Our Story

Before Grace was born we were made aware things were not quite right. We were told to prepare that she most likely had Downs Syndrome. Once she was born, there was some sense of relief, that she did not, in fact, have Down’s Syndrome. However any sense of relief was short lived, as it was clear her developmental issues were not as easily recognised. This began a search that would go on until she received her formal diagnosis of MED13L by a team of Geneticists in December of 2021. So for the best part of 20 years we have gone from Doctor to Doctor trying to understand the best way of supporting Grace. After being told she would likely never walk or never talk, we decided to get to work. In between hospital stays for operations related to her respiratory issues, we set up a regimen of speech therapy, occupational therapy and anything else that we thought might help. After a few years she began her little bottom shuffle to get around and started to find the strength and co-ordination to start making some steps with the aid of a walker. About age 8 she was able to take some steps without her walker. There were many sleepless hours holding her propped up to sleep, to prevent her aspirating into her lungs. A number of eye operations helped to straighten her eyes and improve her vision due to strabismus. Now at age 21, she can eat with some assistance and food preparation. She is learning to recognise some words, with repetition. She can talk so that immediate family can understand. She can walk a little before she tires and needs her chair “wheelie” or her mobility scooter “scootie.” She loves her support dog Skye, named after one of her favourite shows “Paw Patrol.” And she loves her IPad and especially playing Minecraft. She has made a lot of progress over the years, but of course, as you all know, there’s a long way to go. She is very happy and never complains. She is responding nicely to equine therapy. However social skills still challenge her, as she would much rather be at home with her puppy and her IPad. Toileting is still a challenge as is self care and mobility in general. We are keeping a close eye on her shakiness and hand motor skills as there are still ongoing concerns there. Grace has an able bodied older Brother age 28 and his 2 children are able bodied. Grace’s niece and nephew.