Diagnosis, Ella, Special needs parenting

The book

With cri did chat awareness week upon us again!  I’ve written a factual post about cri du chat before here but I wanted to do something different this year.  I wanted to write about the first time I’d heard those words.

Cri did chat…

300390_10150360523152265_779238_nElla was only a couple of weeks old, not feeding properly, not putting on weight, and having trouble keeping her body temperature steady.
I had been in hospital with her for only a few days, readmitted because she just kept losing weight.  I was desperate to breastfeed, the ‘lactavists’ had me convinced if I didn’t breastfeed I was failing my baby.  But it just wasn’t happening.  Despite being on my boob constantly from birth she just kept losing weight.  I had just been told that she was too weak to breastfeed or even bottle feed.  If I attempted to giver her a bottle she would aspirate.  So she had a nasal gastric tube inserted and a dr told me they needed to run some tests to see why she was so weak.  He mentioned genetic testing but they couldn’t give me any answers yet.

312663_10150365184412265_2814098_nI didn’t really understand, what tests? Genetic? I caused it? What tests could there possibly be for feeding troubles? Wouldn’t she just get stronger and everything would be fine?

They didn’t want to tell me anything until I had someone there with me, but I had no one.  My family all lived in different towns, at least half an hour away, and I had no idea where my partner at the time was and he had my phone.  I insisted they tell me, I wasn’t waiting, it had been days and I was getting so frustrated.

The dr left and a different one came back with a book. She explained there was more to it than just feeding. She called Ella ‘floppy’. She was concerned with the way Ella held her hands, that Ella had no startle reflex. All these things were mentioned 2 weeks earlier, at her 48 hour check.  She kept mentioning her ‘cat cry’.

I asked what exactly they were testing for, the Dr handed me the book and I sat down. The big thick book looked like it was at least 30 years old, the dust jacket on it yellowing slightly, the pages looked like they’d been thumbed through for years.  I don’t remember the titles but it was something mundane, white writing on a black background.  She stood in front of me and a said there was a few things they were testing for, she turned to a page, the book still in my lap, a little torn off piece of paper marking it.
I skimmed it, not understanding.  I remember the weight of the book in my lap as well as if it was yesterday, the feeling that this was all much more serious than I imagined.

She turned to another page, again, bookmarked with a small piece of  torn white paper.  Again, she brushed over it.  The third and final piece of torn paper awaited.  She turned to the page.

CRI DU CHAT (CATS CRY SYNDROME) – 5P DELETION.

The dr said nothing and let me read. I felt her eyes on me as I read the ‘features’ of cri du chat.  I looked over at my precious baby Ella sleeping in the humidity crib, a clinical looking clear box encasing her, keeping her warm and protecting her from the world.

2013-06-07T18-12-33_0I looked at her perfectly round face, and her beautiful nose, with its wide bridge, her eyes, set wider apart.  I looked closer at the folds in the corners of her eyes, and I looked at her cute little ear tag, I noticed her tightly held fists.  I thought about all the people that commented on her cry, specifically the woman that poked her head into Ella’s pram when she was just new baby exclaiming “oh, it sounds like you have a cat in there!” Genuinely surprised to see it was my baby instead. I remember thinking she must be crazy, who would push a cat around in a pram?! I recalled all the jokes about how I spent too much time with my cat while I was pregnant because Ella sounds just a cat.  How, without fail, that’s what people commented on first upon hearing her cry.
This heavy medical book, written long before Ella was born, was describing her features perfectly.  The book feeling like it weighs 10 tonne on my lap, to mach the weight I felt in my heart. The pressure in my chest making it hard to breathe.

I knew.

Screenshot_2015-05-08-21-19-59
I knew in that moment why they brushed over the other things they were testing for.
They knew.
I knew.
Ella has cri did chat, this syndrome I couldn’t even pronounce let alone comprehend meant.

I read on, the words so clear on the page, written there in black and white.

Physical delays… Never walk… never make eye contact… never crawl… Non verbal…  Severely disabled…. severe mental retardation…. Shorter life expectancy… 1 in 50,000 life births… spontaneous deletion.
All these words I read over and over, until they were just a jumbled bunch of letters on a page with no meaning I could make sense of, not with this ringing in my ears and pounding in my chest.
I pushed the call button, I told the nurse I was finished with the book, and with 283403_10150328995077265_7260735_ntears streaming down my face I asked if I could hold my baby.  The very fact that I had to ask broke my heart.  The nurse checked Ella’s temp and said I could, so I held her.  I hugged her to my chest just beneath my chin.  I lied down on the fold out couch that would become my bed for the next few weeks and I looked at her sweet sleeping face, stroked her cheek and let my tears fall.  I swear I felt myself break.
No one came into my room for hours.  As hard as it was, I look back on that time and I’m glad.  I’m glad I got to bond with Ella with no one around, feeling like it was me and her alone in the world.  I talked to her, to myself, to a god I don’t even believe in.  I truly understood what love means in that moment because I knew. and I loved her with everything I have anyway.  Whatever the test results brought I knew I would love her.
When Ella stirred I tried breastfeeding again, and when Ella couldn’t breastfeed I called the nurse to heat up some milk for her tube.   she came in with a face of pity.  The first of many I would see.

20150905_125240I’ve described the feeling of grief before Here but that hadn’t hit me yet, what I felt after it all sunk in was fear.  I was afraid.  For what the future held.  I was scared of wheelchairs, and special schools and the unknown.  What was written in that book was terrifying.  as clear as some of it is in my memory, the next few days waiting for the test results are fuzzy.
I think I spent days just crying, feeling numb.  Well meaning people calling and me stumbling over the words
Missing chromosome
Some cat cry thing
Its french
everyone asking what it means, and I wanted to scream “I DON’T KNOW!”

DSCF3157That was almost 8 years ago, and while I’ve cried many tears between now and then, I have to say I’ve been crying tears of joy. 
When Ella first smiled, albeit late, my heart filled with so much joy, and excitement – that book was wrong!
When Ella first started dragging herself around in a sort of awkward army crawl just after her first birthday – That book was wrong!
When Ella took her first assisted steps at 3 years old – That book was wrong!! 
And now, at almost 8 years old, Ella has proven almost all of the predictions for her wrong.
img_20190417_111928.jpgShe can walk, jump, even run. She eats regular food and is almost toilet trained.  She’s an amazing big sister and a great friend.  She’s so social and is the first to go pat her friends on the back if they’re sad.  She can’t talk, but I’ve learned there’s so much more to communication than words.  she can sign, use a communication device, she’ll even get books and point to pictures to get her point across.  She has such a beautiful personality, and she is so much more than that big old medical book predicted.
It’s been a hectic road, one filled with appointments and surgeries, therapy and chaos, but not only that it’s been so rewarding.  it’s been amazing seeing Ella do things that experts have told me she wouldn’t.

It’s because of this that Cri Du Chat awareness week is so damn important.  The information given to parents of a rare diagnosis like Cri Du Chat is so wrong!   People should know what kids like Ella are capable of, and new parents should be told a more realistic outcome – so please share our journey or cri du chat week, It would really make a difference.

2 thoughts on “The book”

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