Queensland, November 2010
Update: November 2019
Claire turns 9 this week, and as the CDC website gets a face lift, I was asked to look over the content. What a lovely way to reflect on years gone by, and how I felt about our life with CDC at different points in time. What an awful way to get a feeling of guilt about not updating our family story since Claire turned 4!
I want new families to take this not as a sign that I have fallen off the side of the planet, but as reassurance that life goes on, in wonderful and incredible directions you never thought possible.
Since my last update, Claire has been at school. Her year of kindergarten in an inclusive setting was the experience we needed to kick start our journey into inclusive education. We started Claire at our local state school and moved Callum there shortly after. This year is their last year at primary school together as she completes year 3 and he completes year 6, and is off to high school. I look forward to them being back at the same school together for high school when she starts there in 2023.
On the day Claire started school, I applied for a job. I was successful with my application and have been working for the department of education as an advisory visiting teacher for students with physical disabilities, ever since. It certainly wasn’t where I expected my career to go, but working with schools and families to support inclusion of students with disabilities has been both rewarding as an educator and empowering as a parent. In the last two years I have also completed additional postgraduate studies to support my work, but most importantly to develop my capacity to best support Claire.
Claire has made huge achievements in all areas since I last wrote. The biggest area of growth, and where we have placed our energy for the last two years, has been in her ability to communicate. It seems that speech will be fairly elusive for our girl, but with some focussed attention to the development of her communication through Augmentative and Alternative Communication (AAC), we are well on our way to Claire being autonomous in her communication.
Claire uses a PODD book, via partner-assisted scanning, and a Tobii eye gaze system. This has been completely life-changing for us all. Claire has learnt the power of communication, and has been able to really shine and show us her personality through access to these tools. She’s still quite emergent in her communication journey, but I feel I now have direction and I’m determined to keep building on her capacity to communicate effectively.
Her journey with AAC in a significant way has aligned with our access to the National Disability Insurance Scheme. This has also been of great benefit to Claire, allowing her to access the therapies and equipment she has needed to live her best life. We are into our third plan, and have been grateful for the positive experiences we have had. It has been exhausting revisiting our needs each year, but so worthwhile for Claire as things have changed and we have advocated for her to access great supports.
Our family has enjoyed connections at all the family weekends since the initial event in 2013. We have enjoyed the opportunity to travel to Melbourne and Newcastle for the family conferences, and have made a holiday out of it each time, visiting parts of Australia that we haven’t seen before. Each time we have gathered energy from those who share our experiences, and have been grateful to connect with friends new and old at wonderfully organised events that have been great for us all.
Claire still loves water, music, and movement. Her taste in music is quite age-appropriate, with Taylor Swift being top of her list for song selections. This year she’s started to show an interest in ‘pretending’, most recently dressing up.
Her birthday party this year will be held at our local indoor trampoline park. Claire will love her friends bouncing her, showering her with attention, and most of all singing her the happy birthday song. She’s lucky to have such beautiful friends, and they are just as lucky to have her.
Cri du Chat, and the support group are still a big part of our lives, but the words no longer bring sadness, or wholeness, to this journey. It’s a small part of a full life that we share together as a family. One that I feel lucky to be living, and amazed at what adventures have ensued, and the friendships we have made, following one tiny deletion… our one in 50000 chance… our Claire Matilda, who we’d be lost without.
Update: November 2014
Yes, it’s true. Claire Matilda is now four years old. In some ways, those four years seem to have flown by in the blink of an eye, but when I stop for a minute to consider the changes in our lives since her arrival, it can feel like almost three times as long has passed!
Yesterday we had a pediatrician appointment at the hospital, and we had to wait. A really long time. I got to thinking about how many precious hours I must have wasted in waiting rooms, or travelling to and from appointments, and I was super frustrated at this. However, we are four years into this journey, and prior to the diagnosis of Cri du Chat, we were wondering whether this (or less) may be all we would get with Claire. When I think of that, I realise that even for the waiting, I am grateful.
Claire has been attending our local Early Childhood Development Program this year, and she enjoys it very much. Mid-year, she stepped up from one day a week, to three days a fortnight. We are also accessing In-Home Day Care (available nationally) which allows us to have a carer providing day care in our own house one day a week. She is beautiful and Claire loves her to bits. With this initiative, we are eligible for the CCR and CCB rebates we would receive in a regular day care centre. Despite the cost being much higher than a centre, this set up has worked effectively for us this year and might be something other families would like to consider.
Claire is still using her walking frame, though still with significant support. She is climbing up to the coffee table very regularly! She can four-point crawl, but has mastered a bunny hop that does well in getting her from place to place quickly.
Claire continues to use some signs to communicate, and has picked up some more sounds and words. “Oooooo-kay!” is used often and sounds like music to my ears I also realised recently that “haaaaanku” is her version of thank you. What a polite little girl we have!
One new thing Claire has absolutely loved this year has been rebound therapy and kindergym at the local Gymnastics club. Going ‘bouncy bouncy’ is a highlight of her week! She also enjoys ‘bouncy bouncy’ at home with her brother in the backyard.
Callum is still doing great things with Claire and we are really proud of his efforts as a big brother. At 6 now (almost 7), this has probably been his first year of really commenting on Claire’s unique traits. I remember being really concerned about how he might feel about this, but he truly just loves her to bits. He comments how lucky he is to have her as a sister, but I’m also very keen to encourage him to share his frustrations when things don’t go as planned due to this uniqueness. I’ve been reading “Siblings” by Kate Strohm of Siblings Australia, and while in many ways this is uplifting, it has also been heartbreaking as a mum to think about how some of Claire’s additional needs may make Callum feel. It’s a very tricky balancing act.
In May this year, we were fortunate enough to attend a workshop in Melbourne organised by the Cri du Chat Support Group. The three days away from home was a first for Matt and me, and that in itself was well worth it! Dr Chris Oliver spoke at the workshop, as did Dr Sue Green, and both of their presentations were positive and beneficial for our family.
Chris’ presentation lead us down a new path with Claire, exploring what we then recognised as possible indicators of pain. We sought the help of a gastroenterologist, who did some exploratory surgery and biopsies of Claire’s esophagus and stomach, confirming that she had a high level of white blood cells present in her esophagus – eosinophilic esophagitis (EoE). She is currently being treated with topical steroids, with a follow up scheduled soon. We also will likely look at further allergy testing for Claire to possibly determine a specific cause.
This year, Claire moved into a ‘big girl bed’ with ease. We were really excited with how happy she was about having the extra space to roll about during her sleeps, and her room is fairly bare, so that when she does venture out, it’s no big deal. We found a second hand pink car bed – perfect for our girl who just loves going in the car, and who uses that word frequently.
I had a fun night away with some CDC mums in Brisbane in July, and then made a quick trip to Melbourne for the CDC Support Group AGM in August. Without the support group, I really think at times I would be completely lost. We are now trying to work out how we may manage to get Matt to the father’s weekend planned for March 2015 near Melbourne. And of course, I’m getting my head around the next Family Weekend, scheduled for September 2015 at the Gold Coast. How great it will be to meet with friends old and new. There have been lots of new connections since this time last year, and I hope that these families are gaining comfort and encouragement from the family stories, as we did when Claire was first diagnosed.
I find birthday and Christmas shopping quite challenging now, but a new gym ball for big bounces, a homemade water table (clever Daddy!), and a piano play mat were some of the items that delighted Claire on her fourth birthday last week. We are considering a karaoke machine or a microphone for Christmas to help her amplify her own voice, but beyond that, I have no ideas!
Each year certainly brings its own challenges, but I think that for me I am now more determined than ever to embrace the journey and to try to get our family back into ‘it’s groove’. Claire is forever a gift and a blessing. I’m tired from the day to day slog, but I am truly encouraged by how happy our little girl is, and how we are able to share this joy and experience as a family.
Update: November 2013
One, Two, THREE!
This week, our little Princess Claire turns 3. We can hardly remember a time before she was in our lives. We have continued the Facebook sharing of her journey, and love that through this page we have connected with and supported another new Australian family. Unfortunately, my blogging has become something on my growing to-do lists, but maybe this year I will get back to it. It is great to have a record to go back to, to be able to see how far Claire has come.
Our cheeky girl is becoming more mobile all the time, and has started to climb up onto the couch, and to pull herself up onto people and other furniture. Claire has recently taken ownership of a Crocodile Walker, thanks to the Queensland Government CAEATI funding. This has allowed Claire to get out and about in our local community, playing in parks and walking Callum in and out of school most days. She loves attending a local playgroup in a hall, where she is able to really get on the move! Claire is showing an interest in getting in to her walker, indicating to me that she would like me to take it our of the boot of the car when we pull up at school and other places. It is wonderful to see her enjoying being mobile, and to see her have some independence, albeit very limited still.
In May, Claire had grommets put in, and her tonsils and adenoids removed. Since this time, her hearing has noticeably improved, and her vocalisations and attempts at words have become much louder and clearer. Claire uses a handful of words to get her meaning across, and responds to communication (eg. replies ‘hello’ and ‘bye bye’, repeats words like ‘milk’, ‘up’). We love that she asks to go in the ‘car’ regularly now, and it is adorable when she answers “What’s your name?” with “Claire Bear!”. “Rabbit” is another current favourite, (when she is being cheeky!) and we will have a rabbit themed birthday celebration for Claire this week.
The surgery in May seemed to have an added benefit, with Claire no longer needing reflux medication. Her appetite improved immensely after this time, and though she has slowed down a little again now, I am much happier with her daily intake of foods, both in terms of variety and quantity. A recent intensive therapy course had Claire working on the goal of self-feeding with a spoon, and drinking from an open cup. It is really pleasing to see her progress in this area. Our three year old is starting to do such ‘big girl’ things.
One on the highlights of our year was hosting the Cri du Chat Conference and Family Weekend on the Gold Coast in March. We had 32 families at Sea World, and it was a joyous celebration of our connection through Cri du Chat Syndrome. Meeting families in person, many of whom I had been in contact with online for sometime, was a wonderful opportunity. It was really sad to say goodbye to many new friends, and I look forward to future opportunities to get together again. My biggest learning from the weekend was that while all of our CDC kids and adults have similarities, they are such different people with individual personalities, and each of those in attendance were very much a part of their own family – you could see how they fit in with their parents and siblings and that was beautiful.
A few months ago, we moved from the Gold Coast to Toowoomba, where we are closer to family and old friends. Having additional support has been a great blessing, and we look forward to more people getting to be involved in Claire’s journey on a more regular basis. Therapists and activities to assist Claire’s development are all coming together, with playgroup at the ECDP at a local state school being a weekly highlight.
Turning three is another wonderful milestone, and maybe Claire will realise the fuss is all about her on Friday when she gets to open presents and have people sing to her. She’s not a baby anymore, but still looks so little and it is easy for her to be perceived as one. Sharing that she is three with strangers and new people we meet is no doubt going to surprise many people. I find though that being open and willing to talk about Claire and her condition (when I feel able) has helped to breakdown barriers, making it OK to talk about genetic differences and disabilities, and hopefully taking the fear factor out of it for those who may not have had experience with disability before. Of course, there are some days when I just wish people would ping off and mind their own business!! BUT, Claire is such an amazing little blessing that we are so proud to be parents to and we feel so lucky to have, that most times I want to share her with the world. I mean, who wouldn’t want to know everything about her?
Happy birthday, Claire Bear. We love you so much!
UPDATE: November 2012
Claire is now TWO!
With Claire’s birthday having recently passed, I felt it was time to write a short update on her current abilities. We adore this beautiful little girl and our lives have been enriched so much by her being in it. She has brought us a better understanding of determination and hard work through her own example. She has also taught us all to have more patience and to celebrate the little things in life.
Physically Claire is sitting for longer of periods of time independently. She has recently begun to crawl, which is really exciting. While she started up on all fours, within the space of a day, the awkwardness of this movement gave way to ‘commando style’, but she certainly makes her way about. Claire has a new-found independence now that she is able to access more areas, and enjoys being able to crawl in and out of her ball pit, and choosing new toys to play with from the low shelves we have strategically positioned. We have also been practising standing in the Jenx Monkey Stander we were fortunate to get for her, and she likes to stand at the couch with support, looking like a ‘big girl’, standing up tall. Much of Claire’s physical development has been enhanced through physiotherapy, hydrotherapy and weekly sessions at Conductive Education Queensland.
Claire is vocalising much more these days, and is making some consistent sounds and attempts at words. She has said ‘up’, ‘mum’, ‘more’, and ‘ball’ among others, but her favourite words are definitely ‘bath’ and ‘brother’ (or an attempt at it anyway!). She loves screeching out for Callum and signing for him too. It has been a wonderful thing to see their relationship develop over the past few months as Claire has become more interactive, and he has learnt to slow down a little to give her time to communicate. We are fairly confident that he is still quite oblivious to most differences between Claire and other two-year-olds, and we are happy for this to continue as long as possible.
Claire has continued to develop her repertoire of signs, with most of her consistent signs relating to song choices. We go to music therapy twice most weeks, and she absolutely adores her therapist, her friends and the songs that we all get to sing. Without a doubt, much of Claire’s improved communication skills have derived from these sessions, along with regular speech therapy to enhance her vocalisations and assist in extending her ability to tolerate textured foods.
That brings me to her eating habits, or lack thereof! Claire is drinking a fortified prescription formula to increase her calorie intake. She has an aversion to many textures and refuses to eat many things. We continue to persist and she has good days and bad, but her size is indicative of the lack of food intake at times. Claire still weighs around 8.5 kilograms, somewhere she has hovered now for many months. Still, as she is developing so well and making continued improvements, Claire’s pediatrician and the dieticians who monitor her growth are not too concerned. The anxiety for her parents that comes with the refusal to eat is certainly not as significant as it was in the early days, but I would be lying to say that I am happy with the amount of food and drink she takes in on most days. Force-feeding her is no use, as she has an impeccable gag reflex and is not afraid to use it!
One of the highlights of the past year for me has been the opportunity to raise the profile of Cri du Chat Syndrome a little more, with the help of our growing community of supporters. I have had the privilege of contact with many families affected by Cri du Chat Syndrome, and am very excited about the National Conference and Family Weekend that will take place on the Gold Coast in March, 2013. I already call many of these families my friends, but look forward to meeting those in person who we have not yet had the chance to meet. With over 25 families registered, the organisation has been a lot of work, but I am sure that the efforts will be rewarded soon enough. We are really looking forward to time spent with others who experience many of the same challenges as our family.
We have continued to send time with James and his family, and since I last wrote we have connected with two other Australian families with young daughters, one a month older than Claire, and another about ten months younger. It with a mixture of excitement and empathy that we have greeted these new families. It is so easy to put myself in their shoes and imagine parts of their early journey that could never be easy for any family to face.
Claire’s personality is becoming much more evident. She is a tolerant little girl who takes most things in her stride. She can be very ‘chilled’, but also gets very excited and shows her wide smile and deliciously infectious giggle. She has been a quiet little girl, but now that she is finding her voice, I think we may start to hear more of her J.
I have continued to update Claire’s progress semi-regularly at www.clairematilda.wordpress.com, and also through our Facebook Page, Community of Claire Matilda. We welcome other families to connect with us and to share our journey. Through this, we have already found everything to be so much easier than it might have been, and we are thankful for the work of the founders of the Cri du Chat Support Group of Australia, and for those who have connected with this group.
Claire at 11 months: Sharing Our Story
Writing Claire’s story has been really difficult for me. While she is now eleven months old, and we have fallen into somewhat of a pattern and routine, it is when I attempt to tell the story that I realise that I am still just beginning to navigate this new journey. I feel it is important for me to share our story so far and to let people know we exist, so that the next new parents who come to the site for support can see that there are others at the beginning of their journey also.
We found out when I was 20 weeks pregnant that Claire’s brain development was severely delayed. We did not have an amniocentesis, but did have other non-invasive testing (MRIs, echo of heart, regular scans) which gave us numerous possible outcomes for the pregnancy, including suggestions that our little girl might not have been carried to term, or may not have come home from hospital at all. So while we were still reeling at her diagnosis on day 9, we were so very thankful to have our precious girl with us and had already been aware that our life may have been significantly changed by her arrival. Having a ‘name’ for Claire’s syndrome allowed us to access support and information in Australia and worldwide as soon as we were ready, and for that I am truly grateful.
Claire’s kitten cry at her delivery, once she eventually made a noise, was quite unsettling. I was aware of the syndrome, having read a novel many years ago in which a character is thought to have Cri du Chat (The Lollipop Shoes by Joanne Harris). I also believe that I perhaps came across the name during the extensive searching I had done on the internet for months prior to Claire’s arrival, looking for anything that could be linked with a small cerebellum. My sister was present at Claire’s birth too, and when she heard the cry, she was immediately reminded of a student she had taught almost twenty years earlier who had Cri du Chat Syndrome. I googled again, and in my heart I hoped that I was over-reacting and over-analysing the situation.
Almost every nurse and visitor to the hospital commented on how much Claire sounded like a cat, making us cringe, but they were all obviously unaware of the syndrome itself. The pediatrician dismissed our suspicions of CDC initially – Claire didn’t have a high palate and was able to breastfeed after only a few hours. She was having a lot of trouble with secretions and bore the widely spaced eyes, epicanthic folds, and low set, folded ears, hinting at a chromosomal abnormality, but to be honest, we were just over the moon that she was breathing and feeding, and that we were able to take her home after only five days. We were still holding on to the hope that the tests would come back ok; that the brain development had ‘caught up’ and things were going to be ‘normal’. Life was normal. The genetic testing was done from the cord blood and we were told we’d have a few weeks wait, and I was so happy to just be able to enjoy those days with our ‘normal’ baby at home.
The results came back earlier than expected, on the morning of our scheduled appointment with our Gold Coast pediatrician (who happens to be a geneticist), Dr. Stephen Withers. When he told us he had the results, he gave me a strange look. I knew. And he knew I knew. Then it was said. Ouch. My normal baby was now a baby with a diagnosis, and I will be forever grateful for those few days with her where she was just Claire Matilda to everyone, not just to us.
So now Claire was diagnosed with Cri du Chat. It was so difficult to share that news with our friends and families and to have to constantly think about how that made everyone else feel. It was also such a celebration for everyone that she was going to be ‘ok’. It really was the beginning of the next chapter.
Claire had two small holes in her heart that had closed over by the time she was eight months. Her hearing and sight appear to be good. As an infant, her breathing was quite shallow and alarmingly (heart-wrenchingly) noisy at times, particularly when she was relaxed or sleeping. She was diagnosed with laryngomalacia and reflux at two months. She wasn’t a huge vomiter, but the breathing began to get worse and she was a fussy eater. The medication for the reflux (Losec/Omeprazole) has helped significantly with her feeding and her breathing.
Claire’s tiny jaw and low tone made breastfeeding a challenge, and her weight gain was slow. At three months, I reluctantly weaned her to bottled formula, which did nothing to improve the speed of her weight gain or to make feeding easier. We tried several formulas and all of them resulted in problems with constipation, something that had never been an issue prior to stopping the breastfeeding.
At five months old, to the amazement (and possibly bewilderment!) of many, I managed to relactate and Claire breastfed and was supplemented with expressed milk and some formula for the next few months. If nothing else, I felt that I was doing my all to help boost her immunity and to reduce the discomfort caused by her constipation. Claire is now on a prescription formula (Nutricia by Infatrini) that is high in calories. She is a good eater of solids most days and is just now progressing to lumpier textures. She is still our tiny girl, weighing in at 6.5 kilograms recently. This really worries most health professionals, but we have spoken to so many families around the world whose children with CDC seem to follow the same path. The CDCS Growth Charts helped to give us a more realistic point of reference, although Claire managed at times to fall off the bottom end of those too.
Claire’s physical development has been delayed, but she is making constant progress and we are so very proud of her achievements. She spent six weeks in a Von Rosen Splint (‘the baby cage’), due to having two ‘clicky’/dislocatable hips at birth. While I felt that that time was never going to end, I forgot to include it in my story until I was reminded by my mother – such a big thing then, has become a distant memory less than a year later. Claire is beginning to sit unsupported, rolls (mostly to avoid being on her tummy!), claps her hands on command and for attention, blows raspberries, and gives the most divine giggles when we tickle her feet, head and tummy. I am really amazed at how well she is already picking up signing – drink, more, food (give me!). I now don’t feel like such a twit for starting to sign with her from just a few months old.
Claire loves her Mummy and Daddy, but lately has begun to develop a wonderful relationship with her big brother, Callum (3.5 years). She adores him and he is currently the recipient of the biggest grins and giggles, and the firmest cuddles, which is just so wonderful for us to see.
The stories of other families on the support group site have really helped me to understand more about Cri du Chat Syndrome. While hours have been spent researching the syndrome on the net and trying to make sense of the medical information while coming from a non-medical background, it is the family stories that give the real picture of what life might be like for Claire and for us all. These stories gave me hope in the first few weeks after diagnosis, when I was still finding it hard to speak the words ‘Cri du Chat’ and I was most certainly unable to take the step to make that initial contact with anyone.
I feel very fortunate that we are beginning our journey in a time when social networking is so easy. Not only have I been blessed with wonderful new friends in the local area, I have also been able to connect with people all over the world. We have met in person with 12 families already, and I’ve Skyped and chatted with numerous others. While being connected might not be for everyone, and is also not something I have felt up to every day this year, it is great to have created a network that I know I can call upon when I need support or advice. I have also enjoyed being able to support newer families (though none yet in Australia…) by sharing our experiences.
While this is certainly not what I had expected in life, nothing ever really is that way and I am now focusing on what Matt and I can do to best support Claire, Callum and each other, and on the excitement of who we will meet and what we will experience now as a result of being Claire’s family.
P.S. We hope to make more regular updates to Claire’s progress at www.clairematilda.wordpress.com