Mae is a beautiful, caring and creative 8 year old girl who loves dancing, swimming, baking and all things scientific. She has a sister nearly two years older than her.

We first noticed something wasn't quite right with Mae at around 2 years old when she was unable to jump or climb stairs easily as a toddler. Initially we just thought she had muscle weakness and weren't concerned at all. After doing the routine checks with the GP we ended up being referred to a physiotherapist to help develop 'strength' when she was 4 years old. After only 6 weeks the physio rang me to say that she thought I needed to take Mae to a pediatrician to have her assessed; I still, had no idea that anything could be 'wrong' with her. However, after one hour with the doctor, she told me that Mae had a muscle myopia and that she needed to be under the care of a neurologist and a number of other specialist.