The day I got her diagnosis

I still remember it like it happened yesterday, we walked into the NICU like we have everyday for the past few weeks.  We washed our hands and chatted like we always did always wondering, hmmm who’s Ellie’s nurse today, I wonder if she had a good night?. We walked over to Ellie’s crib and then the nurse came over, she said the doctor wanted to talk to us . I instantly knew it had to do with her genetics blood test….finally a answer!, so we waited in the parents lounge , the doctor came in with a piece of paper .

She started out telling us her blood tests came back from Halifax, then she said your daughter has  cri du chat syndrome, she then went on to explain its caused by a deletion of part of the 5th chromosome, it gets its name from the infants cry . Remember when I mentioned before Ellies cry sounded like a kitten.? well this explained why. The last time a baby was born in the hospital in Fredericton with Cri du chat was 12 years ago!

When I walked out of the room and went to Ellie’s crib i just looked at her, my poor baby has a syndrome. I’m still not sure if I was relieved or heartbroken that there was actually something wrong with her. I did blame myself on various occasions thinking I did something wrong , even though the genetics doctor assured me it had nothing to do with anything I would of done.

So of course i googled it, then I was shocked, you always end up reading the bad and ugly on the internet, I was scared, I cried, I didn’t know how we would do it, but here we are 6 months later and I honestly couldn’t imagine Ellie being any other way then how she is, I truly believe everything happens for a reason, Ellie has seriously made me a new person, I absolutely love teaching people about her syndrome , I want to spread awareness about Cri du chat!( check out this website!  http://www.fivepminus.org/ )

Now I don’t think about Ellie having a “syndrome” shes Ellie, she’s our angel. Everyone that has ever met her they instantly fall in love with her. Her laugh and smile just makes my heart melt, the way she watches her big brother  and smiles at him, the way she looks at her dad when he walks into the room honestly makes me beam with love. Ellie is Ellie, shes not the baby with Cri du chat, she may have a feeding tube and she may not be doing things like typical babies do at her age, but i’m proud of her accomplishments already , she has already put the statistics to shame on some things and I know she will with other things when she is ready to do so.