I am mother to Amélie, who was diagnosed with Smith-Magenis Syndrome at the age of 3 and who turns 14 this month. We are originally from Canada but have been living in Melbourne, Australia for nearly 12 years.
I am an executive director and vice chair with Smith-Magenis Syndrome Australia, as well as the PRISMS representative for Australia. I also work in IT, in the enterprise sales business solutions space. From a personal perspective, I am a trained classical musician, fanatical foodie, huge outdoors enthusiast, amateur photographer and have a great love of adventure and travel.
As with every SMS family, we have had our bumps along the way and have had to make adjustments to how we originally envisioned our lives playing out. That being said, we have found the journey very rewarding. Amélie has amazed us with what she has accomplished, enriched us with her uncanny sense of humour and brought a deepened perspective to our lives. We have met fantastic people along the way and developed life-long relationships with other families, carers and educators alike. Our lives haven’t stopped with Amélie’s diagnosis of SMS, and like a trouper, she follows us on our travels, leads the way on our hikes/bush walks, competes at the state and national levels in disability winter sport (skiing).
SMS Australia is a not-for-profit organisation and part of the PRISMS international partnership program. The key activities that we drive are:
AWARENESS. Throughout the year, we run a variety of awareness, social and fundraising campaigns in alignment with events such as Rare Disease Day (Feb) and Smith-Magenis Syndrome Day (17th Nov). We support campaign efforts with bodies such as the Genetic Support Network Victoria and Rare Voices Australia. We also raise funds for awareness through sales of merchandise and local community events.
SUPPORT. The majority of the funds raised by Smith-Magenis Syndrome Australia are used to assist organisations, such as Camp Breakaway, who provide SMS-specific programs and services. We also provide a comprehensive listing of support resources on our website.
INFORMATION & EDUATION. A range of articles, literature, and blog posts are regularly communicated and accessible via Facebook and the ‘About’ and ‘News & Articles’ sections of our website. Additionally, we provide every newly diagnosed Australian family with the PRISMS “On the Road to Success with SMS” guidebook.
COMMUNITY. SMS Australia represents a local community of families and their support network. We work with nominated state representatives to encourage networking activities and family connections (e.g. picnics, social events). We facilitate a collaborative platform for families to share their experiences, insights and requests for support.