People living with Sotos syndrome and their families in Australia have a new source of information and support after a new not-for-profit, Sotos Syndrome Association of Australasia, launched on Global Sotos Syndrome Awareness day last month.
Sotos syndrome is a rare genetic condition that typically comes with some level of developmental delay and overgrowth, meaning a child’s bone age is advanced and they will grow more quickly than other children. The challenges faced by people with Sotos syndrome can be wide-ranging and additional diagnoses including autism, epilepsy, scoliosis, kidney issues and heart issues are also experienced by many.
One 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 awareness and understanding of this condition.
The new organisation is made up of families and advocates of people with Sotos syndrome who know first-hand 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 up to individuals, their families and carers to manage medical requirements and seek support. Children will often need funding for speech therapy, occupational therapy, physiotherapy, psychology, support at school, mobility assistance, ophthalmology, a range of medical specialists and respite support… the list goes on.
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.
To date, 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. Sotos Syndrome Australasia welcomes opportunities to collaborate with medical specialists or students interested in learning more about Sotos syndrome.
They encourage anyone with Sotos syndrome in Australia to become a member of the association. The link is available on their website at www.sotos.org.au.
This is a small volunteer run association so if you are interested in volunteering or would like to make a tax deductible donation please visit their website or contact [email protected]
All funds raised will go directly to the association to assist with establishing and maintaining the association (which is currently based on volunteer support), creating communications materials and hosting events for members within Australia.
All support will help us work towards a brighter future for people with Sotos syndrome in Australia.
Sotos Syndrome Australasia Incorporated is a registered charity with ACNC and is incorporated in Western Australia through DMIRS.