“We’d be lost without her. She’s like a fairy godmother!”
Alex was diagnosed with chronic granulomatous disorder (CGD) when he was five years old.
He’d started to feel unwell and 24 hours later he was in hospital with respiratory failure.
CGD is a rare and life-threatening genetic disorder which leaves children unable to fight bacterial and fungal infections.
Because it’s so rare, the support of clinical nurse specialist, Helen Braggins, is invaluable to families like Alex’s.
Helen, and her counterpart in Manchester who supports adults with CGD, are largely funded by Jeans for Genes Day through the Chronic Granulomatous Disorder Society.
“We were suddenly put into a terrible situation,” recalls Louise, “and then we were given a fairy godmother. I rely on her for everything!”
Helen liaises with statutory services, helping with statementing and making Alex’s teachers aware of his condition. Her help is particularly important as the family work for the armed forces.
Postings mean they move house often and Helen is vital in establishing care structures in their new area. She also helps them to get suitable housing as mould or damp are very dangerous for Alex.
“The aim for any child with CGD is normality,” Helen says. “If you think of his life as a football game, I’m the referee. I make sure that everyone involved in his care has the information they need and that Alex is getting the right treatment.”
Alex attends Great Ormond Street Hospital in London for his annual clinic with his consultant and Helen. It’s a chance for them to catch up, review Alex’s treatment and the drugs he’s taking.
“To us, Helen is the best reason to take part in Jeans for Genes Day,” says Louise. “We would literally be lost without her. Alex and other children would undoubtedly have more health problems without her expertise.”