1 child in every 14,000 is born with Sotos Syndrome and yet unlike other rare genetic conditions there has been no formal association in Australia to provide support and increase understanding of this condition.
Our aim as families and advocates of people with Sotos Syndrome is to develop an association that can provide much needed support and education to people with Sotos Syndrome, their families and medical professionals in Australia.
We know firsthand how challenging the journey can be from the point of diagnosis, through development and when seeking guidance from medical professionals who have never encountered Sotos Syndrome.
Due to a lack of awareness, advocacy and available resources it is often it is up to individuals, their families and carers to manage medical requirements and seek support for Sotos Syndrome. Children will often need funding for speech therapy, occupational therapy, physiotherapy, psychology, support at school, mobility assistance, opthamology, a range of medical specialists and respite support…the list goes on and on for some families.
People with Sotos Syndrome are very unique in that often no two people have the same profile and the challenges they face can be wide-ranging. Many people with Sotos Syndrome are diagnosed with additional conditions such as: autism, epilepsy, scoliosis, kidney issues and heart issues.
Only discovered in 1964, Sotos Syndrome was difficult to diagnose until in 2002 a team of Japanese scientists discovered a link between people with Sotos Syndrome and a mutation of the NSD1 gene.
Very few medical research or genetic studies have been carried out in Australia. Many people with Sotos Syndrome are misdiagnosed or diagnosed later in life due to a lack of awareness and the complex presentation of this genetic condition.
All funds raised here will go directly to the association Sotos Syndrome Australasia; all expenditure will be approved by the board members and is intended for:
Thank you so much for taking the time to find out a little more about this rare genetic condition and our Sotos Syndrome Superstars. To become a member of the Sotos Syndrome Association please click here. If you have skills that you would like to volunteer to assist with setting up this vital organization or you would like to know more please contact info@sotos.org.au or visit www.sotos.org.au
You can also find out more by watching this 3min video here
Help support this cause by creating your own 'CrowdRaiser' fundraising page.
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