Claire

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.

Hannah Gutke

P.S. We hope to make more regular updates to Claire’s progress on her temporary web page, which you can find at www.clairematilda.wordpress.com