Queensland, July 2012
Kaylei’s parents share her journey on a Facebook page.
When Kaylei was born on the 09/07/12 she was the most perfect little angel we had ever seen. It was not long however until we realized that she had trouble with her feeding so we remained at the Kyneton Hospital for four days and with the excellent help from the nurses there we had her feeding (not great) well enough for us to take her home.
After 3 months of low weight gain and feeding difficulties, Kaylei was diagnosed as “failure to thrive”. This sounds scarier than what they told us that it was. However the doctor said we best take her into the “Royal Children’s Hospital” (RCH) to be safe. We thought it would be a quick trip into Emergency and then we would be back home. At around 11pm it was evident that we wouldn’t be seen that night. So i went home and Kaylei and Mum (Shae) stayed the night.
The next day Shae called me while i was at work. The doctor had been to see them and mentioned that he thought that her problems may be something to do with chromosome 5. He mentioned that due to her difficulties feeding, her shallow breaths, her small head and her weak “cat like cry” that he thinks she should stay for a bit while they ran some tests.
Being an inquisitive father I Googled chromosome 5 abnormalities; the minute I clicked on a page my heart broke. There it was in big bold letters: Cri du Chat (aka Cats cry syndrome), a rare disorder affecting only 1 in 50,000 births. As I read the symptoms I knew this is what they were looking at. They hadn’t told us exactly what they had thought but I knew. I left work and went straight to the hospital, at this time it was important that i didn’t tell Shae what I had just read as she need to be strong for Kaylei and I needed to be strong for her.
For the next few days Kaylei and Shae remained at the RCH. I came back daily after going to work (my escape from reality). The day came when the Geneticist came to see us and told us what I had already read. They suspected that Kaylei had Cri du Chat Syndrome. They went into detail about what this meant and what her life and ours could be from then on. They needed to wait on some results to confirm the diagnosis but they were pretty sure what the results would say. Kaylei had had some good weight gains while in hospital so her and Shae were sent home.
One very stressful and emotional week later the call we had been dreading came and we were once again asked to make the hour long drive back to the Children’s.
We met up with our Geneticist and she confirmed what they had been thinking. We both immediately broke into tears and I remember Shae being so strong for the two of us, on the inside you could tell she was devastated. The doctor was fantastic – she encouraged us to understand that it was about Kaylei reaching her potential and not being limited by her diagnosis.
We have read many stories where children have been diagnosed with Cri du Chat and the doctors have told them that they would never walk or never talk. Thankfully for us the doctor said that she would never say never and that it was about reaching her potential. These things would be hard but with early intervention and a better understanding of such a rare disorder more and more children are achieving things that they have been told they would never do.
Since that day we have learned so much about the syndrome and found ways in which to deal with the challenges that are coming up on a daily basis. Some days are hard and others easier. With the great support we have around us and the teams of doctors who are assisting us, we are overcoming the challenges and are so proud of every milestone Kaylei achieves.
We love Kaylei with all our hearts and she is still the same little angel that graced our hearts back in July of 2012. We see her the same as any other baby, she just has some obstacles that life will throw at her that most other people will never see.
I have created a Facebook page so people in our position can see our journey and hopefully our story will serve the same purpose that the stories of other kids with the same diagnosis have done for us – To show hope and to help bring awareness to the world about Cri du Chat.