Hi! My name is Rachel and I have Cri Du Chat but there is something rare and special about me, I am a mosaic which means a percentage of my cells are affected with Cri Du Chat but not all of them are affected so about 30% of my blood cells are affected. I have a large deletion at 13.1 so I am missing 90% of my 5P arm but I am consider to be mild.
My birthday is 12th of December 1984. I was born in Wellington, New Zealand. When I was born I had the cry but the doctors didn’t pick up on the fact that I had Cri Du Chat until I was 2 in a half. The reason why I got tested for Cri Du Chat is because I had a small head and I wasn’t talking a lot. I had speech therapy to help but it wasn’t until I started school that I learnt how to read my speech developed quickly.
My childhood was awesome because I was involved in what my family was doing like going sailing, fishing, camping, bike riding, hiking through the bush, girl guides skiing until I gave up when I was 13 because my hips started hurting. I was included in everything that my family did and there were times that if something didn’t work for me we would adjust it slightly to where I was included.
How Cri Du Chat affects me is that sometimes I have difficulty talking especially if I can’t pronounce a word or being understood clearly. I have difficulty verbally expressing myself. I have mild hip dysplasia which means when I walk, I walk with a limp because my right hip turns inwards. I don’t like crowds because I get sensory overdrive which means that my brain can’t keep up with my senses and that I get a headache because my brain is trying to get rid of all the excess sensory that I don’t need or even want. I get tried really quickly and easily also. Having sensory overdrive is like the worse feeling ever and to combat it so if I am out walking I listen to my music because it takes out some of the sensory all around me and if I am at a restaurant I have my gameboy or my iphone or my kindle and I just play a game or just read.
In July of this year I have been living in my own house for 5 years independently away from my parents. My Dad brought a house for me and so he is my landlord. I have a ginger and white cat called Fanta who is afraid of strangers and my family but she loves my boyfriend of nine years.
In 2014 my Mum and I went to a conference in America and such had an amazing time at the conference and at the conference I was awarded Cri Du Chat Superhero of the Year for 2014 for all the work that I do on Facebook. I reach out to new parents and tell them my story and give them advice and give them hope for their child’s future.
I have started very recently at the Red Cross Bookshop on Tuesday mornings I work from 10- 12. The Red Cross Bookshop is a second hand bookshop where members of the public donate their books to us and we sell them. I have been also going to the gym 4 mornings a week to help build up my strength, my balance, to help make me stronger.
I write some amazing quotes and this is the first quote that I wrote:
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, I am a well respected member of the Cri Du Chat community 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!!!
