Lucys' Story
- By Fiona

We have entered the Kabuki world rather later than many of you, with Lucy being diagnosed the week before her 16 th birthday...16 very long , very frustrating years. Having said that, many years ago we accepted that Lucy was Lucy and nothing was ever going to change that so there was no point in continuing to turn ourselves inside trying to find the answers to the seemingly unanswerable.

Lucy was born at term following an uneventful pregnancy which was the result of GIFT via IVF. She had a stridor at birth and was quickly whisked away to special care nursery and diagnosed with moderate to severe laryngomalacia ( floppy larynx) at which point our lives were forever changed – I am sure you all remember “the moment” in your lives.

All of Lucy’s ensuing problems were blamed on this initial condition – poor feeding, failure to thrive, missing
milestones. She was described by one paediatrician as “ a scrawny irritable infant”!! I don’t think we slept at all in those first 12 months poor Lucy screamed her way through it all , day and night and despite being sent to paediatricians and ENT’s we were no closer to any answers. It was obvious to all that she had significant problems and this became more pronounced as she fell further behind her peers. We did start early intervention at 10 months – more due to my background as a physio than anything else although I was in complete denial for a long time.

The list of doctors, symptoms, therapies goes on and on with the only diagnosis being “global developmental
delay”. Genetic tests came up negative, Lucy finally stopped screaming, we spent hours and hours at therapy sessions and I went a little crazy. Against all odds I unexpectedly fell pregnant 3 years later and Madeline was born when Lucy was 4. She proved to be a blessing for us all. I could go on and on about how difficult these years have been but you all know that. We try now to focus on the positives and the joy that Lucy brings to us each day. Someone once described her as sunshine on legs and she is ... she spreads her special Lucy magic every day. The incredible thing is that the one feature people always commented on were her beautiful eye shape and thick eyelashes, and this turned out to be one of the features of Kabuki. Noone
could ever explain why she had autistic behaviours but was most definitely not autistic; her incredible memory for matching games but unable to play ‘go fish’; why
she chewed clothes; her receptive skills being far superior to her expressive skills etc etc.

Last year we were referred by the orthopod who was monitoring her foot defect to a neurologist to investigate
her ‘absences/funny turns’ which were investigated and turned out not to be seizures but he really wanted to find an answer for us and urged us to see a geneticist again. We were half hearted about the appointment as we fully expected it to turn out like all the previous ones.... sorry no answers.

We were shocked when ,within 10 minutes of meeting Dr Michael Gattas in Brisbane, he wrote KABUKI
SYNDROME on a slip of paper and slid it across the table to us saying I think this is what Lucy has......
and that was another defining moment in our lives. 3 months of waiting followed whilst he did more research
and blood tests to exclude some other things and then we got the call for the followup appointment and confirmation.

.

And here we are telling our story, knowing finally that there ARE more Lucy ’s in the world and that we
aren’t alone. Ask Maddy what it’s like to have a disabled sister and her answer is .... I wouldn’t swap her for a normal sister, she is the best sister in the world.