Raising awareness!

Early May 2013

In the spirit of the 2nd annual Cri Du Chat Awareness week, I did something I never thought I would do…… Actually, I always figured it would be pointless to do…… I sent a letter to the Director of Medical Genetics, McGill University health centre / Montreal Children Hospital. I wanted him to know what happened when Emily was diagnosed.

I have removed the names from my original email as I didn’t ask permission to use them.

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Good afternoon Dr. xxx,

I am hoping this email finds you well and that you will allow me to have your full attention for maybe 10 minutes.

In October 1999, our daughter Emily was diagnosed with the Cri Du Chat syndrome. At the time, we lived in Mont-Tremblant, Qc and Emily was followed at the Montreal Children’s hospital. Dr. xxx was her neurologist and thanks to all the test she had ordered for Emily, we finally knew.

During our meeting with the Genetic resident and her student ( I am sorry, I am sure I am using the wrong terminology…) we were told that Emily would never walk, talk, recognize us, show emotions or feed herself. We were told to expect that our child would be in a wheelchair, fed by tube in her own world… At no point were we told that this was worst case scenario… when I mentioned that our 15 months old daughter recognized voices and smiled at us but not at strangers, I was blankly told that this was my imagination, that our daughter did not recognize us. In the month following Emily’s diagnosis, I called the clinic inquiring about various component of her diagnosis, I was labeled the mom who went on the internet a lot…. I can live with that! I am sure I have been called worst over the years of advocating for my daughter…

Today, Emily is a lovely 14 year old girl, she is nowhere near her classmates in school knowledge but she walks (with a walker at 3 and independently at 4). She is toilet trained (took us 9 years but we got there). She is bilingual… understands English and French but tends to answers in English first. Her voice is different than the other kids but most people understands around 80% of what she says, for those lucky enough to spend lots of time with her, they understand her 100%. She is tall, 5’7” and her weight is proportional to her height (120 lbs or so). She is stunningly beautiful in her own way. I have attached a picture for you to see her! Every time we get to see a new doctor, they have their big book open and they are expecting worst case scenario, they are quite surprise when she walks in.

The picture attached was taken in Bermuda last fall. Emily travels with us, we’ve seen lots of amazing places together and we will continue to do so. She is curious about art, loves to try different food (she loves sushis), has an amazing imagination and struggles in math. She wants to be better at reading so she works with a tutor on her math and as a reward, she gets the equivalent time to work with a tutor on her reading…

May 5th to 11th is the 2nd annual Cri Du chat awareness week! As you now know, Emily has the cri du chat syndrome and this brings me to the you tube video attached. The video was developed for the awareness week and Emily is in it… 🙂

Considering that the stats now say that 1:35,000 newborn will have the Cri Du Chat syndrome, the likeliness to meet one while walking around is pretty slim. It is also quite rare for doctors to see a child with CDC as we have noticed over the years. As for us, we still haven’t met another person with the same syndrome as hers but all this will change this summer when we will attend a conference in New York for individuals with cri du chat syndrome and their families.

The video is just over 4 minutes long and the objective is to raise awareness, to show that instead of focusing on all the things our kids can’t do, we should be told that the spectrum is wide and that our kids can do lots of things! The video will be use in PR campaigns and send to hospitals and tv stations all over the world! It’s informative and really well made. I have put the link below for you to have a look and I would appreciate if you would share it with the team at the Montreal Children’s hospital.

I wish I had been told that the picture that was painted for us in October 1999 was worst case scenario!

Emily is really excited to be in the video 4 times!!! She feels like a superstar and is keeping track of the views count on you tube!!! 🙂

The video is on you tube, just search International cri du chat syndrome awareness video!

Regards,

Pascale (for Emily)

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Not only did I get a reply to my email but he forwarded it to all his colleagues within the genetics dept. at the University and Hospital. I got an email back from a genetic counsellor asking if she could give my contact info to a family she met earlier in the month with a baby boy who was diagnosed with the Cri Du Chat Syndrome

I shared this email with some friends, and again, their reactions were overwhelming. They asked me to share more information, told me I should write a book about Emily, her syndrome and our life….

Instead of a book, I started this blog!

Once again, Emily pushed me outside of my comfort zone. I have protected Emily and our privacy for almost 15 years… This is our journey.

I hope you enjoyed the video!!!