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. We don't know how much Ruby understands, however we think she understands more than we know; she is just selective on whether she wants to acknowledge or action what we say.

Ruby was a small baby weighing 2.2kg. She struggled feeding and at 3 months old I knew she was different. I was lucky she was my second child so I had the benefit of being able to compare. She missed all her milestones. She couldn't lift her head off the floor or sit until she was around 8 months old, and she was very stiff as a baby and never lay still. She lacked eye contact and interest in toys and things around her. She began displaying tic, or jerk-like behaviours, which we initially thought were seizures until the real seizures commenced around 1 year old. I was told by many medical and therapy professionals she was typical but I knew in my heart she was different… we just had to find and push for answers and be listened to.

Ruby was initially diagnosed with global development delay then eventually (9 months later) a doctor listened and suspected infantile spasms and referred us to a paediatrician who straight away recommended bloods, MRI and EEG to be carried out. The EEG showed abnormal brain activity (no seizures identified), the MRI showed thinning of the corpus callosum but normal brain matter, bloods showed low iron. By 1 year old Ruby was having what we thought were febrile seizures generally linked with a sickness. She didn't have any words, she was nowhere near pulling her self up onto furniture, she wasn't crawling and we still didn't have answers. We were referred to the generics dept. of Western Australia where they conducted the first set of genetic tests which came back normal. They conducted a second set which took 6-8 months to get the results back and this indicated that Ruby had a small deletion of the MEF2C gene and was diagnosed with MEF2C Haploinsufficiency Syndrome and movement disorder.

When reading the MEF2C Haploinsufficiency Syndrome characteristics in a report on 5q14.3 deletions Ruby ticked all of the boxes. It all made sense. We were told she would never walk, talk or live independently by the genetics team, which absolutely broke our hearts. The 51_54del indicates a 4 base deletion (the whole gene consists of 200,723 bases). Although this sounds minimal, it has a significant impact on Ruby's abilities. Since the MEF2C Haploinsufficiency Syndrome diagnosis she continued on to be diagnosed with Autism level 3 and Epilepsy.

Ruby is non-verbal, she requires 100% supervision every second she's awake mainly due to lack of understanding and danger, she is still in nappies and needs assistance bathing and all other self care activities, she is unable to dress herself, she requires assistance eating, she requires assistance walking mainly to navigate slopes, steps and different surfaces, she requires encouragement to engage with children and us as her family, she needs someone to think and make decisions for her. She is ignored by most people and children as they assume that because she doesn't communicate verbally or show interest that she doesn't need it, but she so does you just need to spend time with her for her to let you into Ruby's world.

I am proud to say at 2.5 years old Ruby started to take some steps with the help of Ankle-foot orthoses. She lived in these until she was around 4 where we moved to insoles to support her ankle and flat foot. She now walks and runs (just not in a coordinated way). She communicates via hand guiding and bringing items to you for help. Ruby has been in therapy since she was 6 months-old: weekly occupational therapy, speech therapy and physiotherapy. We are now covered by Perth children's hospital for Neurology and Ophthalmology. NDIS covered us from 1 year old under global developmental delay they provide funds for equipment and assisted technology, therapy and support worker costs. Ruby now attends a special education school in the Northern suburbs of Perth, which she goes to full time now she's in pre primary.

My hopes for Ruby is that she continues to be well supported and live the best life she can, experience things typical kids can without limits and be accepted and loved by everyone around her.