Friday Favourites...Williams Syndrome

Today is Williams Syndrome Awareness Day...I'm sure some of you will be wondering what on earth WS is. Well, let me enlighten you...or rather, let this quote taken from the WS website do the job for me! 

"Williams syndrome (WS) is a genetic condition that is present at birth and can affect anyone.  It is characterised by medical problems, including cardiovascular disease, developmental delays, and learning disabilities.  These often occur side by side with striking verbal abilities, highly social personalities and an affinity for music." (Taken from: https://williams-syndrome.org/what-is-williams-syndrome)

It is, essentially, a micro deletion of part of chromosome 7, which includes the elastin gene & others too. Clinical diagnosis can be reached with a FISH test, a blood test that shows the deletion. It can also be identified by certain traits such as facial features (sometimes described as 'elfin' - blue eyes, wider smile, flattened nasal bridge), symptoms such as hypercalcaemia (raised calcium levels in the blood), excessive vomiting (often mistaken for reflux), poor growth and a heart murmur. 

When I read that back to myself it sounds rather terrifying & it certainly can be. This condition has taken the lives of many children and adults due to serious cardiovascular issues. Developmental delays can be challenging too, learning to find methods to unlock skills & manage any health complaints. But not everyone is affected in the same way.

My daughter has Williams Syndrome, she has had it since conception. It is not a disease, she doesn't suffer from it, she just has it. We have been incredibly fortunate (so far) - Bean doesn't have the heart condition, which makes us feel enormously grateful. She did have hypercalcaemia and that was incredibly difficult to manage, as every GP I turned to dismissed it as reflux. We were hospitalised as a result of it, almost two years ago. We had to give her a very specific formula (Locasol) and a restricted diet until she was 18 months old. This also involved weekly blood tests, which, as you can imagine, was very trying and upsetting.

So, what does William Syndrome mean to our family? It means we are the luckiest four people in the world. We have been allowed into a world of wonder...we no longer worry about the petty and absurd things that troubled us before she was diagnosed, we have a daughter who has taught us more in 2 years then we ever thought possible & we have found comrades on our journey that have kept us buoyant & championed us in our hour of need. I can remember holding her in my arms when a consultant first uttered the words 'Williams Syndrome' and through the tears I thought, I wonder how many men & women would swap places with us right now, just to feel the joy (& sorrow, sometimes) of being a parent. How many women who have empty wombs and arms would give anything to love this precious little girl that we have? It made me silence the voice in my head telling me to be consumed by the sadness of why and the apparent injustice. 

Williams Syndrome is a tiny (and I mean tiny) part of my daughter - she is so much more than a label, a diagnosis. Of course, it will influence her character and, in some ways, the course her life might take, but it is not her in her entirety. It doesn't define her. She is clever, funny, mischievous, engaging & inspiring. She has propelled us to want more and to do more for other families with children with additional needs.  Without her we would never have met some of the most courageous people & fascinating experts - the ones who battle every day to keep their children,  themselves & their patients afloat. These people are the light in my life on any of my weaker days. 

So, my Friday Favourite today is Williams Syndrome. It is a life changing diagnosis and one that I probably wouldn't have chosen, but now I would never wish it away. In fact, I love and cherish it. If your child has WS or you, like me 2 years ago, are awaiting official diagnosis, then my advice to you is be brave and be patient...you are about to be given the most incredible gift. Even if your heart is breaking for your little person right now, they will sew it back together again for you. Your child is not a list of characteristics, they are not a set of predetermined traits and they are not all the same. WS doesn't have to mean an inability to live, to be independent or be happy. All of these things are achievable in many different forms - believe in your child, believe in yourself and they will inspire you in every way. 

There is life beyond a diagnosis and it will be more wonderful then you ever imagine. 

Happy Friday All...

Bibi xx

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http://www.williams-syndrome.org.uk/node/3 (UK SITE)

https://williams-syndrome.org/what-is-williams-syndrome (USA SITE)