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Having a diagnosis and an explanation for the way her body developed was a positive experience for Rozario. Even where there is no cure or effective treatment for a genetic condition, simply being informed of the diagnosis can be helpful to patients.
1. Rozario feels that her condition is not understood in the country of her birth and she was even denied schooling because of her condition. Think about patients and families you have known who may be affected by a genetic condition. Are they subjected to any types of prejudice because of the condition? As a health professional, how can you influence societal attitudes to disabled people?
2. In the story, Rozario explains that did not know her ‘real’ father and her mother had no family history of the condition. Does this mean that the condition was necessarily passed on by her biological father? Think about the mechanisms for inheritance. What types of inheritance patterns could result in a child having a genetic condition with no apparent history of the condition on either side of the family?
"I was told off all the time because of the way I sat, cut things at the table during meals. Things got much worse when I was in my early twenties and began to have fits. The doctors were so ignorant that they would say I was pretending. I was completely hopeless and tried desperately to find out what was wrong with me without succeeding."
"I was diagnosed with hypermobility syndrome and a doctor explained everything to me, including all the symptoms and problems this condition can cause. I must say that this changed my life completely for the better, even when I am not feeling well and have dizziness spells. I do not feel so scared any more and I have learnt to manage my condition, to listen to my body, to accept it is different from other people."
Medicine Net: hypermobility syndrome
US National Library of Medicine, Genetics Home Reference - Ehlers-Danlos syndrome