My name is Emma Clarke and, to provide a brief background, I was diagnosed with Turner Syndrome (TS) before birth. Turner Syndrome is a genetic condition which results from the partial or total absence of an X chromosome. There are two types of Turner Syndrome — mosaic (partial absence) and classic (total absence). The symptoms that individuals display can vary. However, some typical symptoms include short stature and delayed physical development.
Turner Syndrome was not, and is still not, a well-known condition. This meant my parents had to fight to get appropriate treatment and further information about my care and possible needs. Fortunately, my parents were provided with information about the Turner Syndrome Support Society, and the executive officer Arlene Smyth has been a big help in providing advice and support to my family. This has inspired me, in my current academic research projects, to focus on increasing people’s understanding of Turner Syndrome. Although recently there has been increased awareness of the condition, I think more still needs to be done about understanding the impact of the condition on the individual and quality of life.
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