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 she started to notice her hands twitch. They took her to hospital and she was kept in for four days but they couldn’t find anything wrong with her. They were told that she would have an EEG a few weeks later and they were sent home.
A few days later, Sarah noticed the movements again and took Isla to Alder Hey. She was kept in for six weeks while they did tests including an MRI, MRS, IVS, three lumbar punctures, sedation and EEGs. The tests confirmed the devastating news of a diagnosis of NKH.
Isla needs 24 hour care and takes a whole range of medication every day. But, she is a happy toddler who loves clapping, singing, playing with her giraffe. Against all odds, Isla is thriving daily. She is nearly sitting independently with no support and army crawling and standing with support.
Sarah applied to Community Link Foundation for funding to purchase a hypervibe – a vibrating plate to help with her physio.
Sarah said: “We use the hyper vibe everyday. We use it for sitting exercises, standing and shoulder and exercises to strengthen Isla body. It also activates her vestibular system. I have noticed a huge boost in Isla’s strength and balance all through her body since using the hypervibe. We are incredibly grateful for what Community Link Foundation has done for us.”
Enda Rylands, chairman of Community Link Foundation, said: “We are really pleased to have been able to purchase this for Isla Rose and are delighted to hear of the benefits it is already having for her. We are very grateful to everyone who continues to support us and makes it possible for us to help children like Isla Rose.”
