I am running my very first Marathon fell race for my great-niece, Esmae, she was born on the 18th May 2018 after a fairly uneventful pregnancy. Unfortunately at 7 weeks old she started to have seizures and was diagnosed with a rare genetic disorder called Nonketotic Hyperglycinemia (NKH).  As yet we do not know how the condition will affect Esmae. 

Nonketotic hyperglycinemia (NKH) is an inherited condition in which the body is unable to breakdown and process some of the building blocks of protein (amino acids). It is considered an amino acid condition because it can lead to high levels of the amino acidglycine in the body. 

NKH is considered terminal and around 15% of children with severe NKH aren't likely to survive their first month. There are less than 500 known sufferers in the world and less than 40 in the UK. The average age at death for sufferers of NKH is 3-5 years old. The oldest known living person with severe NKH is in his 40's and lives in Australia. 

There are only 3 research teams looking at NKH treatments, UK, Colorado and Indian. They are not funded by pharmaceutical companies, as NKH is so rare treatment is unlikely to turn a profit. Please help us fund more research. 

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