Carys’ story – by Sara

I met Sara recently through our local mum’s network (again, with thanks to FaceBook / Mark Zuckerberg and the age of social networks.) I noticed she was doing awareness raising for William’s Syndrome, a rare genetic condition which affects 1 in 10,000 people worldwide. A quick cyber stalk revealed that we had a DJ friend in common, which says something about us both and our lives before children! (I promise to get the cyber stalking under control by the way.) I got in touch with Sara to tell her about Marigold and we found out we live virtually round the corner from each other. Sara came for a playdate recently with a view to talking about helpful physio and occupational therapy for her daughter Carys, but which actually turned into a tea fuelled talkathon as we shared lots of stories and things in common, interspersed with frank and honest accounts of the run up to our unique / rare children being born.

I warmed to Sara instantly – having children with additional needs creates an immediate bond of course – but also she is great company, has a fabulous sense of humour and brought some posh Bonne Maman biscuits round with her which is always an instant hit. I am looking forward to further playdates and introducing husbands in time, although we have established they support different football teams so are not entirely sure how that will go.

Carys is enchantingly lovely. Please read Sarah’s very moving account of her experience and to find out more about Williams Syndrome.

Carys

We were told that Carys had Williams Syndrome 3 weeks before she was born.

She had measured small throughout the pregnancy and after one particularly long, silent scan at 36 weeks, they took me into a  teeny, hospital-beige room and told me they thought she had Downs Syndrome or Achondroplasia (Dwarfism) as there were several markers for each.

A full genetic test was carried out and we had a wait of 5 tearful days to find out the results. Rob and I had a surreal conversation, which syndrome would you prefer? Downs or Dwarfism?

Finally we received the call from the consultant to tell us that she didn’t have either of these conditions. The full report would be through in another week but everything looked fine, she was just a small baby. Cue flags, bells and whistles, naked dancing in the street and celebrating our good fortune.

One week later we had another phone call to say she had Williams Syndrome, they were very sorry and it wasn’t something they were expecting.

So there it was.

After a frantic Google session, we discovered Williams children have happy, friendly characters, striking verbal skills and often a great love of music. Hey, this isn’t so bad, we thought! Actually, could this be better than a regular baby? Always smiling, musical prodigy…woo hoo, we’ve scored!

After a few sobering hospital appointments where we were told there was a 30% chance Carys would die of heart failure and her life expectancy was ‘significantly reduced’ we realised that perhaps we had filtered out the crap stuff. (This statistic was their personal view by the way, and is not supported by any research.)

Williams Syndrome is caused by a micro deletion of genetic material from chromosome 7, including the gene elastin.

In layman’s terms, it’s a bit like Downs Syndrome. Symptoms include distinct ‘pixie-like’ facial features, heart defects, circulatory problems, delayed mobility, behavioural challenges and learning disabilities.

Despite a comprehensive report identifying the exact genetic material that Carys is missing, no-one can tell us how she will be affected other than she has a ‘classic deletion’ found in Williams. So we think she is probably mid-way on the spectrum. She is unlikely to live independently, have a job or get married and will need on-going medical intervention and support throughout her life.

But the parameters of what we need as a family to be happy have now shifted. They are not so much based on what our children achieve but more on how fulfilled and content they are. Actually, that is our focus for all of us now.

Going back to Helen’s first blog about Marigold, sometimes you have to look beyond the diagnosis, live in the moment and appreciate the wonder and beauty that is your tiny child.

Carys loves blowing raspberries, watching her big sister play, being outside with the sky and the trees and looking at her daddy.

And that is who she is now and we thank our lucky stars for her.

*The US Williams website has some particularly helpful and informative videos at this link:

https://williams-syndrome.org/what-is-williams-syndrome

And the UK’s volunteer-run charity can be found at:

http://williams-syndrome.org.uk

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