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I first discovered Unique four years ago when my sister’s gorgeous youngest daughter Tilly was diagnosed with Tetrasomy 9p. While very little information was made available to her upon diagnosis, fortunately a friend of mine who works as a paediatrician recommended getting in touch with Unique. As a doctor she knew how valuable the accurate and compassionate information provided by Unique was to families. Finally someone could offer the support and information that is so crucial to families of children with rare chromosome disorders and my sister became a member.
A chance meeting with Sarah Wynn at the Unique Garden at the Hampton Court Flower Show in 2015 gave me the opportunity to find out more about how I could help with the charity’s invaluable work and led to a memorable meeting with the truly inspirational Prisca Middlemiss. I began working for Unique on a voluntary basis helping to update guides, including those for Tetrasomy 9p, 14q11.2, 14q12, 14q13, Diploidy Triploidy and 10p deletions from p11 and p12.
My professional background has included working as a research scientist – specialising in vaccine research – and I have a BSc in Human Genetics and a PhD in Immunology. After having my daughter, Emily, I retrained and worked as a secondary school science teacher before having my son, Kasper, four years ago. Genetics has always been close to my heart and now that they are both in school, and the opportunity to continue working for Unique in a more formal capacity was presented, it seemed like the perfect match. In February 2017 I officially joined the Unique team as a part-time information officer, primarily involved in updating and writing new guides. I look forward to having more contact with Unique’s members through this work and can’t emphasise enough how valuable the information and personal experiences you share with us are. Thank you!