A two year old with an extremely rare condition has been bought equipment by Community Link Foundation to improve her quality of life.
Isla Rose Steel has Non-Ketotic Hyperglycinemia (NKH) which is a genetic, metabolic disorder caused by a defect in the gene code which affects the enzyme system that breaks down the amino acid glycine, resulting in an accumulation of glycine in the brain and body.
This can cause seizure, development delays, motor and speech issues sometimes blindness, many have a breathing and feeding tubes. Sadly, some children’s only milestone is a smile. Isla has to have 17 syringes of medicine a day to control the glycine.
When Isla’s mum, Sarah, was pregnant with Isla she was not aware of any issues with her health and it was only when she was five days old that ...