Smiley Girl
Abbie showed normal development until she was 6 months old. She laughed at 6 weeks, held her head up, rolled over, reached out and grasped for toys, hugged her favourite pink dolly, and was a very content, placid and happy, giggly girl
4 months old and rolling around!
Sitting up and eating chocolate 9 months old!
But then from about 8 months we began to notice small things. It took Abbie 8 ½ months to sit up un-aided and by now we could see that she wasn’t making any attempts to stand. Hand dexterity was diminishing. She would swipe or pat at things but never point to press buttons and her ‘pincer movement’ and grasping were very weak.
She never started to babble, or make mama, dada, baba sounds.
Feeding was becoming an issue in that she couldn’t cope with lumpy foods tailored to her age. Drinking from a cup or spout was impossible and all fluids had to be given in a teat bottle.
Crawling finally came at 16 months but by then we had asked that she be referred to a paediatrician.
Initially Abbie was diagnosed with Global Developmental Delay as she wasn’t meeting her milestones. When she lost the purposeful use of her hands (lost the pincer movement, couldn’t grasp things without involuntarily letting go) and began a hand wringing motion that later turned into a ‘mouthing’ motion, the genetic test for Rett syndrome was suggested. We went home, looked up this unknown condition, promptly shut the laptop and hoped it wasn’t so. Eight agonising weeks later we got the news we were dreading “Abbie has Rett syndrome due to a spontaneous genetic mutation…and as yet there is no cure.”
That was in May 2014. Abbie has come a long way since then. Medical experts believe we will still see progression in Abbie and she will continue to gain new skills.
Abbie is still crawling, and we are thankful every day that she is mobile as it keeps other health issues at bay. Through her daily physio exercises our goal is to get her up on her feet- and we will! It may take time, as walking is a new skill she needs to learn, rather than one she had before Rett ‘kicked in’. There is a good chance that she will walk at around 4 – 5 years old but it is far from guaranteed.
But we believe we will do it!!!!
Her communicating skills are becoming more obvious. We understand her ‘yes’ - a look and an excited laugh; her ‘no’ - no eye contact and no emotion. She can make a choice between two objects by eye-pointing - staring at the desired object or picture (though some days she doesn’t want to cooperate!!!).
We continue to gather the evidence which we need to demonstrate that Abbie has the ability to benefit from Eye Gaze technology.
Happy Girl
