PROUD dad Mark Robson throws his giggling little girl Skye high in the air to celebrate her first day at the Ballarat Specialist School. But at the same time, he makes a mental note to buy a video camera to make sure he always remembers the five-year-old’s laugh.
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“We have lots of pictures of her, but we don’t want to forget how she smiles and runs around,” Mr Robson said.
Skye – whose second name, Nongaphat, means Angel in Thai – was diagnosed with the fatal degenerative disease Sanfilippo syndrome last year, with her life expectancy now between 12 and 20.
“She went from being a slightly delayed kid to a terminally ill kid in the space of a 30-minute doctor’s appointment. Everything that was meant to be suddenly disappeared – school, sport, friends, university, career,” Mr Robson said.
“One day we’ll wake up and she won’t. We’ll go from being a family of four to a family of three.”
Already, Skye’s development is delayed, which is the syndrome’s first stage, before she moves on to being hyperactive, restless and having only a few hours’ sleep a night. Finally, she will lose all power to speak, move or eat, called the breakdown stage.
But Mr Robson and his wife Daeng refuse to give up hope. Instead, they are asking for it. The Alfredton family has set up the Hope for Skye Campaign through the Sanfilippo Foundation to help finance a clinical gene therapy trial that could help extend their daughter’s life.
“If not, then we hope what we do for Skye now will positively impact on the lives of children in the future and contribute to raising funds to ensure a cure is found. That will be Skye’s legacy,” Mr Robson said.
Sanfillipo syndrome causes fatal brain damage due to an enzyme deficiency that stops the body from going through its natural recycling process.
When Skye was just two, the Robsons noticed the only word she could say consistently was “no”. She also had problems with her two front teeth, which had to be removed. She was referred to a speech therapist.
However, Mrs Robson’s sister died of cancer around this time and she had to return to Thailand to be with family.
“As a result, Skye did not continue the program. At the time, we were still not overly concerned as we were confident she would catch up in her own good time and we could always re-enrol in the program,” Mr Robson said.
Shortly after, he was employed as an economics and accounting teacher at Ballarat Clarendon College, relocating from Melbourne.
Their older child, Luke, began primary school and Skye was enrolled in kindergarten, although she was still in nappies and couldn’t speak many words.
“As time passed, she seemed to stand still while other children around her continued to develop,” Mr Robson said.
Skye was referred to a Ballarat paediatrician, who carried out a range of tests, including an irregular urine test that first hinted at the news to come.
Then, in June last year, while Mr Robson was in Papua New Guinea on a school trip, Mrs Robson, who has had problems with her hearing since Skye’s birth, became deaf.
“She had a cold and blew her nose and her hearing disappeared altogether,” Mr Robson said.
Mrs Robson is now waiting on Cochlear implants, but finds the lack of communication extremely frustrating, especially with Skye.
Three weeks after this incident, Skye’s test results confirmed the paediatrician’s suspicions – she had Sanfilippo syndrome, with only 50 Australians diagnosed with the illness annually.
“Our world came crashing down. We were stunned. We didn’t even consider it. Our worst-case scenario was a mild disability,” Mr Robson said.
“I don’t think it sunk in during that appointment.”
But a trip to the Royal Children’s Hospital’s metabolic clinic confirmed the diagnosis.
“Driving home was horrible, but moping around was not going to help anyone,’’ Mr Robson said.
“We don’t know how long we’ll have her for. There is no pattern to it; it manifests itself differently in each patient.
“But it teaches you a lot about living in the day and living in the moment. If you think about the future, you feel yourself slipping. We’re just focusing on love, happiness and quality of life for her.”
Ballarat Clarendon College has held a Hope for Skye fundraiser and the Robsons’ friends all over the world are helping out the cause.
Anyone wishing to donate to the campaign can go to the hopeforskye.com website and make a donation or organise a fundraiser.
fiona.henderson@fairfaxmedia.com.au