cri du chat syndrome | Lessons from my daughter

I am aware of so many things…

Sometimes I wonder how it is that I can still learn.

I am aware of the time without having to look at a clock.

I am aware of how long it takes for Emily to….

Wake-up

Use the bathroom

Brush her teeth

Have breakfast with or without the tv on

I am aware of ….

How much soap she uses in the shower or if she needs help rinsing her hair

I know how long it will take her to get dress after a shower as opposed to getting dress on a morning without a shower

I am aware of the food we have in the pantry and in the fridge so I know that we are ok to make lunches for school

I am aware of which pieces of clothing are clean and which are in the laundry basket. I always know if what she wants to wear is clean.

I am aware of how long it takes Emily to pick an outfit…

I know when I need to pick her outfit and I know how to lay her clothes on her bed for her to get ready faster.

It’s not even 8am and I’m already aware of so many things…

While I make sure Emily stays on task, I am also getting ready for my day.

I know how she is feeling. I know when she’s healthy or sick and I know when she’s trying to fake being sick. I know which part of her body hurts even when she can’t tell me.

I am aware of the help she will need to clean-up and do her hair and make-up

I know to ask her if she wants to put on jewelry

…

I am aware of the weather

I know how to help Emily pick her shoes, jacket and scarf for the day

I know the music she wants to listen to on the way to school

I am aware when she wants to talk and when she wants to sing.

I see every changes on the floor, ground, sidewalk, hallway, stairs. I know Emily might not see them or might think their is a step when there is none. So I am aware of our surroundings… All the time.

I am aware of so many things….

And it’s not even 8am.

No wonder I’m exhausted at night.

Edit

When we got Emily’s diagnosis of Cri du chat syndrome, we were told everything she would never do. Walk, talk, feed herself, recognize us, show emotions…

So many things…. Such an overwhelming feeling of sadness.

When babies are diagnosed today, parents are still receiving a similar “talk” from their doctor.

In today’s world, parents of newly diagnosed babies can find a supportive community just by searching Facebook. 🙂

Not long after they find us, they are greeted by Rachel…

Rachel is that one person who instantly lift some of the sadness away…

Today, I am introducing to Rachel. She is an inspiration to all of us and I am sure you will be inspired too.

1. Can you tell me about your family?

I am the oldest of 3 children but then I have 2 stepsisters and 2 stepbrothers. David and Rebecca (siblings) Hannah and Abby (stepsisters) and John and William (stepbrothers) my parents names are Simon and Kathryn and my stepdad’s name is Robert (Robbie) and my stepmum’s name is Andrea.

2. Can you tell me about yourself?

I live in New Zealand on the West Coast of the North Island in a city called Wanganui. I have a mild verison of CDC called mosaicism. I collect elephants, love playing on my gameboy especially playing pokemon games. I won Cri Du Chat superhero of the year for 2014.

3. Can you tell me what a mosaic is?

A mosaic is a person who has some of their cells affected by Cri Du Chat so 30% of my blood cells are affected by Cri Du Chat so not all of my blood cells are affected but don’t know the rest of the percentages throughout my body because they can’t test for those cells. My deletion is 13.1 so which means I am missing 90% of my 5P arm.

4. Can you please tell me a success story?

I live independently away from my parents in a house of my own with a ginger and white cat called Fanta. I volunteer at the YMCA where I help run a playgroup on Tuesday mornings and then I help run a programme called Boogie Buddies it is a fitness programme for 2-5 year olds.

5. What else would you like the world to know?

I am a daughter, sister, person living with a disability, an aunt, a friend, a granddaughter, a niece, a girlfriend, an inspiration, a role model, an adult, was named Cri Du Chat superhero of the year for 2014, I am a cook and a member of society, a cousin, a volunteer and a light in this world, a fur mama to Fanta. I am all of these things and so much more. I have CRI DU CHAT SYNDROME!!!

Thank you Rachel!

You are giving a voice to many of our kids and for that you are a true superhero!