When Sally and Paul Trewartha were expecting their little boy Harry six years ago, they learned that he would be born with serious heart problems. Friends at St Luke’s prayed urgently for Harry as he went through open heart surgery at just four days old, and anxiously waited for news. We all breathed a collective sigh of relief when he was finally released from intensive care and was on the road to recovery.
It wasn’t until 18 months later that Paul and Sally discovered the source of Harry’s heart problem was a rare genetic condition called Kabuki syndrome, which can also cause cleft palate, learning difficulties, hearing loss, hypotonia (low muscle tone) and a wide range of other complications.
Kabuki syndrome affects only one in 32,000 births, and most people have never heard of it – even those in the medical profession. The families of children with Kabuki are often left feeling isolated, afraid and without the information they need. So last year, after connecting on Facebook, Sally and five other parents set up Kabuki UK. It’s the first UK organisation for people with Kabuki and their families, and it aims to raise awareness, provide information to families of newly diagnosed children, and fundraise – for example, to provide essential equipment for children that isn’t funded by the NHS.
Just as importantly, Kabuki UK is building up a community of families who can meet and support each other. The charity recently ran its first family day and, for many people there, it was the first time they’d met anyone else who shares their experience. You can see a short film about the family day here: http://www.youtube.com/watch?v=Tf-2bCiX3mg. If you know the Trewartha family, look out for Harry in the film. He’s now nearly six – a gorgeous, bouncing boy who’s enjoying his first year of school, and is a proud older brother to Toby.
To learn more about Kabuki syndrome and Kabuki UK, visit www.kabukiuk.org.uk. The charity is keen to hear from anyone who can offer individual or corporate sponsorship, to help with its vital work.