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. At nine months old, Aubrey was eventually diagnosed with MEF2C Haploinsufficiency Syndrome, a rare genetic condition that presented a myriad of challenges. For Aubrey, this presents as; hypotonia, absence of speech, seizures, intellectual impairment, repetitive movements, sensory processing disorder and cortical visual impairment.

Despite the initial shock of the diagnosis, Aubrey's family rallied around her and began early intervention consisting of weekly speech, physio and occupational therapy. With the help of Aubrey’s grandparents, they also began traveling to the Neurological and Physical Abilitation Centre in Sydney annually for intensive therapy programs.

Though her path diverged from that of her peers, Aubrey is happy and content in her own little world. She enjoys going to the pool, horse riding, watching TV, story books and anything musical, especially the piano and the guitar.

“Despite the twists and turns of life, Aubrey continues to make us proud everyday. It’s hard to watch your child struggle daily with the simplest of things but we try to stay positive, take things slow and celebrate the small wins. We don’t know what life will look like for Aubrey as an adult. For now, we are trying to focus on the present and give her as much support as possible to help her reach her full potential.” Jayne, Aubrey’s Mum.