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How we reacted to Emily’s devastating diagnosis

Emily15mo

October 1999

Emily was just over 15 months old when we finally received her diagnosis.

Our daughter has  Cri du Chat syndrome

We learned about Emily’s diagnosis a week before meeting with the genetic team.

Back in 1999, our internet was painfully slow and  there wasn’t much information available.  What we managed to find was depressing and seemed outdated.

I remember sitting in comfy couches in the genetic counselor’s office.  Emily in her car seat on the floor, she was facing us as we were listening to what our life was going to be.

The genetic student sitting across from us looked our age or maybe even younger than us. She regurgitated information she was reading in the giant book of everything a doctor needs to know.

Over the years I’ve developed a strong “disliked” of that book.

Your daughter will never walk, talk, recognize you, understand you or show emotions.  She will be fed by tube as she will not be able to eat enough to grow properly. Your child will be in her own world.

I remember telling them that Emily knew us and recognized our voices.  When her dad or I entered a room and talked to her, she was looking for us. Her head, the only part of her body she could control, would move slightly as she looked for us. She didn’t do that for strangers.

The answer from the genetic counselor was harsh.

You want to believe she is recognizing you but in reality she isn’t… your daughter can’t do that.

It wasn’t my imagination!

She knew us and she loved us, in her own way!

Over the days, weeks, months and years following her diagnosis, I held on tight to the fact that Emily could recognized us!

If she could do that, what else would she be able to do?

💜💜💜💜💜💜💜💜💜💜💜💜💜💜💜

  • We didn’t plan to lose a small piece of the short arm (p) of our baby’s 5th chromosome.
  • We never thought that she would be 1 of 50,000 born with Cri du Chat syndrome.
  • We didn’t imagine that we would be the ones teaching the medical professionals around us about Cri du Chat Syndrome.

Jonathan and I tackled this journey with outdated information and without a support system.  We loved our daughter and we were going to give her the best life we could!  We took a day off from work every single time we needed to see a specialist and we saw many. We had 1 hour of Occupational Therapy and 1 hour of Physiotherapy per month.  We lived far away from our family and had no relief available.  We were Emily’s and each other’s only support system.

We were and still are Emily’s biggest fans!

This was the beginning of our Journey navigating through our new Cri du Chat syndrome reality…

❤️❤️❤️❤️❤️❤️❤️❤️❤️❤️❤️❤️❤️❤️❤️❤️❤️❤️❤️❤️❤️❤️❤️❤️❤️❤️❤️❤️❤️❤️

Lessons from my daughter is on :

Facebook: Lessons from my daughter

Twitter at @plebrass

Pinterest too: Lessons from my Daughter

Emily has a her own page in the family stories , you can find it here: Emily

Find more about about Cri du Chat syndrome at 5p- Society

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9 thoughts on “How we reacted to Emily’s devastating diagnosis

  1. I wanted my way here through your comment on another blog and I’m so glad to have met you! It’s wonderful to see you support your daughter and each other through this journey! God bless! Lots of love and luck to you…. Do stop by my blog if you get the time to… I’ve got some anecdotes from my everyday life 🙂 cheers

  2. i cannot even begin to imagine the roller coaster of intense emotions you must have felt, and continue to feel as emily comes into her own and develops into a lovely young lady –

    • It feels like this was back in another life time when I look at Emily now. I cried so much and wanted to scream at all the doctors there that my girl knew me. I’ve always said that the up side of her late diagnosis was us knowing “her” by the time we learned about Cri du Chat syndrome. We had a chance to meet her first.

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