Your generosity

We have repeatedly been overwhelmed by the generosity of our friends, family and complete strangers as we have shared Claire’s story.

While I was pregnant, close friends chipped in to shout Matt and me a night out, with the offer of babysitting included. We had friends and family look after Callum while we attended appointments. Our families forfeited Christmas gifts to assist in covering Claire’s medical expenses. In our time staying at Ronald McDonald House, my sister made and delivered us meals. Our first three weeks home from hospital were made so much easier by the daily delivery of home-cooked treats from my work colleagues, many of whom were not at that time ‘in the loop’ with why this support was so valued by our family. After Claire’s first hospital stay in December, we again were supported with meals made by friends. To be honest, I never knew people liked us so much! Or, maybe they just think I’m a really bad cook. 😛

When my cousin, Jess, suggested that her group, Charity’s Angels Brisbane, would like to produce a recipe collection to raise money for Claire’s ongoing expenses, we were again totally overwhelmed.  The enthusiasm with which family and friends approached the task of sharing their recipes was fantastic, and Mum and Dad did a great job of putting together the final product. The book sales again demonstrated how generous people really can be. It was wonderful to be able to share the success of this with the Cri du Chat Support Group of Australia with a donation of almost $2000.

We have created Claire’s Sunshine Butterflies individual fundraising page in response to family and friends suggestions that they would like to help. Donations through this link are tax deductible, and funds are only able to be accessed to directly pay invoices for Claire’s therapy, equipment and other related expenses.

Like any parent, we want the best for our children. We want Claire to have access to the best early intervention programs and equipment available and we believe that for her to have the best start to life, it is important for her to have access to her parents as well. This of course, all comes at a cost. It is frustrating that Government funded programs and support are so limited for Claire and other children with rare conditions or no specified diagnosis. It is exhausting enough trying to navigate a new world of having a child with a disability. Having to battle to access services and lobby against unjust government initiatives (such as the Better Start for Children with a Disability Initiative) makes life just so much more difficult and exhausting.

Still, we do what we can to provide Claire with the therapies and equipment that she needs. Currently, Claire attends physiotherapy, hydrotherapy, conductive education, speech therapy, and music therapy, and we hope to begin ABA therapy in the new year. Some provision is made through our private health insurance for these services, but we still estimate that we will be about $10000 out of pocket each year if we are to provide the early intervention programs that we feel will best prepare Claire for her future. Claire’s therapists have also suggested that orthotics, a standing frame, a special needs stroller, and a walker are pieces of equipment that she could benefit from in the next 18 months. This equipment totals in excess of  $10000.

The most recent generosity that we have experienced has been from The Saltbar Beach Bar and Bistro, in Salt Village, Kingscliff. This group have offered to organise, host, and sponsor a fundraising lunch for Claire on a Friday in February and we have graciously accepted. Event details will be finalised within the fortnight, once guest speakers can be announced. What we do know, is that tickets will include a full seafood buffet and three hour drinks package, along with entertainment. We would absolutely LOVE to fill tables to capacity of 300 supporters.

If you are able to help with this event in any way or know of someone who may be able to help, please contact us at clairematilda@me.com or email the Raygroup Marketing Manager, Katrina Dudley. We are looking for financial sponsorship, donations of raffle and auction items, and advertising. We would also welcome assistance in approaching local businesses for support as the details become clearer. If you could PLEASE spread the word about this event and encourage people to purchase a table at the event or individual tickets we would be significantly grateful. We know that this is an amazing opportunity and we intend to give 200% to support the Saltbar in organising an event that will be one to remember.

We are so very proud that the gift of one little girl has already had such an impact on our lives and the lives of so many others. The fact that she incites so much generosity is only more proof that she is exactly who she was meant to be and sure, she may be tiny, but she’s already having such a big impact on the world! The thought that people want to help our precious Claire makes us so very grateful and we just feel so blessed to be her parents.

Thank you so much for your continued support.

Letting the cat out of the bag

We are not ‘cat people’. In fact, we really don’t like cats. Mostly, because our experience of cats has been neighbours’ pets pooping in our sandpit, in our gardens, and under our clothesline.  Or cat fur on our clothes after visiting friends.

The first attempt at a diagnosis that we were given by doctors during the pregnancy was cerebellar hypoplasia, which I think in essence is still true as from my understanding, this just means that the cerebellum (part of the brain, responsible for balance) did not develop accurately. When we searched the Internet for information on cerebellar hypoplasia, we found video footage of cats falling over. Apparently, cerebellar hypoplasia is common in cats, and it causes balance problems.

When Claire was born, the first sound she made, after a moment of worrying silence, was just like a cat. I’m not just saying that. She actually meowed. I asked my sister recently if my memory of this was jaded – had I imagined it to be so cat-like only after we had her diagnosis? She says not. We all heard the distinctive cry.

This continued during our time in the hospital. Nurses in the NICU commented, “She sounds just like a little kitten”. Visitors said the same. I knew about Cri du Chat Syndrome and secretly cringed every time we heard that comment. If it wasn’t CDCS, it still wasn’t a good sign. Claire didn’t sound like a regular baby.

Claire still has a very quiet cry. Don’t get me wrong, this has its advantages, and I honestly find crying babies quite annoying these days! Callum covers his ears and gives a look of disgust when our friends’ babies cry full force. We just aren’t used to it. My mum commented one day that our house was ‘eerily quiet for a house with a newborn’. It was true!

Sometimes Claire’s quiet cry can be really problematic. At home, we can barely hear her awake if we are in the lounge room, if the TV is on at even the slightest volume. I have had occasions where we have been out, and Claire has gotten very agitated, but people around don’t get that she is upset as she isn’t screeching from the rooftops. This is really stressful as a mum and one of my biggest anxieties surrounding leaving her in the care of anyone else. Most recently Claire has decided to combat this lack of sound, by holding her breath and turning blue in order to gain our attention. A great party trick that scares her parents, but also anyone else who is around to witness it (I’m really not selling this babysitting thing am I!! ;)).

A new friend I made whose daughter has Angelman’s Syndrome wrote on her Facebook status about the difficulties of having an ‘angel’ in the house while trying to pack for a move. It sounded so sweet, and made me ponder whether saying I had a cat or a kitten around would have the same impact. Maybe to a cat-lover…but not to me!!

A lesson I have learnt above any other this year is that you look for the good in everything. These days, when I mention that Claire has Cri du Chat Syndrome, I’ll often add that it means “Cry of the Cat” in French, and that it is called this because her larynx is affected by the syndrome and speech can be difficult. I even mention the little cry. I’ve learnt that is sticks. I’ve swung around from shying away from CDCS being associated with cats, to embracing the fact that this is a great memory trigger and that it raises awareness. People remember enough to be able to further research it when they are next at their desk, and that has got to be good.

So, now when I recognise familiar doctors and nurses at the hospitals and clinics I remind them that they have met Claire before by reminding them of the ‘cry of the cat’. It works. One smug know-it-all nurse will never forget about Cri du Chat after she looked the chart over quickly and acted as if she knew all about “Ducati Syndrome” (having not read the ‘cri’ on the previous line). No, she sounds like a cat, not a motorbike.

Some support groups around the world have chosen to embrace the image of a cat in their logo. While some may feel this is offensive, and it isn’t particularly to my taste, I do believe that they have successfully incorporated a memory trigger that if nothing else, will cause people to wonder about the significance of this imagery.

I still hate cats pooping in our sandpit. I’m still not a fan of cat fur. But, I must say, that I am beginning to find kittens a little bit cute. Or maybe just our kitten 😉

I must add here a really bizarre truth. Remember that Claire was named while I was pregnant, and in fact, her first name was the name we had picked for Callum had he been a little girl. I popped Claire Gutke into the wordsmith.org anagram server one day…..rearrange the letters of her name and 772 anagrams are found…and the first one is…. I’ll let you find that out for yourself 😉

D-Day: Part 2

I really did start to write this last night as promised, but was distracted by old emails. Very distracted!

I was blown away by the response to my blog post yesterday. The ‘doom’ of D-Day hovered a little around me for the day, but when I reminded myself of how grateful I am to have Claire’s diagnosis (yes, it was my 365 Grateful today in case you missed it), things were much better. I also know how much we have all achieved in just one short year, and that in itself brings a feeling of accomplishment.  A friend calling to sing “Happy D-Day to you”, also really lightened the mood and brought laughter into my day.

Yep, I survived this year. All the work I have done with beginning teachers has really paid off! I knew what I needed to do to best stay afloat. I accessed mentors, made connections and created an amazing network of supporters. I have honestly made so many new friends this year, and I have cherished the opportunities to chat via Facebook, Skype, phone and over an actual, real-life coffee (lol) with so many other parents who have experiences with Cri du Chat Syndrome.

I have initiated and executed with the help of some friends and family the development of the new Cri du Chat Support Group of Australia website. I have written letters to Members of Parliament. I have hosted an event raising awareness of the National Disability Insurance Scheme. I have organised a family day for Cri du Chat affected families. I have begun to learn Makaton/Key Word Sign. I have met inspirational people. I have made some really amazing new friends. I have had my eyes opened to a whole new world, and I am trying to open the eyes of others who may not be directly affected by disability, but could find themselves there at any time.

Saying “Cri du Chat” a year ago, was difficult. It turned my stomach. But now, it just rolls off the tongue. Several times a day. Cri du Chat Syndrome has enriched my life. Strange, but true.

The first time I shared that sentence, “Claire has Cri du Chat”, it felt awful. It felt to me at that moment like an admission of failure, or of defeat, and the beginning of another really tiring time of having to share the news and add the pain and disappointment of our friends and family to that which I was already feeling myself.

We’d been through this already, on a smaller scale, when we told close friends and families of Claire’s developmental complications. Then, only nine days before this diagnosis, we were ecstatic to be able to share the news of her safe arrival. Now, we had to do it all again, but this time, it was a definite diagnosis, and one that we knew would eventually become evident to most people we knew and would meet. We would have to share this news eventually.

It took a few days but we eventually sent our texts and emails to friends and family, after telling our immediate families over the phone and in person.

Hi. We unexpectedly got chromosome results back on Wednesday.
Claire is missing a large piece of chromosome five.
Cri du Chat Syndrome or Cat’s cry syndrome.
She will have significant developmental delays
both physically and intellectually.
However her life expectancy is good and we are
determined that she will be the most amazing little girl ever to have this syndrome.
We love her to bits already and she is exactly as she was meant to be.
Think potential, not limitations 🙂

We are still in shock and have only just started to tell people.
Again, please keep us in your thoughts and prayers.

We were being ‘chipper’. Fake it til you make it! Keeping it together as best we could. I only want Claire to be surrounded by positive people who can envisage what an incredible little girl she is going to be. I lack patience and tolerance for the looks of pity. Especially a year on, because we have come to realise that life is wonderful. Our family is wonderful. Sure, we go to a lot of therapy and appointments, but we also do everything we did before Claire arrived, but now probably appreciate each day more than we ever did before. So please don’t show me sympathy. DO show me empathy – the long days of therapy and travel, the unexpected expenses, the exhaustion from advocating for better services, the loss of an image of a child that will probably never be – all difficulties we face as Claire’s parents. But know, that a year on, I feel more fulfilled by my family than I ever imagined I could. I love my husband, my son, and my daughter so much that some days I think my heart just might burst.

PS. Regarding the text message we sent, I said significant delays as that was what we were told by our pediatrician. But Claire is developing so well and making significant progress..We also have been able to gather so much evidence of children with Cri du Chat Syndrome who are really exceeding these outdated expectations. People with Cri du Chat Syndrome have a range of abilities, physically and cognitively. With extensive early intervention, it has been proven, but not strongly enough documented, that our kids can achieve almost anything. I still want Claire to be the most amazing little girl to ever have this syndrome, but I am rooting for ALL kids with CDCS now!!  Please help to promote awareness of CDCS so that funding might be made available to support these children and further research about this disorder. Please tell people about Claire!

PPS. She really is just PERFECT!!

D-Day: Part 1

Today is D-Day. Diagnosis Day. On this day last year, we were given the news that our beautiful, perfect baby girl had a rare genetic disorder called Cri Du Chat Syndrome. I have actually been dreading this day for a while, wondering how I might feel about it, and what memories might be brought to the surface. Particularly after I found the month leading up to The Bear’s birthday quite confronting. Anxiety would kick in whenever I reflected on what it was like waiting for her arrival, not knowing what might happen at or after her delivery, and secretly being terrified that things might not turn out ‘fine’ as I had predicted to everyone who had continued to offer their prayers, support and concern regarding her delayed development in utero.

Now we are here. One year on. A friend who is only a little way ahead of us in this journey with CDC told me that things all seemed quite different after that first birthday, and I think she may be right. It is bizarre that one day can seem like such a milestone, and an imaginary hurdle has been leapt.

But I knew I had D-Day coming up. A visit to the very same pediatrician today who had given us ‘the news’ was a fairly vivid reminder.

9 days old

When Matt and I took Claire to meet and greet our Gold Coast pediatrician for the first time on November 17^th last year, we were blissfully unaware that something was about to change. Had we known that the results from the blood tests were already in, we most likely wouldn’t have taken Callum with us, particularly when he had missed his nap and was only 9 days into having a new baby sister, only 4 days into having her at home. He was off the wall! Thinking back now, the distraction of his tantrums until the doctor straightened the collectibles in his cupboard was possibly a welcome distraction for a while J.

The minute we walked into our doctor’s office, we knew the results were in. I knew that it was a chromosomal abnormality, and when I looked more closely at the doctor’s face, I knew it was Cri du Chat. I asked him each of those questions, and he nodded, and I started to tear up.  I think I just squeezed Claire a little tighter…

What I said next really bothered me for some time after. It seemed so shallow and I couldn’t believe that it was the first thing that came to mind…”There’s ‘a look’ isn’t there?”. I can only share this now as I know that other parents of kids with special needs have commented to me about this very thought. I know I’m not alone, and I also realise it was not a selfish comment, but a selfless one. Through all of this, all I have ever wanted is for Claire to have quality of life and for her to be loved and adored, not just by us (unconditional and undeniable of course!), but by others. I don’t want anyone to be afraid of her, and I know that difference equals fear to so many.

The work of people like Rick Guidotti from Positive Exposure encourages celebration of diversity and uniqueness. For his work, I really am grateful (and I can’t wait to see the pictures he took of Claire last month on his visit to Brisbane!). I’m not going to lie, at times, it would be nice for Claire to ‘blend in’. Some days I just don’t have the energy to talk to random people about why she is so small, why she is doing some of the things she does and not doing others, and how on earth we ‘do it’ (?!), but I can say that more often than not, I am happy to talk about her condition, to spread awareness and to harness support. We know that we are all going to need it.

Claire’s pediatrician talked to us for a while about the severity of Claire’s disorder, the large size of the deletion (part of chromosome 5 randomly deleted at conception), and some of the things we might expect from Claire now and into the future. It was pretty harrowing stuff, but we took in what we could and I started Googling the minute we were out the door.

The Wikipedia information that came up was awful. Poor prognosis and images that were quite frightening to parents whose beautiful little girl had just been labeled. It was annoying that Cri Du Chat (cree doo shah) was tricky to pronounce. I hated saying it, and this was compounded by the risk of sounding like an idiot and getting the pronunciation wrong. I just didn’t want to say it anyway. Matt and I talked for a while, decided neither of us had the energy to tell anyone else at that time, to deal with the new pity party, or to feel like we had to make it ok for everyone else… and then I felt numb. In fact, I feel it now, just remembering the day.

A few hours later, I called my sister, Jane who was out to coffee with a friend. I asked her to call me when she got home, but she knew something was up and wouldn’t let me go. I had to say it for the first time…”Claire has Cri du Chat”. Oh how we cried…

Happy Birthday, Baby Girl!

Today, The Bear turned one.

We have had a wonderful few days of celebrating with family and friends. Claire has received some lovely gifts and we are very appreciative, but it has been the words of support and encouragement for which we are most thankful. Not just today, but all year. We are truly blessed to have such amazing people in our lives.

This slideshow requires JavaScript.

After our weekend celebrations, and then the ‘gala’ Teddy Bear’s Picnic today, I am too exhausted to write much, except for…

 Happy Birthday, beautiful girl!!

Words are not enough. I am so grateful to have you in my life.

Love Mummy xox

365 Pinches, 365 Gratefuls

Off to induction

Can you believe that in less than a week, Claire will be turning 1? This time last year, I was not convinced that this celebration would be happening. Claire’s official due date had come and gone, and while I was very anxious to meet her, and to hold her, and to move on from Ronald McDonald House where we awaited her arrival for three weeks, I was also so very comfortable carrying her inside me where I knew she was safe. I told everyone that things were going to be ok, but inside I was a nervous wreck. I had no idea how this was going to unfold, and I hated that I had no control over what the outcome might be.

After following Claire’s delayed brain development closely from the 20th week of our pregnancy, doctors had speculated that Claire’s diagnosis might be Pontocerebellar Hypoplasia (PCH), more specifically a type which had less than 20 reported cases worldwide. How on earth they ever thought it acceptable to diagnose this with the limited knowledge that they had of Claire and her development, I will never know. What I do know, is that as awful as it was to be given that news, I truly believe that it made receiving the diagnosis of Cri Du Chat Syndrome much less shocking.

My baby girl is going to LIVE. And she is going to live life to HER full. We are going to make sure of it. Claire will be one on November 8th. She has just decided that rolling is a great way to get around, she is clapping on command, she is communicating with sign. Her name was a perfect choice: Claire – clear, bright – the light of our lives. Matilda – strong fighter – chosen once we learned of her health issues in utero. Just like her brother, Claire is perfect. My heart could explode with the love I feel for these two wondrous little people.

Claire turning 1 is an amazing celebration for us all. Every day since her birth, I have pinched myself. Claire is here, she is amazing, and already she is so much more than I had even imagined she would be. She has brought us all so much joy and has really and truly opened my eyes and my heart, helping me to appreciate life in a whole new way. To honour Claire, and to ensure I really do remember and continue to believe how truly grateful I really am, I have decided to take part in a 365 Grateful Project (originally inspired by Hailey Bartholemew), beginning on Claire’s birthday. I will take a photo each day, and perhaps tag it with a sentence or two, of something for which I am truly grateful.

To simplify this project for myself, I have downloaded an app for my iPhone: Project 365. You could just as simply write in a diary, or in a notebook. This is an invitation for you to join me; as a gift to Claire, to celebrate her wonder, but most importantly as a gift to yourself. I am really excited about how this might enhance my life.

PS. A friend reminded me that next year is a leap year, so my 366th grateful will probably be that I get an extra day!