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!

  • 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.

  • 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.

  • 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.

  • 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!