It’s genetic…

Back when Emily was diagnosed with the Cri Du Chat syndrome, we were told that we needed to be tested as well to determine if we were carriers.

The thing with genetic anomalies is that you can be a carrier and not have any clues that you are!  If whatever piece you are missing is attached to another chromosome, you will be just fine!  You will go your whole life not knowing.

So, once Emily was diagnosed with CDC syndrome, we were explained that she was missing part of the short arm (p) of her 5th chromosome.  Another name for her syndrome is 5p-

With such diagnosis comes more genetic testing but this time for the parents.

Being tested is simple enough, it’s just a little needle for some blood work than it’s waiting time….  that’s the difficult part.

That’s the part when you try to convince yourself that will not blame either you or your spouse for your child’s condition.  To be honest, I was extremely scared of being a carrier and even more scared that my husband was because I wasn’t sure I was a big enough person to not assign blame.  I wasn’t sure my young marriage would survive one of us being a carrier… I was worried about my future, my family, my life…..  That’s a lot of worrying for a 24 year old mom…

We are not carriers…. it was a relief to know this but it was also a really confusing moment for me as I had to learn to live with the fact that somehow, while creating a new life I had lost a tiny piece of chromosome and that tiny piece meant that Emily would forever be struggling …  How did I manage that???

No one knows!

When the genetic counselor told us we were not carrier, they also added that if we decided to have another child, we should contact them and that my pregnancy would be followed closely…  I couldn’t quite understand why they wanted to do that as we were young, healthy and not carriers.  Our odds at the time were estimated at 1:50,000 to have a child with CDC… What were the odds to have a second one with CDC?

But never mind the odds…..  if my baby was tested and had CDC…. what then?

…….

What was the point of this testing?  We would have to decide if we were keeping our baby???  Really???

…….

What an interesting idea…

Were we supposed to test our baby than decide to not continue with the pregnancy should the baby has CDC?

Were we supposed to test our baby than decide to continue the pregnancy…

Did we want to make the decision?

Was there even a decision to be made?

…….

I adore my baby girl with or without her syndrome…  I would not trade her for all the money in the world…  I will give her the best life she could ever have…

How would I live with myself if I decided to terminate a pregnancy because my future baby would be like my first one???  My first one is the love of my life why would the second one be any different?

Why would I be tested if regardless of the test results I would keep my baby?

What was the point?

…….

In the end, we didn’t add to our family… but in the meantime, when considering having another baby we decided that we would not contact the genetic counselor, we would not get tested and whatever happened would be ok with us!

…….

From the outside, it is easy to judge, it is easy to tell someone that to risk having another heavily disabled kid is not a good idea…

From the outside, it looks easy to say that a pregnancy should be stopped…

From the outside, whoever is looking our way knows nothing.  Absolutely NOTHING!!!!

Unless you’ve walked in my shoes, bug off!  Keep your opinions to yourself!

I will never even consider terminating a pregnancy because my next baby could be as extra-ordinary as the first one!

I have to live with myself, how could I justify doing something like this?

……..

Next time you find yourself on the outside looking in, whatever it is you are looking at…… remember that you probably don’t know half of the story so don’t be so quick to judge.  How would you like to be the one being judged?

kisses

Believing is half the battle

October 1999 – Emily is just over 15 months old and we finally have a diagnosis…. She has something called the Cri du Chat syndrome. Back in 1999, there isn’t much of anything out there for us to find information… It is hard to believe that all this was before facebook!

I remember sitting in the genetic counsellor’s office and listening to what our life was going to be….. All the information coming straight from what seem to be a giant book of everything a doctor needs to know….. just between us, I really dislike 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, in a wheelchair, fed by tube…. The “good luck” was not said but we felt it!

I remember telling the genetic counselor that Emily could recognize us, that she recognized voices and that when her dad or I entered a room, she was looking for us. Her head, the only part of her body she seemed to control, would be turning around looking 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!  She also knew her babysitter 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?

I didn’t care what was in that book, I was going to give my child the best life she could ever have and I was going to make sure that she kept recognizing us and that slowly other milestones would be cross off the list…

When you are faced with bad news, what keeps you going?

Emily15mo