Charity Ball - Prime Care (GB) Ltd

Date: Friday 26 Nov 2021

Organiser: Prime Care (GB) Ltd

Prime Care (GB) will be hosting a Charity Ball on Friday, 26th November at the Bliss hotel in Southport helping raise funds for the Isla Rose foundation.

Here is Isla’s Story told by her mum, Sarah.

After a wonderful pregnancy, Isla was born on the 30th of September 2018. When Isla was 5 days old, I noticed her hands twitch side to side and her eyes went up slightly! I told people and everyone told me it was normal newborn tremors, but I felt something was wrong so I took her to the hospital. We stayed there for four days and they couldn’t find anything wrong. We would have an eeg in late November and sent us home! A few days later I noticed the movements again and this time we went to Alder Hey instead. We ended up staying there for 6 weeks while they did multiple tests including MRI, MRS, IVS, three lumbar punctures, sedation and EEG's. When the tests confirmed we were told the devastating news of a diagnosis of nonketotic hyperglycinemia (NKH) and I felt like I’d been shot I couldn’t breathe.

Non-ketotic hyperglycinemia (NKH) is a rare, genetic, metabolic disorder caused by a defect in the GLDC or AMT gene code which affects the enzyme system that breaks down the amino acid glycine, resulting in an accumulation of glycine in the body's tissues and fluids. NKH typically presents in the first week of life with low muscle tone, lethargy, seizures, coma, and apnea requiring ventilator support. NKH is caused by genetic variants (mutations) in the genes that encode the components of the glycine cleavage enzyme system. The incidence of NKH is predicted to be approximately 1:76,000. NKH can occur in individuals of any ancestry. There are approximately 500 children with NKH worldwide.

There is no curative treatment for NKH at this time.