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Living with Fragile X syndrome

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My name is Paula and I am 27 years old. I am currently looking for work and volunteer in my spare time. I write articles for the Fragile X society. Since being diagnosed with Fragile X syndrome at age 6, I have had considerable experience of seeing paediatricians and health professionals in this article I describe my experiences. I was born in 1991. Until the age of 5 years, I showed no learning difficulties and all of the milestone tests were normal. We found we had the condition in the family when my male cousin went in for an operation because he had a cleft palate and a hole in the roof of his mouth. The hospital carried out tests and he was diagnosed with Fragile X syndrome. I was diagnosed with the full mutation of Fragile X syndrome when I was 6 years old in 1997. In our immediate family, there are two males and two females who have the full mutation of the gene. Fragile X syndrome is a genetic condition and is the second most common cause of …

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  • Competing interests None declared.

  • Provenance and peer review Commissioned; externally peer reviewed.

  • Patient consent for publication Obtained.