Cornelia de Lange Syndrome Awareness Day 9th May 2009

5th May 1992 a little girl made her way into the world. Tiny tiny little girl 3lb 20z to be exact.

Within minutes of her birth the peadiatrician had declared she had a rare genetic condition known as :-

Cornelia De Lange Syndrome.

Struggling to grasp life she was placed in Intensive care and tubes and drips and suction and machinery became her lifeline.

Her struggle went on for several weeks, until she was well enough to go home. Her birth parents found her complications too difficult to cope with and eventually this tiny little girl went home with a delightful; foster carer and her daughter. After a few months a search was on for a family....just at that time we were nearing the end of our application to adopt a second child. The picture of this little girl appeared in the adoption magazine at just the right moment and we made contact with the Social Worker. Soon we were traveling to be introduced to our new daughter but first we had to talk with the medical advisor.

This was a strange meeting. It seemed this person was keen to put us off. Telling us the little girl we were about to meet was too tiny, very hairy, deaf blind and totally unresponsive. She would never sit alone much less stand or walk, she was never going to achieve in anything and would probably not live very much longer, if she made a year old she would certainly not make 5. We were a little shocked by this persons negativity, we were not put off. We wanted to kjudge for ourselves and excitedly set off to the home of the foster carer.

Arriving at the house the nerves set in...David admitted later that he was quite unsure of what to expect, and so we waited nervously for the door to open and we were ushered in.

There on a blanket on the floor was the tiniest little baby doll you could imagine. At 8 months old this little girl weighed less than a new born might, she was tiny tiny but so alert...no possibility that the prognosis of unresponsive held any weight at all. David spoke to our Social worker who had accompanied us on this journey and the little one jumped....ahhh so not deaf then. I asked permission to pick her up and her foster carer smiled at me and asked how i had managed to resist so long...we all laughed and a deep throaty giggle emerged from the little one. I bent and picked her up and she gazed at her foster carer, tracking her every move...ahhh so not blind then!

Within seconds we were in love. Jonathan, at that time 2 years old was keen to meet his new sister and gave her a love then shuffled off to find the toys.

Just two months later we were retracing our steps back to this house to take our baby girl home. Goodness what a rollercoaster her life has been since then.

In the first year with us we spent as much time in hospital as we did at home. Many times wondering if she would draw her next breath. The reflux that threatened her life so many times was eventually treated when she was 2 years 4 months old and her life was transformed. It was not without it's trade off...her bowel was insulted by the flow of food from the stomach...so little had made it that far before and the insult of surgery had added together to cause horrendous problems and there were times when our life seemed to be one long nappy change!

Once the bowel and stomach settled down and the chest infections were fewer life settled into a more stable routine for a while. Then the dreaded epilepsy took hold and life was a balance between hospital and home again. we learnt to deal with this new situation and became more familiar with the problems. Then behaviour and chestiness and blue spells...getting used to dealing with that....each time she became seriously ill we would sit at her side and wonder if this was the one that would take her from us...each time she seemed to be giving up then suddenly a change and improvement and back home again.

Each birthday a milestone, each achievement a gold medal, each smile an encouragement.

Rosalynd Joy what an amazing young lady you are.

We have met so many wonderful people through being your Mum and Dad.

The Cornelia de Lange Syndrome Foundation exists to support families of children like Rosie. It is a little known charity as Cornelia de Lange Syndrome is so rare. 1 in 10,000-30,000 live births. This year in July the World CdLS Foundation Conference is to be held in Great Britain. This year we are really really hoping to attend...we have not made an international Conference yet...twice we have almost made it and one of the children has been too ill for us to get there. This year we are hoping we will get there. It is to be held in Brighton.

http://www.cdls.org.uk/

Look it up! It looks great fun very informative, a place to meet other families with living miracles like Rosie!









If you feel led to make a donation in honour of Rosie's 17th Birthday I am sure it will be greatly appreciated!




Thank you