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Points for Reflection

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.

Activities

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?

Quotes

"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."

Further information

The Hypermobility Syndrome Association

Medicine Net: hypermobility syndrome

US National Library of Medicine, Genetics Home Reference - Ehlers-Danlos syndrome
Location: The Stories
Transcript

You can download the full transcript here

Rozario’s story: an experience of illness across cultures
Living with hypermobility syndrome - an autosomal dominant condition

As I mentioned, I suffered a lot of bullying and discrimination as a child due to the hypermobility syndrome that I suffer from.

I was bought up [overseas] in the late 1950’s, 1960’s. As you can imagine, there was a lot of ignorance over there in those days.

I can vividly remember when I was little, hearing other children’s remarks about the way I walked, my double joints and posture etc. I had a very sad childhood, partly due to my genetic condition.

I never knew who my real father was and always wondered from whom I got this condition from, as nobody from my mother’s side has it and the supposed father I grew up believing was my real one, did not have it, neither anyone in his 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.

In 1986, I came to England and everything changed. 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.

I must mention that even these days; the lack of information about this condition in [my home country] exists. In one of my last visits there, one of my uncles who is also a doctor, made a nasty remark about me by saying that I look like a fish (no bones). I then told him about my condition but he replied I was making it up, it does not exist.

I forgot to mention that people used to think that I was mentally handicapped because of my condition and it took me a lot of determination and strong will to prove them wrong. I was prevented from attending school until I was 12, having private tuition up to then and when I told my family that I had decided to learn English, they told me that I would never be able to.

I still feel a bit uncomfortable if I have to attend a party and dress up as I am aware of my body shape. However, I try to be as positive as I can be and I just accept the fact that I can not use high heels as I have flat feet. It is quite bad but I wear "Ecco" shoes which help me a lot. This was a big struggle when I was living [at home] as orthopaedic shoes over there are not available in shops. I feel protected here as we have clinics specializing in this condition, physiotherapists and doctors. I bought a scooter to go out when I am not very well. I think I am very fortunate in this country. Unfortunately, I cannot comment on the NHS, as I never use it; I go private.

I wish there would be more special items for people with my condition - such as things we use in the kitchen, offices and steps for the bathroom. I would also like to raise awareness about this condition and funds to support the research.