Family Story:
Hello I am Bérengère and my husband is José. We live in the Burgundy region of France. We have 16 year old twins - a girl and a boy and our little Charlotte who is 3.
Charlotte arrived 3 weeks early by Caesarean section. As a baby she slept a lot (and very well!), she rarely cried and when she did she just made a weak animal type sound. She fed well but we noticed her feet were strangely positioned She also had torticolis (twisted neck) which was thankfully corrected by an osteopath.
As time passed we became concerned, she hated being put in a prone position and could not roll over. Her development was slow and we started to see specialists before she was a year old. She was a smiley child but didn't laugh or repeat sounds we made to her. From standing, to get down to the floor she would widen her stance and drop to the floor.
The specilaists started to grow as did her therapy needs, we saw a neuropaediatrician, an allergy specialist a gastroenterologist, physiotherapist, speech therapist and ophthalmologist.
An MRI was undertaken but showed no abnormalities and so we then additionally saw a geneticist and genetic analysis was started.
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BÉRENGÈRE AND CHARLOTTE
written: January 2020
location: France
Being hyper flexible learning to crawl and walk was very difficult for Charlotte. She sat around 11 months, crawled at 18 months and walked at 26 months. She appears hyperactive and can only focus for a few seconds.
She is very sociable and kind to others. Charlotte loves life and keeps us going. She puts everything in her mouth and spreads her fingers
I became very depressed in July 2019 spiralling downward. I realised that Charlotte was picking up on my mood - being fretful and she was sleeping badly. So I started my 'positive therapy' writing down 3 positive things from
everyday and within a few days things turned around. I didn't see the negatives any more but all her qualities.
The first genetic testing was negative. We managed to get schooling for Charlotte - which is not easy in France.
She continues her therapies once a week and although she is starting to make sounds and a few words. We are now starting to use symbols, pictures and signing to support her communication.
Now at 3 years old:
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her feet are still bent despite wearing orthotics.
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She can walk but can not yet run or jump.
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She understands instructions but not the subtleties
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She is starting to use symbols she recently used one to ask for a biscuit!
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She needs help to feed herself
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She is constipated all the time but she will use the potty if prompted to first
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She puts everything in her mouth
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She is hyperactive and cannot focus
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She eats well and will eat anything
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She appears happy, sociable and smiley
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She is funny and makes jokes and she really loves her books and being in water
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It was in January 2020 when we got the result of further genetic testing... This is when we started to ask ourselves lots of questions, what will the future hold? How will life evolve for Charlotte? How independent will she be able to be? All these questions cause us to panic.
The geneticist told us Charlotte was the 13 case in the world and provided us with a few lines of information with a whole range of symptoms. We are advised to carry on with the therapies we already have in place and to return to see them when Charlotte is 6 for a neurological test to measure whether she has a intellectual disability.
He told us he had no more information and so we should go and research on the Internet.
That same evening I was trawling the Internet and found NAA10 Families Together and met Carolyn and all the welcoming and lovely caring families.
We have a loving and supportive family and are lucky enough to also have our super nanny Pauline who is dedicated to Charlotte and takes care of her everyday, she is our Mary Poppins!
We need to fight for those families of the future, providing our stories and possible answers!
That is why I wanted to write my families story, to share, to help, to be reassuring, to try to answer concerns of other parents with children like ours ...we are stronger together.
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Today for all of us the page is white, let's write our future together...