Cri Du chat is so rare, that once you read this post, you will officially know more than most of the drs and professionals I’ve seen!
Cri Du chat awareness week is coming up soon – May 5th – 12th. I love this week because, as most of you have read on this blog, when Ella was diagnosed I was told so much misinformation that was heartbreaking, and I hate to think that new parents are still being given the outdated information that I was! I love sharing all about Ella and how far she has come.
First of all
– the can’ts –
This is what I call the list of things the ‘experts’ told me Ella would never do, and with a lot of hard work, this list is getting smaller and smaller!
The things that she’s already achieved that they said she’d never do – make eye contact, crawl, walk, jump, and kind of read and write. She can recognize her own name as well as a handful of letters, she can almost write her name with help. And although she’s classified as non verbal, she can count to 5 out loud! As well as verbalize a few words.
My heart melted the first time she said mum at age 2, Although now 5 years later, it’s definitely lost its charm sometimes. (mum mum mum mum mum mum mum mum mum aaaaaaahhhh!!!)
Some simple facts – cri du chat is caused by the (usually) spontaneous deletion of all or part of the P arm of chromosome 5. The smart dudes in white coats decided to cleverly name the syndrome 5 p deletion syndrome. But it’s much more commonly known as cri du chat. Cri du chat means cry of the cat in French, because of the cat sounding cry that they have. (Again, super imaginative)
Most of the time it’s a spontaneous deletion, which means it’s cause by missing information in either the sperm or egg at the moment of conception, nothing done before or during pregnancy could have caused or prevented this. On some occasions it is passed down from a parent, but this is rare.
It’s thought to effect 1 in 50,000 live births. To put that into perspective, if the MCG (Melbourne cricket ground) was full to capacity there might be 2 people with cri du chat. I live in a region of small towns, and I don’t know of any others with CDC living near me. Every health professional I have seen, have either never seen a case, or never even heard of it!
There are some physical characteristics that I should mention.
– wide set eyes (hypertelorism)
– low set ears
– low birth weight
– small jaw
Unfortunately it’s not all rainbows and roses, as children with CDC also have moderate to severe intellectual and physical disability, physical delays. As well as Repetitive and sometimes self-harming behaviours, along with speech delays, with a large portion non verbal, and autistic tendencies, some more severe than others. Early intervention is very important to overcoming as much as they can. I think of Cri Du Chat like a spectrum, every individual with CDC is different and impacted differently, but they all are amazing.
A lot of children with Cri Du Chat have problems eating and gaining weight. There is even a weight chart specific to children with cri du chat! I am luckier than some, Ella was able to eat pureed food from around 7 months, it took her a long time to progress past lumpy purees, but by 3 she was eating some finger food. Even now her food aversions can be a struggle. Sometimes she will completely refuse things she previously loved, which is really frustrating, and sometimes she will refuse to eat at all, having meltdowns not being able to explain why. Ella also doesn’t seem to indicate true hunger or full feelings, so keeping track of how much or how little she eats is important. But I am so thankful she can eat. Although every drs appointment comes with a lecture about gaining weight.
People with CDC are so much more than their diagnosis! Ella amazes me every day with her determination and perseverance. She works hard to be able to reach milestones that can come easy to others and she does it (mostly) with a smile on her face. She is the strongest (and the most frigging stubborn) child I know! Even the fact that she can walk, and now jump (2 feet off the ground!) might not seem like much to others, so much work went into achieving it.
This year I’m also doing something different to raise awareness, I’m participating in the 5 kilometer for 5p- fun run to raise awareness for cri du chat! Which is probably really surprising to people that know me because the only running I normally do is running out of wine! But I have been working really hard the last few months in preparation for this, walking every morning after Ella goes to School.
The run is just like any other 5k (or 3.1 miles) fun run for charity or awareness, except there is no official race location, and no set start time. You get to choose where, who with, and even how you want to go 5ks – Swim, bike, run, roll, walk, it’s all up to you!
The Virtual 5k for 5p- can be done at any time and on any day during Awareness Week. It can even be done in increments throughout the course of the week! I’m doing my 5ks on the 6th of May, hoping to at least jog it, and I’m doing shorter fun run the day before with Ella for as far as we can. (only because she wouldn’t last being pushed in her chair for 5ks!)
If you want to join the fun, (and you totally should!!!) hashtag photos of your run with #5pminus5k #criduchat #irunforella and share along with some facts about CDC that you’ve learnt here, or better yet, researched yourself! 😁 You may think you’re not making a difference doing this but every bit of information put out there, is a chance for people to learn and for new parents to have the right information!
– shameless plug- if you want to sponsor my run, head to the donations link, or Click here – there’s lots if information there too 😃
If you’ve just had a child diagnosed with CDC, and have stumbled onto this blog, don’t hesitate to contact me! It’s a scary time right now, but it will be ok 😁