news, health, angelman syndrome
The Dowden household is just like any other with three boys under 10. There’s lots of playing outside, tumbling inside and handmade art plastering the kitchen walls. Unlike most families, the middle child, Sebastian, has a very rare genetic condition known as Angelman syndrome. The deletion of a specific part of the 15th chromosome causes neurological differences in Sebastian’s brain. The seven-year-old struggles with fine motor skills, cannot walk or talk and wakes up frequently through the night. But Sebastian is a happy kid who loves music, swimming, horse riding and going to school at Hughes Primary. He’s expected to live to the average life expectancy and even work unassisted after years of intensive therapy. Angelman syndrome only affects about one in 15,000 people. There are about 500 Australians known to have the disorder and about five others live in Canberra. But there could be many more undiagnosed cases as the signs and symptoms were sometimes mistaken for acute autism, cerebral palsy or global developmental delay. As many as 60 per cent of cases go undiagnosed, meaning there could be 1000 “hidden angels” in Australia not getting the care they needed. Today on International Angelman Day, Paul Dowden hoped to raise the profile of his son’s condition. “What we want to do is just try to encourage people, if they know someone to tell them to go and get tested to find out if they have Angelman syndrome or not. The more people we know who have it, the more we can help them,” he said. Sebastian’s mother, Dr Felicity Williams, suspected her second son was not developing as he should about four months after he was born. As a paediatrician she had a greater understanding of what the diagnosis meant once his genomic testing results came back. READ MORE: But the journey hadn’t been easy. The couple battled to obtain NDIS funding and grappled with complicated logistics on a daily basis, all while holding down full-time jobs at the Canberra Hospital and the Australian National University. Two organisations – Foundation for Angelman Syndrome Therapeutics (FAST) and Angelman Syndrome Association Australia – were focused on the treatment and research into the disease and advocacy and outreach for families affected by it. FAST was focusing on creating a network of clinics across Australia to facilitate clinical trials. With the right resources, a treatment could be in reach within 10 to 15 years. The tight-knit group of families dealing with Angelman syndrome may be scattered around the country but they don’t hesitate to share their experiences with how they overcame certain problems. Dr Williams said Sebastian’s school had been especially supportive of their wishes to keep him in a mainstream environment to build his sense of belonging in the community. “His primary school has been absolutely amazing,” she said. “Being in an inclusive situation will help him reach highest potential he can.”
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The Dowden household is just like any other with three boys under 10. There’s lots of playing outside, tumbling inside and handmade art plastering the kitchen walls.
Unlike most families, the middle child, Sebastian, has a very rare genetic condition known as Angelman syndrome.
The deletion of a specific part of the 15th chromosome causes neurological differences in Sebastian’s brain.
The seven-year-old struggles with fine motor skills, cannot walk or talk and wakes up frequently through the night.
But Sebastian is a happy kid who loves music, swimming, horse riding and going to school at Hughes Primary.
He’s expected to live to the average life expectancy and even work unassisted after years of intensive therapy.
Angelman syndrome only affects about one in 15,000 people. There are about 500 Australians known to have the disorder and about five others live in Canberra.
But there could be many more undiagnosed cases as the signs and symptoms were sometimes mistaken for acute autism, cerebral palsy or global developmental delay.
As many as 60 per cent of cases go undiagnosed, meaning there could be 1000 “hidden angels” in Australia not getting the care they needed.
Today on International Angelman Day, Paul Dowden hoped to raise the profile of his son’s condition.
“What we want to do is just try to encourage people, if they know someone to tell them to go and get tested to find out if they have Angelman syndrome or not. The more people we know who have it, the more we can help them,” he said.
Sebastian’s mother, Dr Felicity Williams, suspected her second son was not developing as he should about four months after he was born. As a paediatrician she had a greater understanding of what the diagnosis meant once his genomic testing results came back.
But the journey hadn’t been easy. The couple battled to obtain NDIS funding and grappled with complicated logistics on a daily basis, all while holding down full-time jobs at the Canberra Hospital and the Australian National University.
Two organisations – Foundation for Angelman Syndrome Therapeutics (FAST) and Angelman Syndrome Association Australia – were focused on the treatment and research into the disease and advocacy and outreach for families affected by it.
FAST was focusing on creating a network of clinics across Australia to facilitate clinical trials. With the right resources, a treatment could be in reach within 10 to 15 years.
The tight-knit group of families dealing with Angelman syndrome may be scattered around the country but they don’t hesitate to share their experiences with how they overcame certain problems.
Dr Williams said Sebastian’s school had been especially supportive of their wishes to keep him in a mainstream environment to build his sense of belonging in the community.
“His primary school has been absolutely amazing,” she said.
“Being in an inclusive situation will help him reach highest potential he can.”
