Rachel

New Zealand, December 1984

The results of being mosaic for cri du chat syndrome are extremely variable and not all will be like Rachel. For those wanting information on mosaicism please contact us, the support group in your own country or the one nearest to you (see our links page).

When she was 15 years old, Rachel travelled from New Zealand to Sydney with her mother Kathryn to meet with families from the Australian Cri du Chat Syndrome Support Group.

Rachel is mosaic for 5p minus which means that only some of the cells in her body contain a deleted chromosome number 5 (5p minus). The deletion of part of the short arm of one of the number 5 chromosomes usually results in cri du chat syndrome.

Because Rachel only has this deletion in some of her cells, she has almost no sign of the sort of features that are part of the cri du chat syndrome. Rachel attends a regular high school where she does much the same work as her peers. This is only a brief introduction to Rachel who is perfectly capable of telling us her own story and told me at the picnic that she will write something for this page herself when she is at home.

Update September 2004

Hi my name is Rachel Jane. I was born on 12th December 1984. I am 19 years old. I live in Wanganui New Zealand, with my family. My Mum Kathryn and my Dad Simon divorced when I was only 10. In my family I have a sister called Rebecca who is 13. My brother David is studying at Otago University he is 18. I have two stepsisters called Hannah (15) and Abby (13). I have two stepbrothers called William (14) and John (12).

I have a stepmum called Andrea and a stepfather called Rob. My best friends are Lea, Gabby, Michelle, Tim and Kayla who I help out in the learning centre. I have two dogs at Dad’s called Rusty and Angus. I have five cats their names are Narla and Mia who live at Dad’s. Muffin and Jaffa and Beanie who is my sister’s cat. I have to wear braces I have had them on for over a year now.

My hobbies are reading and writing stories, typing on my computer, poems, watching tv, playing on my gameboy. I love spending my money on magazines, chocolate, cds, vanilla coke. I have my own cellphone which I like texting to all of my friends and emailing them. My favourite bands and singers are Blue, Westlife, Backstreet Boys, Ronan Keating, Boyzone. I collect five and ten cent pieces. My favourite food is chocolate. My favourite actors and actresses are Brad Pitt and Jennifer Aniston. I love walking to and from my course and into town. I have read the entire teenage section in our library.

I am doing a teacher aide course this year. This year I am not properly enrolled because I learn by repeating things so I am going to do the course again next year. I do work experience as part of my course and for this I go to my old secondary school and help the disabled students. I don’t like people who say just because I am disabled I can’t be a teacher aide.

I have mosaic cri du chat. I was diagnosed when I was 2 ½. I love my life and I wouldn’t change it for the world.

Update by Rachel December 2006

Hi, everyone it is almost Christmas time and I want to just update you on my life from September 2004 when I last posted my news. I have graduated from my teacher aide course with Training for You. It took me 2 years to get my certificate. I have been working since the beginning of this year as a teacher aide at Cullinane College with a lovely group of people. I am working in the learning centre and also out in the school with some disabled students.

I am on the mainstream supported employment programme which means people with disabilities can work in the state services in New Zealand and get supported by having the salary paid for a year by the government. In the second year the government pays ½ and the school pays the other ½. It’s to give disabled people a chance at employment.

Last year I had my 21st birthday on December 12th. All of my Mum’s side of the family and one of my friends from my course and school and my second mother and third father celebrated with me. I made a short speech which everyone enjoyed and laughed at. I really enjoyed the night. My aim in 2007 is to be living in a flat with couple of flat-mates as company.

Update by Rachel January 2009

Hi Margarette,

It is Rachel Dempsey here from New Zealand. My really exciting news is that I don’t live at home anymore I have moved out and am living in a flat with three flat mates, Kayla who is in a wheelchair, Sarah or Blue is Kayla’s friend who lives in her own little flat out the back of ours and Teresa who is living with Down syndrome and I moved in on Friday 9th January.

Love from Rachel

Congratulations Rachel! And of course congratulations to her family. What an achievement! – Margarette