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!