Who we are...
Smith-Magenis Syndrome Australia is comprised of a small team of Australian parents, with children diagnosed with Smith-Magenis Syndrome (SMS). We have come together with a common desire to drive a greater local Australian awareness, support and a sense of community; enhancing the lives of children with SMS, and their families.
SMS Australia is a registered charity and not-for-profit organisation. Our work includes awareness campaigning, interfacing with the specialist and educational community, facilitating respite camps, disseminating the latest research and guidance, helping families navigate the NDIS and building a strong network of families and support professionals.
Download our SMS Australia Factsheet for more information.
PRISMS INTERNATIONAL PARTNERSHIP PROGRAM
PRISMS, Inc. (www.prisms.org) is the central advocacy, education and support organisation for individuals with Smith-Magenis Syndrome, their families and the processionals who service them. PRISMS also serves as an organisational hub for all international SMS associations and organisations, connecting information, providing collaboration for research, and promoting global awareness through cooperating partners.
Smith-Magenis Syndrome Australia is a member of the PRISMS International Partnership Program. As a member, Smith-Magenis Syndrome Australia along with PRISMS and other international affiliate partners, recognise that SMS is a global public health challenge that affects families around the world. Together our organisations strive to raise awareness of the common issues that people living with SMS and their families face, irrespective of where they live in the world. Global cooperation benefits the entire Smith-Magenis Syndrome community. This partnership lays the groundwork for future joint initiatives and increased transpacific collaboration for the entire SMS community.
Perhaps you are reading these words because someone close to you was recently diagnosed as having Smith-Magenis syndrome (SMS) or perhaps you are a professional working with a person who has SMS. Whatever the reason, we hope it will be a starting point for you to gain local support, a sense of community, along with a better understanding of this complex genetic condition.
WORDS OF COMFORT
As you read through the information available on this website and others, you will learn that children and adults with SMS can pose many developmental and behavioural challenges. Keep in mind that these individuals also have many positive and endearing qualities, and they are well loved by family and friends. Please see the Our Stories section of this site read some words of comfort for parents of newly-diagnosed children.
KEEPING THINGS IN PERSPECTIVE
If you are the parent of a young child with SMS, the diagnosis can seem overwhelming, filling you with uncertainty and dread for the future. You are embarking on a difficult journey, but one that is also rewarding. You will grieve when your child struggles, but you will revel in their accomplishments. You will encounter many difficult times, but also times that are joyful, humourous, and never boring. You may feel intensely isolated – most likely, none of your friends or family members has ever had to face the challenges that SMS and present. Please remember that you are not alone. Many families have walked this road before you, and Smith-Magenis Syndrome Australia, along with organisations like PRISMS, are here to help.
AN INTRODUCTION TO SMITH-MAGENIS SYNDROME
A syndrome is a recognisable pattern of physical, behavioural, and developmental features that occur together in the same person due to a single, underlying cause. Smith-Magenis syndrome (or SMS) is a chromosomal disorder characterised by a recognizable pattern of physical, behavioural, and developmental features. It is caused by a missing piece of genetic material from chromosome 17, referred to as deletion 17p11.2.
Common features include: characteristic, yet subtle, facial appearance, infant feeding problems, low muscle tone, developmental delay, variable levels of intellectual disability, early speech/language delay, middle ear problems, skeletal anomalies and decreased sensitivity to pain. The syndrome also includes a distinct pattern of neurobehavioral features characterized by chronic sleep disturbances, arm hugging/hand squeezing, hyperactivity and attention problems, prolonged tantrums, sudden mood changes and/or explosive outbursts and self-injurious behaviours. For a more complete list of physical, developmental and behavioural characteristics, as listed on the PRISMS website, please click here.
Ann C.M. Smith, MA, DSc (Hon), a genetic counsellor, and Dr. R. Ellen Magenis, a physician and chromosome expert, described the first group of children with this deletion in the 1980’s. Most people with the diagnosis have been identified since 1995 as a result of improved laboratory techniques that allow the accurate detection of this chromosomal deletion. Although the exact incidence is not known, it is estimated that SMS occurs in 1 out of 25,000 births. SMS is under-diagnosed, but as awareness of it increases, the number of people identified grows every year. For more information on how SMS is diagnosed, please click here (PRISMS website).