Sotos Syndrome Conference 2015

Hi! My name is Ali and I’m on a mission to raise enough money to help Australian families that are affected by Sotos Syndrome to be able to go to the Sotos Syndrome Conference that is held one a year in the USA. In 2015 the conference venue will be Disney World in Florida!

For Australian families the costs associated with a trip of this magnitude are quite often out of their reach. In Australia very little is known about Sotos Syndrome and there is no support association for people with the condition, their families or friends. The SSSA Conference offers 3 of the world’s top specialists and allows the people, families and friends of those effected by Sotos Syndrome to connect, share experiences and learn the latest information from the experts.

I am one Australian that is affected by this rare genetic condition. My parents were told that I would never be able to have a proper job or even be able to drive a car but I proved them all wrong! I work in childcare, am currently studying for my Certificate 3 in Aged Care and I have my driver’s license!

So what is Sotos Syndrome? Sotos Syndrome is a rare genetic condition that affects approximately 1 in 14,000 people. It is a type of gigantism and is caused by either a deletion or duplication of the NSD1 gene which is located on chromosome 5. Sotos Syndrome is usually a sporadic occurrence, meaning that it is not inherited. However, if either parent has Sotos Syndrome they have a 50% of passing the condition on to their children. By raising money to help people like myself achieve this once in a lifetime trip and attend the conference, you will help them to learn more about the condition and what treatments and therapies help best.

Children with Sotos Syndrome usually have accelerated growth during the toddler and childhood years but by the time they reach adulthood their height is at the upper end of the ‘normal’ spectrum. Key diagnostic characteristics for Sotos Syndrome include a rather large head circumference, a slight slant to eyes, a very prominent pointed chin, and being large (tall) in stature. Issues that are often associated with Sotos Syndrome include developmental delay, behavioural problems, poor social skills, delayed speech, poor fine and gross motor skills and medical problems such as heart and kidney defects and scoliosis (curvature of the spine). Most children with Sotos Syndrome will go through years of occupational therapy, physiotherapy and speech therapy, not to mention all the other tests and scans used to diagnose the condition and treat the symptoms.

If you would like to learn more about Sotos Syndrome please check out the website http://sotossyndrome.org

Even if all you do is read this page, I hope it encourages you to research Sotos Syndrome yourself and become aware of this rare condition. Help us to build awareness in Australia so that maybe one day we will be able our own conference.