Our baby girl arrived on June 18 1998. She was tiny; 5lbs 6.5oz and 18 inches long. She was the cutest baby in the nursery. She had a small round head, the cutest cry, beautiful almond shaped eyes, a tiny purple spot on her forehead, a small bald spot on the back of her head, a skin tag near her ear and an inability to latch, suck and swallow.
After 5 days at the hospital, we were sent home with our perfectly healthy baby girl.
Once home, feeding our baby was a never-ending task. We would give her a sip, sit her up and put a hand on her tummy and wait till we felt the sip go down. We would repeat this as many times as it took to feed her maybe 4oz over an hour. More often than not, she would powerfully regurgitate what looked like most of what we’d managed to make her drink.
This was our reality.
We didn’t understand why feeding Emily was so difficult, why she wasn’t gaining weight, why she wasn’t achieving milestones. We had so many unanswered questions but out doctor kept saying everything was fine.
11 months into this adventure, our doctor finally agreed that something wasn’t quite right. We were sent back to the pediatrician who looked at Emily, measured her, asked us a couple of questions then held Emily up in front of her. While holding our baby girl, she pointed out that her legs were crossed and that it was a sure sign that something was wrong with her brain and that she would never walk. She handed me my baby, told me to dress her and that she would send her file to a neurologist.
We left the pediatrician’s office in shock.
The waiting list for a neurology appointment was 12 months long. I was devastated; something was wrong with my baby and we had an appointment in a year with a specialist.
I begged them to call other children’s hospitals, told them that we didn’t mind driving anywhere and would be willing to fly somewhere if it would be faster. The wait lists were the same everywhere and only one hospital had a cancellation list. We got on that list too and lucky for us, someone cancelled their appointment on June 18 1999, Emily’s first birthday.
The neurologist was the first doctor who seemed to care about what we had to say. She listened and suggested a full battery of tests for Emily to determine what was going on. We agreed to have all the tests back-to-back over a couple of days in September.
The first week of October, we received most of the results and were only missing her DNA analysis.
We learned that something wasn’t quite right with the white matter in her brain and needed a MRI to confirm exactly what was going on. Wikipedia tells me that white matter is one of the two components of the central nervous system and that although it was long thought to be passive tissue, it actively affects how the brain learns and functions.
On October 5th, we celebrated our first wedding anniversary knowing that it could all fall apart. Wondering what was wrong with Emily’s brain. Worrying about our future.
On October 6th, we received the phone call that changed everything.
Emily has Cri Du Chat Syndrome which means she’s missing part of the short arm(p) of her 5th chromosome. Jon and I are on the phone, listening to the doctor but I can’t hear anything, I am getting words here and there but my brain is numb, my stomach hurt, it feels like I have been stabbed. I asked only one question, “Does it mean that she is handicapped?” The answer : “Yes, permanently and severely.” I was destroyed, lying on my bedroom floor crying.
My mom reminded me that she was the same little girl from before the call and that now we would know how to help her!Click To Tweet
My mom was visiting that week, she brought Emily to me and told me that regardless of what that phone call was about, that Emily was still my baby girl, she was the same little girl from before the call and that now we would know how to help her!
I LOVE MY MOM!!!
Our appointment with a genetic counsellor was the following week. We did some research in order to prepare ourselves for our appointment. 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.
In the genetic counselor’s office, we sat on a comfy couch with Emily in her car seat on the floor. The genetic student sitting across from us regurgitated information she was reading in the giant book of everything a doctor needs to know.
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. She will be in her own world.
I remember telling them (the student and the genetic counsellor) that Emily knew us and recognized our voices. Her head, the only part of her body she could control, would move slightly as she looked for us when she heard our voices. 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.
There was no doubt in their minds and we could see they felt sorry for us.
Physio and Occupational Therapy wasn’t available close to home; there was all waitlist there too, so we made a monthly trip to Montreal to meet with Emily’s therapists. We learned from them and worked with Emily.
We never had to feed Emily by tube as we knew we could feed her. We worked so hard at keeping her alive for 15 months that we knew we could feed her.
By Christmas 1999 (18 months), Emily could sit on her own but nobody believed she would ever walk.
By March 2001 (2yrs and 9 months), Emily had a walker and By March 2002 (3yrs and 9 months) Emily walked independently.
I never stopped believing in Emily. I was certain when she was first diagnosed that she knew us and loved us and that certainty kept me going.
The challenges life throws at us with this diagnosis are never-ending.
The hair and nail pulling, sleepless nights, scary amount of vomiting, surgeries, hospital stays, getting slapped, pushed, kicked or hit, biting, teeth grinding, my back pain, my concussion, my TMJ, school meetings, tutoring, various therapies, sign language classes, PECS system, psychologist assessment, doctors appointments, vacation days spent at the hospital, schedule juggling and financially broke. Just to name a few.
The achievements and milestones are what makes it all worth it.
Emily is now 17 years old.
She walks, talks and understands two languages (English and French) and speaks a little sign language too.
She rides horses, plays baseball, is on a cheerleading team and attends high school. She has an Individual Educational Plan for school and started working at our local grocery store. She’s been working with private tutors on her Math and Reading for 3 years now and we recently added Writing after Emily asked for it.
Emily is a learner, she is curious and enjoys discovering other cultures. She loves all kinds of food and has a preference for sashimi. She loves American Girl dolls, webkinz and the Paw Patrol. She watches Dancing with the Stars, Once Upon a time, The Big Bang Theory and How I Met Your Mother. She also enjoys SpongeBob Squarepants, The Lion Guard and AFV.
She is a fashionista with her own style and is starting to help around the house with small tasks like helping to empty the dishwasher and fold the laundry.
They told us she would never walk or talk. At 17 she is a fashionista with her own style, and speaks two languages.Click To Tweet
At the beginning of this journey, we didn’t imagine that we’d be the ones teaching medical professionals about Cri du Chat Syndrome, but, with the odds that 1 in 50,000 are born with this syndrome, most doctors and therapists have never seen someone with Cri du Chat Syndrome.
Over the years, Emily has walked into appointments and left specialists completely dumbfounded as they were expecting that kid from the description in the big medical book.
Emily never left her syndrome define her. She is on her own path, doing her own thing.
She is not her syndrome, she is Emily!
Emily never let her syndrome define her. She is on her own path, doing her own thing. Click To Tweet
Please join us on our journey at http://lessonsfrommydaughter.me/
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