages, Professor Greene hopes to develop treatments that one day reduce children’s suffering and perhaps even save their lives. 

Josephs Goal is one of the very few charities raising money for this research.  That's why we are supporting this charity.