Susan Stilwell will never forget the day her family’s world fell apart. As she and her husband Shawn reeled in shock, they knew nothing would ever be the same again.
Test results had revealed the Sydney couple’s beautiful young son Harry was suffering from one of the cruelest diseases imaginable.
The happy six-year-old had been diagnosed with juvenile Batten disease – a rare genetic condition that gradually claims sufferers’ eyesight, speech and movement, with affected children dying prematurely.
‘I collapsed to my knees when I heard,’ says Susan, her voice breaking. ‘I kept saying: “This just can’t be happening.”
‘There was an immediate bond when I first laid eyes on Harry,’says the mother-of- three. ‘I thought he was gorgeous. He’s got beautiful little lips and serious big blue eyes.’
Life progressed normally for the loving clan until last year when Harry began school.
It was then that his teacher alerted Susan, 42, and Shawn, 44, to the possibility that the youngster was having issues with his sight.
‘I thought he’d probably just need glasses,” says Susan, who is also a devoted mum to Oliver, eight, and Macy, four.
‘My biggest concern was that he wouldn’t want to wear them, as he’s quite a defiant little thing!’
After an ophthalmologist found Harry to be legally blind, Susan consulted a neurologist. Nothing could have prepared her for the devastation that followed.
‘The neurologist did blood tests and came back to us and said: “Harry has Batten disease,”’ she recalls. ‘We’d never even heard of it beforehand.
‘It is a death sentence, but you wouldn’t know there is anything wrong with Harry except that he has trouble seeing. Yet it’s a disease that tears your child apart in front of your eyes.’
Determined to do whatever they can to help their son, Susan and Shawn are about to take their family to the US, where they are hoping Harry will undergo clinical trials for revolutionary gene replacement therapies.
‘We just want to get there as soon as possible while Harry is still well – and we have an appointment with a neurologist already lined up,’ Susan says.
‘The government in Australia really needs to fund more research into this and other rare genetic diseases. It’s so important we raise awareness.’
Susan and Shawn know there is a 25 per cent chance that Oliver and Macy may also have the devastating condition. But for now, they are taking life one day at a time.
Susan says: ‘Putting one foot in front of the other is really the only thing we can do.’
Click here to support Harry’s personal journey to beat this disease.
This article originally appeared in this week’s New Idea – out now.