Understanding Rare Chromosome and Gene Disorders
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Isobel Hindle


Following completion of my English degree at Durham University, I took a teacherstraining diploma. During the course of that training I had many weeks of student teaching experience some of which was spent in a special needsschool (as it was then called). There for the first time, I encountered children with widely varying degrees of disability. It was memorable. Little did I know that a few years later both the memory and the experience would be hugely valuable to me when my own son was born with a learning disability. Stephen is now almost forty but it was only three years ago that his rare chromosome disorder of 48,XXYY was diagnosed. Had he born today, that diagnosis would have been procured much earlier. It finally brought together, however, many features about Stephen which seemed previously unrelated and somewhat random: born with talipes equinavarus, later a speech problem and the emergence of a learning disability, difficulty in carrying out complex instructions, serious issues not impacting as much as one would expect and so the list could go on. In adulthood, Stephen has become a reticent but kind and caring man. Socially he is completely relaxed within the family and with family friends he has known for a long time. He does not cope well with change but lives, as is his wish, in semi supported housing where 24 hour help is at hand. Physically he has circulatory problems. Once diagnosed, we googled rare chromosome disorders. That was when we discovered Unique and the useful information and advice it puts out. It was my wish to support the Charity as much as possible and so I became a Trustee.