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Thursday, February 9, 2012

Fundraising Focuses

While I work on a couple of posts, which are going to take a bit of emotional energy, I thought I would share some of the stuff I posted on FB when I was fundraising for the Stroud Half Marathon last year.  I decided to focus on some of the aspects of Williams Syndrome (positive and negative) and looking back on it, it was probably what I was doing instead of this in my quest for self counselling.  I have recorded them here, in order that I can look back on the things that I was learning in the early days of knowing about E.  Re reading some of them makes me realise I must have been looking at it in a positive light as I was picking out things I thought people would educate and challenge people.  Well here they are - but I'll be moving on for my next post and be back to the internal.  Hopefully have a job update by then too:

This weeks comment is brought to you courtesy of Stephen Fry and his recent series "Fry's Planet Word". I watched the first episode last night and Mr Fry was explaining how the difference between humans and chimps in terms of speech comes from very slight differences in Chromosome 7 - this caught my attention as chromosome 7 is where a micro deletion causes Williams Syndrome. One of the symptoms of Williams syndrome is a strange change in linguistic capability. Williams people often start speaking late, but they make up for lost time, catching up with and sometimes surpassing their peers in ability. However, while their speech is strong, their understanding of what they are capable of saying is not. This hit home, when in conclusion to episode 1, Mr Fry went back to a family home where there was a two year old girl. He explained that she was speaking in sentences and learning words all the time, but that she understood more than she had yet learned to say. I was left thinking of the 25 genes that are missing from E's make up (from Chromosome 7) and how they have turned that completely around and that he is likely to be able to say far more than he is capable of understanding - a fact that could affect his education, potential work and social aspects of his life greatly.

An easily visible symptom of Williams Syndrome is the unique set of facial features that come with it. They are described as Elfin looks - and generally show a slightly larger forehead but very narrow face below the cheeks. Many Williams people suffer dental problems which become a large part of what people see. But what they have to contend with is balanced by a smile that is nothing but addictive and infectious - E can already make me smile on my worst days just by giving me a grin. I think ear to ear smile was written about a Williams kid somewhere.

Williams people are often found to be highly sensitive to sound. This is caused by an unusual enlarging of parts of the inner working of the ear. It is possible that E and other Williams children will need to wear ear defenders during every day activity to protect a very delicate part of their body. This can cause a great deal of distraction and discomfort at times. However, many Williams people are very interested/talented in music and indeed the enlarging of the areas of the ear is often also seen in professional musicians. This shows the positive balance which comes from some of the difficulties which Williams people have to contend with. Spotify gets a work out keeping music playing in the house right now!

I will be doing a little bit of work on the page soon to properly set up the media links,and to the basic information page - start making this more of a resource for those that come on in and want to learn a little more.  It would appear that since E's Mum started a blog, I have a few visitors.  Glad to have you all, but please forgive the predominantly internal nature of what I write.

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