#1
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This is a joint spotlight this month due to the lack of one last month so thanks to both members who were selected Smile hope you enjoy reading!!

1) Tell us about your Childs disability and age?
Nicole will be 8 on the 7th of November and she has Cri-Du-chat syndrome, global development delay, coarctaction of the aorta, ADHD, asthma, reflux and constipation

Jessica has just turned 3 and she has Cri-Du-Chat Syndrome, hypothroidism, anaemia, severe reflux and global development delay.

Both children have difficult sleep patterns, they can survive on 3-5 hours sleep per 24 hours its just a pity we can't be the same.

2) Tell us about the day you got the diagnosis?
Nicole went into her 8 week appointment with her GP and she told me that her reflexes weren't were they should be so she got us to return when she was 10 weeks old. When Nicole was being examined it was lunch time and her door was open (thank god) and another doctor was passing the room and heard her cry, he backtracked into the room and immediately said 'i think she has cri-du-chat syndrome'. I asked him 'how can you diagnose her with anything without even examining her'. He stated it was her cry, she sounded like a cat. He referred her to the hospital but before we got that appointment Nicole stopped breathing at 12 weeks old. i didn't have the internet and was not told anything about CDC so i didn't know that most CDC children have apnoea's related to there reflux. While she was in hospital she had genetic testing, she was also diagnosed with reflux to get her onto medication and a monitor to tell us if she had another apnoea (which happened often) she was formally diagnosed at 20 weeks old.

As my husband has a genetic abnormality, balanced translocation between chromosomes 5 and 14 (which we found out about after Nicole was born) we were given the chance to have testing while I was pregnant with Jessica, i refused this as I knew in my heart that I would never be able to do anything about it if it was CDC. when Jessica was 16 days old we were told that she had been overdosed, that she had a heart condition and that she had CDC, it was a bit much having all that information all at once but we dealt with it.

3) Who was the first person you told about your Childs diagnosis and how did they react?
We told my husbands parents first with both our children. They are fantastic grand parents and even with my father in-law having cancer he is always wanting them round, hugs them, plays with them and never treats them any different, (well except they can get away with making a mess)

4) What is your Childs biggest achievement to date?
Nicole's was walking, we were told that she would never walk and when she was 3.5 years old, after many many late nights with my hubby doing physio she started walking.

Jessica is to young I think to comment on hers yet but from my point of view she has survived. She was born at 32 weeks on the stairs of my in-laws home, no-one caught her so her head hit the stairs and the cord snapped. She was overdosed in hospital, diagnosed with CDC and other things. She's stopped breathing nearly everyday for 2.5 years (she still does but not as frequent) and she is still here so that's her biggest achievement to date.

5) What 3 tips would you give to parents of disabled children?
1) Don't worry about what he/she can't do...work on the things he/she can do

2) Don't listen to Paed's, specialists etc, they know the medical side of things, not the day to day living with your child. They told me Nicole would never walk, talk and would die in early infancy, she does walk (short distances) she has a few words and signs and the most important thing is she survived early infancy with ease.

3) Get the internet, Forums like this one can be a life saver, forums relating to your child's disability can be a great support and can give you lots of information about there children, I wouldn't know anything about CDC without it. Also it can give you a break from the madness, I keep sane by having a facebook account, its brilliant.

6) What has your Childs disability taught you and how has it changed you?
I don't think it has changed me, I'm still the same although after many years of my girls having apnoea's I can be calm in any situation.

7) What did your Childs diagnosis change in terms of your dreams for the future?
I never really had any plans for the future as I was only 20 when I had Nicole, but I knew from the day she was diagnosed that I would never be able to work.

8) You run the country and you have the power to change ONE thing what would it be?
To give more support to parents/carers and money to all services for disabled children/adults so that we can supply everything that they need regardless of cost.

9) What organization has delivered excellent service when dealing with any aspect of your Childs disability?
Nicole and Jessica's old Paediatrician (the girls school has there own, so we had to change, she is lovely to) she got everything that we needed, never looked down on us and treated us as equals.

Jessica's locum OT, she got all of the equipment for her including a special needs pram with all the extras which your not supposed to get, hehe.


10) Have you ever had to fight for something to help your Childs disability?
I've never actually had to fight for anything for my girls. But I do know that I will have to start to get us a home that is suitable for them.
#2
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thanks for sharing ur story Smile x
#3
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thank you for that.
#4
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thanks for sharing your story xx
teagan mia 03/05/06Heart
ruby hannah 12/09/08 Heart
jaimee evanna 07/10/09 Heart
jaimee grade 4 ivh hemiplegia cp and global development delay
love my 3 girls all the world mommys perfect princesses xxxx


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