About MEF2C Foundation Australia
MEF2C Foundation Australia is dedicated to raising awareness and supporting research for MEF2C Haploinsufficiency Syndrome (MCHS), a rare genetic disorder that affects the development and function of the brain, and other systems in the body.
The Foundation was started by a group of Brisbane-based parents who, when they received a diagnosis for their child were confused, and did not have the information and support readily available to them to understand MCHS. The Foundation aims to be the first port-of-call for parents and carers of newly diagnosed loved ones, and to help with first steps in what is an overwhelming and difficult time.
Our Mission
The Foundation’s mission is to improve outcomes for individuals with MCHS and their families by increasing awareness of the disorder, supporting families through shared knowledge and community building, and supporting research into MCHS.
If you would like to access a full statement of our charitable purposes, you can view our constitution on the Australia Charities and Not-For-Profits Commission (ACNC) website here.
Our Board
The Foundation's Board of Directors is made up of parents of children with MCHS who are dedicated to making a difference in the lives of those affected by MCHS. As we grow our organisation we will establish a Research Advisory Board to help us direct our energy and resources in the most effective and coordinated way, in partnership with global MEF2C organisations.
MEF2C Foundation Australia Current Directors
Claire Bothwell
Jayne McLachlan
Sean Rafferty
Dean Borg
Our Mefties
We’d love you to meet some individuals in the Australian community affected by MEF2C Haploinsufficiency Syndrome, or as we often call them, our Mefties. If you would like to share your story please get in touch!
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Meet Thea
Thea loves music, books, water play, cuddles and bouncing on the trampoline. She is one of the most happy and easy going kids we know, and takes everything in her stride. When Thea was about 4 months old we noticed that she was not doing things her older siblings did around the same age - she was not interested in toys and was not using the left side of her body.
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Meet Aubrey
Aubrey’s journey with MEF2C Haploinsufficiency Syndrome began unexpectedly when her mother noticed subtle differences between Aubrey and the other babies in their mother's group. While her peers reached developmental milestones with ease, Aubrey seemed to lag behind unable to smile, roll or make eye contact. Concerned by these observations, Aubrey's mother sought the advice of pediatric specialists, embarking on a journey that would redefine their family's path.
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Meet Ruby
Ruby is our ray of sunshine. She's always happy and has so many quirks. She is nearly 6 and is from Perth, Western Australia. Ruby spends a lot of time in Ruby World - sometimes I wish I could join her. She loves music, lights, singing, water, repetitive sounds, lines, things that spin and her iPad. Her laugh is contagious and her smile melts our hearts. She amazes me with the things she learns, which to most people are minor but for us are huge achievements.
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Meet Hamish
Hamish is our oldest child - he just turned 7. He has two sisters, Audrey 5, and Isabelle 3. Hamish loves music - mostly Super Simple songs, Cocomelon and occasionally some classical music. Hamish would listen to music all day every day if we let him!