RELATED: Revving up support for Keeley
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VICTORIAN families will come together this month to shine a spotlight on a rare genetic disorder affecting the nervous system.
February 15 marks International Angel Syndrome Day – a day to raise awareness of the condition which causes severe physical and intellectual disability.
People with Angelman Syndrome typically have high support needs, movement and balance problems, complex communication needs with minimal to no verbal language, severe sleep disorder and frequent seizures.
The condition is characterised by laughter, energetic movement, affection and a fascination with water.
Angelman syndrome was given a profile-boost in Bendigo last month through the Central Victoria American Motorcycle Club's Dice Run for Keeley.
More than 100 bike riders, including some from interstate, came together on January 16, to raise funds for the family of Keeley, an 11-year-old who suffers from the condition.
She also suffers from epilepsy and requires a wheelchair on outings.
She is cared for her by mother and older brother, who has muscular distrophy and is confined to a wheelchair.
Children and adults affected by Angelman Syndrome will gather at the Botanic Gardens next Sunday to complete a lap of the famous running track known as 'the Tan'.
Angelman Syndrome Association Australia (ASAA) president Kellie Wild said the 3.8 kilometre distance would be a tremendous challenge and achievement for all.
The association estimates more than 80 per cent of people with the rare genetic condition could be missing out on vital support because of a lack of diagnosis.
It has relaunched its nationwide campaign to find Australia’s 1000 "missing" members of its Angelman community.
Ms Wild, whose 11-year-old daughter has Angelman syndrome, said the condition affected one in 15,000 to 20,000 people in Australia.
“International Angelman Day provides an opportunity to reach out to the community and raise awareness of this rare disease," she said.
"I would like to appeal to those families, friends and service providers who care for someone affected by Angelman Syndrome, to make contact with the association.
"Currently we have around 200 registered members but there must be thousands more.
"For most families the diagnosis comes as a shock and will have life changing consequences, for many this can be a very isolating experience.
"We want to reach out to these families and bring them into our amazingly supportive Angelman community, to share knowledge and experiences, and to provide hope for the future.”
All proceeds from Sunday's event will go to ASAA to support and educate families affected by the disorder in Australia.
To support the cause visit www.angelmansyndrome.org.