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.

Jason
(Kaylei’s Dad)

Kaylei’s story – updated September 2024

Wow, how time flies. It’s been 12 years since we last updated Kaylei’s story on the website. Reading through her story at 8 months old reminds me of how far we have come.

Kaylei is now 12 years old and about to start her final term of primary school before heading off to high school next year. She is now a big sister to two brothers, aged 8 and 5. She is a wonderful, social, active tween who does all the things I worried she may never do in those early days. To be honest, early on, all I wanted to know was would she walk, and would she be able to tell me about her day after school. She does both of those things and so much more. I often say I wish I had had a crystal ball when she was little, and I would have worried a lot less about what ours and her life would look like.

Over the first years, I spent a lot of time trying to get Kaylei a place in early intervention (pre-NDIS), and a lot of time at therapy appointments. I treated her every waking moment as an opportunity for therapy, it felt like time was of the essence. In hindsight I don’t think it was as critical as I felt to do all the therapy. So much therapy is just playing and chatting and living life. As it turns out, Kaylei is the kind of person who does things when she’s ready. She’s unmotivated, until she’s not.

We went on a holiday to Thailand when Kaylei was 20 months old. At this point, she could army crawl and had been doing that for a few months. She had been sitting since about 10 months old. We came home after our two week holiday and Kaylei instantly started crawling on all fours. Whether it was the sunshine or spending two straight weeks in the pool (unofficial hydrotherapy!?), our girl decided it was time to explore the world. It was at this point that I finally breathed a sigh of relief, I just knew this meant she would walk. It is also at this point that Kaylei seemed to understand she could move her body to get to where she wanted, and she became very interested in the world around her and all the places she could go. When we got back from our trip, Kaylei’s physio also gave her a walker. Neither of us really thought we were at that point yet, but thought why not try. Kaylei took to it instantly. She was pushing it around within a day. When comparing to a typically developing child starting to walk, the process took a while, but when we were living it, it felt so fast. So many milestones. At 2yrs 3mths Kaylei took her first steps unassisted. From there she slowly built. By 2yrs 10mths, Kaylei was walking more than she was crawling – it was at this point we had a walker! The physical milestones continued but this was the big one. We have enjoyed seeing Kaylei run, manage steps, climb playground equipment, and a huge one for us several years ago now – going to the zoo without a pram! I just loved not having to chase Kaylei and lug a pram around!

Kaylei has always been socially motivated and this has helped immensely with her greatest strength – her communication. We started using Key Word Sign (KWS) around Kaylei not long after she was diagnosed. At her first birthday party, she used her first sign – finished. ‘I’m finished eating Mum, stop feeding me!’ – Kaylei grew so slowly that I just kept shovelling in food until she wouldn’t take any more. We used a lot of KWS in the early years and it was Kaylei’s main method of communication until she was about 5yrs old. She got very good at it, and with each new sign she learnt I got a new insight into her clever mind. I remember when we were walking into the fruit shop and she signed ‘dog’, I looked around and sure enough there was a dog. I remember the first time she generalised that sign to refer to ‘animals’ when we were at the Werribee Zoo and she saw the rhinos. She just kept showing us how smart she was. She also knew how to use it to her advantage, signing ‘please’ repeatedly so Granny would buy her a chocolate at the shops. Even now, when she says ‘pleeeeeeaaaaassseeee’ and clasps her hands together she is very hard to say no to! Around the same time that we went to Thailand and Kaylei started crawling, she also started using her voice more purposefully. Convincingly saying Mum was such a special memory. Dad came a little later, and was just as special. Her speech slowly grew from there. By the time Kaylei was in Kinder, we started our journey with her talker (voice output device with LAMP Words for Life software). This came largely from me attending an AGOSCI Conference, where I saw how wonderful a device could be, and where I completely accepted and embraced that it actually didn’t matter how Kaylei communicated, so long as she could communicate. Speech alone wasn’t the goal, and that was ok. Now at 12, Kaylei’s preferred method of communication is speech. She can speak in up to 10 word sentences. I understand most of what she says. The more someone knows Kaylei, the better they understand her speech. And now, after lots of years of practice, we are getting more and more people who don’t know Kaylei easily understanding her speech without me needing to assist. It is so awesome to go out and someone naturally answer Kaylei when she asks ‘What are you doing?’ without any help from me. Kaylei uses her talker really well too, often to tell people pre-programmed stories about what she has been doing. She is in control of what is added to her talker, and often we put her longer, more complex and more difficult to understand stories in there so she has an alternative way to tell people who might get confused when she chats to them. It also helps in busy or loud settings, or when ordering food when out and about. It is also a fantastic way for Kaylei to participate in her learning at school. Kaylei still uses KWS, but it is now always combined with speech. She is a multi-modal communicator and I anticipate she always will be. 

Kaylei’s schooling journey has been an adventure. She went to mainstream kindergarten and unfortunately it was not a positive experience for me, due to the teachers’ deficit-based attitude. However, the other children and other staff made it a great experience for Kaylei, especially one special friend. I had Kaylei enrolled to attend our local mainstream primary school for prep, but our kinder experience gave me cold feet, along with the school principal saying she didn’t think the school was ready to support Kaylei. This was before NDIS, when we didn’t have a team of therapists we could send into the school to assist. I was never a fan of the key-worker model, it did not work well for us. We decided Kaylei would go to special school for prep, who would work with the mainstream school for a transition in Grade 1. Kaylei loved the special school overall. The main downside was that she was on the bus for 3hrs a day, 1.5hrs each way. This was a lot for a tiny little preppie who prior to school, was still having 2hr naps each day. We decided on a dual enrolment for Grade 1 – two days mainstream and three days special school – to see how Kaylei went in each. We continued this into Grade 2, but I was starting to realise we needed to make a choice. Grade 2 happened to be in 2020, and we live on the border of regional and metro Melbourne, so were under different restrictions to one of the school zones. Home learning also helped me see the difficulties Kaylei faced through a dual enrolment – two very different learning styles to adapt to, two different groups of people, and not being seen as a full-time class member by either class – rather as part-time at both places, meaning less sense of belonging. We made the choice to move to full time mainstream schooling for Kaylei and haven’t looked back. It has been wonderful to have her school so close to home, and has ensured she is well known, liked, accepted and included within our fairly small community. It has also meant she gets to go to school with her brother. I remember Halloween when Kaylei was in Grade 1 and now at our local school, walking around the streets and every single child saying ‘Hi Kaylei’ as we passed them. It was the nicest feeling.  Kaylei has loved being part of all the typical school events – school camps, dress up days, fun runs. I would have to say she is one of the most well-known people in the school, since she says hi to everyone she sees. One of my favourite memories was seeing her at school camp having pillow fights and sitting on the top bunk taking selfies with her friends. Don’t get me wrong, this has not been the smoothest journey, and has required a lot of advocating to get things right. Each year is different and brings different successes and different challenges. However, having tried both school systems has shown me that it doesn’t matter where we are, there will always be a need for continued advocacy. Neither school system is designed for Kaylei, neither is an ‘easy option’. This was quite clear when I toured high-schools recently. We have opted to send Kaylei to our local mainstream high-school, which I anticipate will come with many (and probably more) challenges than her primary years, however the school are keen to work collaboratively and I feel that is half the battle won. We hope it will also come with many successes and wonderful moments, just as her primary years have.

We have been very fortunate to live in a small community who are very welcoming and accepting of Kaylei. I still vividly recall the first time I took Kaylei’s walker to Storytime at the Library when she was almost 2, it felt like our coming out moment. I wasn’t sure how people would react. I was pleasantly surprised when several parents came up and said how amazingly Kaylei was doing. It was as if the walker did the opposite to what I had expected, and acted as a conversation starter about Kaylei’s disability. Over the years I have found fluctuations with peer responses to Kaylei, and although most have always been positive anyway, I would say as she got older her peers became better and better at understanding Kaylei, her extra support needs, and her communication. For most of primary school Kaylei has had a ‘welcoming committee’ of friends greeting her at the car each morning.  Peer relationships do appear to have become more challenging and complicated as Kaylei reaches the end of primary school, which although difficult for us as parents to see, and navigate, it is quite typical for all girls her age, and so we take some comfort in this being a ‘typical’ milestone.

As parents, our single greatest resource and ‘place’ where we have felt most at home, has been with other parents of people with Cri-du-Chat syndrome. Initially we were a little hesitant to join the group, and waited until Kaylei was 8 months old (5 months after her diagnosis). We were warmly welcomed in the Facebook group and around Kaylei’s 1^stbirthday we met a group of parents. It was such an indescribable feeling, they had lived our story and every emotion we had had over the past year, they had experienced themselves and completely understood where we were at. It wasn’t until just before our trip to Thailand, when Kaylei was about 19-20 months old, that we first met other people with Cri-du-Chat syndrome at a Victorian family school holiday catch-up. I remember being really nervous – this was the first time we would see first-hand what our future might look like. Then on the morning of the catch-up it hit me – we have already met someone with Cri-du-Chat, we live with her! Suddenly I was far less nervous! It ended up being such a wonderful day and made me feel much more OK about everything. I am glad we waited until we did, when we had a better understanding of Kaylei’s abilities and didn’t sit for too long comparing her to others. Since that visit we have really prioritised going to the school holiday catch-ups. When Kaylei was 10, she became aware of her disability, and these catch-ups have now become even more important as she values her friendships with others ‘just like her’ so much. We have also got so much out of the biennial family conferences. We attended our first one when Kaylei was 3 and haven’t looked back. We have enjoyed trips to SeaWorld, Lake Macquarie and Kyneton, and look forward to the next one in 2025. We have made friends from all across Australia, and just as with that very first meeting in 2013, there is still nothing quite like connecting with other families. The group is so important to us that Jason (Kaylei’s Dad) has been a Board Member of the Cri-du-Chat Support Group of Australia for a few years, and has arranged annual corporate fundraising events for about the past 5 years to help fund the family conferences.

So, how are we all going now that Kaylei is 12?  There is no doubt that Kaylei having Cri-du-Chat syndrome has dramatically impacted hers and our lives. She faces many challenges in life that I wish she didn’t have to. The blessing is that she doesn’t view the challenges she faces negatively, and is so insanely proud of her disability. She asks everyone she meets if they have a disability, and is clearly disappointed for people who answer ‘no’. She has a knack for spotting others with a disability and will make a bee-line for them and introduce herself and ask their name (and of course what their disability is!). She is the most social person I know. She says hi to everyone she walks past, and can start up a conversation with anyone. Her favourite thing in the world is dressed up characters and mascots. She asked for a visit from Baymax (a huge white inflatable robot from the movie Big Hero 6) for her 12^th birthday, so we bought a huge inflatable Baymax costume and Baymax came for a visit. She was so excited she didn’t know what to do with herself. She is very tactile and sensory and loves to carry around little fidgets. She loves watching TV, and cooks us dinner one night a week with her support worker. We go on family holidays and getaways often, including camping, which I honestly never thought would be possible but it certainly is. A big achievement personally was being able to go on family bike-rides, another thing I didn’t think would be possible, however we found the perfect bike for Kaylei and I. She absolutely loves travelling so fast. She is a passenger and in true Kaylei fashion after an 8km bike ride, she said her legs were ‘so so tired’. She makes us laugh everyday. We have significantly reduced the amount of face-to-face therapy we do in comparison to the early years. This suits our family needs. Kaylei is great at avoiding hard work and has developed many evasive techniques (starting a conversation is a favourite!) so instead of scheduled therapy we imbed it into our daily life through home therapy programs developed by her therapists. We have been fortunate to have had the same speech pathologist and physiotherapist for the past 8 and 10 years respectively. I have learnt there is a range in quality of specialists, and area of expertise is very important, and we have found some absolute gems through our connections with other Cri-du-Chat parents. It is hard to find someone who has worked with others with Cri-du-Chat syndrome because it is so rare, and it is quite amazing hearing a therapist talk about the syndrome with knowledge of the behavioural quirks and how they interact with therapy goals. Jason works full time, and I work a 3 day fortnight. I do find there is a bit of ‘admin’ that goes alongside Kaylei’s needs. Kaylei loves swimming and does her hydro sessions at the pool at the same time as her brothers do their lessons. She enjoys coming along to her brothers’ extra-curricular activities and these opportunities just grow her sense of belonging in our community.

I think you can tell Cri-du-Chat is a big part of our life. I don’t expect we will ever forget the initial shock we felt when Kaylei was first diagnosed, and the time that followed. We have held on to those early connections that helped us so much, and still help us to this day. We have gained so much from having those words I never thought I’d remember, let alone be able to pronounce – Cri-du-Chat – become part of our lives. When Kaylei was a baby I read the family stories over and over, I still remember them all now. We hope our story will give new members some comfort in what lies ahead. What I will say is that everything will be ok. Regardless of your child’s abilities, it will be ok and you will have a wonderful life together. We look forward to connecting with new families when you are ready, and we hope this group is able to provide you the support it has us.