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Isabel's Story


Having done the Great South Run once before, I was keen to do it again and this time raise some money for charity. Which charity was an easy choice, as the Fragile X Society have been a constant source of support since the day in November 2007 when we received an out of the blue diagnosis for our 3 year old son, Sean, who until that time had been described as having developmental delay. We had only vaguely heard of this condition previously, as my husband had a colleague whose sons were affected, but we had no real understanding or knowledge of it. I remember well that first phone call to the Society's head office, and while I was in shock that suddenly this developmental delay was permanent, the lovely Lynne Zwink answered my many questions with a calmness which was so needed. The biggest challenge for me was processing the genetic and family implications of this news. It didn't just affect our son's future needs; I knew some of my siblings were still considering having children, and we hadn't necessarily stopped at two (we have an older son, Carrick, who is not affected). It was confirmed that I held the premutation, as did my sister, but both her and my subsequent children were unaffected. Sadly, it became clear that our father's previously unexplained balance and tremor symptoms were probably due to FXTAS, and led to his inability to fight off infections at the end of his life. Rolling forward 16 years from that first diagnosis, our lovely, easy-going, smiley Sean is in his last year at the Further Education unit of his Special School and hoping to go to college next year to continue life skills subjects. While he will always need support, he is a delight and brings us nothing but joy, even if we do have to indulge his current obsession with the TV programme "Loose Women". Strictly and Abba on repeat are not so bad in comparison! Having spent about 7 years on the Fragile X board as Treasurer, I am aware of how tight finances can be, and it was good to be able to do something to support. I've only taken up running later in life but have enjoyed having "public" runs to provide the motivation for training. The Great South weekend has shorter runs on the Saturday and then the big one on the Sunday. Sean and I took part in the 5k run with his Special Olympics group. I really couldn't have believed all those years ago that Sean would have walked, let alone run, in such a big event. It was a mixture of running and walking, but he did it (and it was a warm up for me!) This year the Great South Run itself was on my birthday, which turned out to be a beautiful, sunny, but chilly, October day. Carrick and I did the 10 miles in 1hr 35 and 1hr 40 mins respectively, cheered on by Sean, his sister Evelyn and my husband Ross. I couldn't have wished for a better birthday weekend, and raising £1215 for our favourite charity felt so good. We were blown away by the generosity of our family and friends, and the opportunities it gave us to spread awareness of Fragile X Syndrome.







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