Rare genetic disorder - charity event is planned

Christine Balmer and her husband Raymond are staging a ‘Take Me Out’ style night of entertainment at The Big House on the Crankill Road, on Friday, September 20, with proceeds going to the National Society for Phenylketonuria (NSPKU).

The couple have three children, Zoe (4), Riley (1), and, two-year-old Ethan who was diagnosed as having PKU following a routine heel prick test when he was just a couple of weeks old.

PKU is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine, which is found in the protein part of food.

Treatment is a low protein diet which means that foods such as meat, cheese, poultry, eggs and milk are not permitted.

Instead the diet is supplemented with artificial protein which contains no phenylalanine.

“It’s a daily struggle to get Ethan to take his supplements which he needs because they play a major part in brain development and growth,” said Christine.

“If supplements aren’t taken and phenylalanine levels aren’t under control there is a risk of delayed development, behavioural problems, disability, psychiatric disorders and seizures,” she pointed out.

Christine revealed that the couple are currently waiting on results in relation to Ethan’s risk of taking seizures and that the two-year-old also has to attend a psychologist at the RVH for regular psychiatric evaluation.

She says that the NSPKU offers much needed help and support for people with PKU, their families and carers.

The charity also promotes the care and treatment of people with PKU and works closely with medical professionals in the UK.

NSPKU also sponsors medical research into the rare genetic disorder.

Run by volunteers with PKU and their families, it also provides practical help for sufferers such as making available suitable food lists and organising events such as family fun days, cookery demonstrations and conferences on PKU.

Christine says she is hoping that the forthcoming ‘Take Me Out’ style fundraiser, which will be hosted by friend and popular entertainer, Dale Thomas, will be well supported by local people.

Doors open at 9pm to both show ‘applicants’ and the audience with the fun getting underway at 10pm.

Entry for the evening, which also includes a disco, is just £10.