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Ken sometimes helps in the education of health professionals about Marfan syndrome by agreeing for them to examine and assess his clinical symptoms. He says "unfortunately some of them just say 'I’m sorry I don’t know what he is' and of course, it’s a good learning curve for them to see me and to examine me".
• When you are assessing or caring for a patient and you are unfamiliar with the diagnosis, what are the steps you take to find out more about the condition and the needs of the individuals and their family? Is there anything else you could do?
• Put yourself in Ken’s position and consider how you might feel if you frequently encountered heath professionals who knew little about your condition. As a patient, what expectations would you have about what a member of staff should do?
1. Ken says, "Years ago the average lifespan was 32 and then it was increased to 44 but these are also severe cases. With the research and technology of today, with the Marfan specialists, we are now trying to push this limit to 70 and beyond".
Marfan syndrome is a disorder of connective tissue. One of the major causes of death in individuals with Marfan syndrome is as a result of aortic rupture. Read the articles below to find out more about the new drug therapies (including losartan) which are currently being tested and show promising results in many individuals with Marfan syndrome.
• Marfan syndrome - Part 1: pathophysiology and diagnosis. Cañadas et al, Nature Reviews Cardiology 2010 May; 7(5):256-65. Epub 2010 Mar 30.
• Marfan syndrome - Part 2: treatment and management of patients. Cañadas et al, Nature Reviews Cardiology 2010 May; 7(5):256-65. Epub 2010 Mar 30.
2. From the information given in his story, draw Ken’s family tree. You may wish to refer to the ‘Taking and Drawing a Family History series’ on the National Genetics Education and Development Centre’s website to help you.
3. In some families, a dominantly inherited condition may appear to have skipped a generation if individuals do not appear to have the same signs and symptoms as their relation. However, in order for the gene change to be present in the next generation, it will have to have been present in the parent as well and a gene can never skip generations. A number of genetics conditions have a variable pattern of disease expression within a family. Think about how you would explain this if an affected person told you that genes in their family ‘skipped generations’.
• To find out more about this, read the information on family history and risk assessment from the questions and answers section written to accompany the recent article Understanding the role of genetics and genomics in health and disease (Kirk & Tonkin; Nursing Times 17 November 2009 Vol 105 No 45; www.nursingtimes.net).
• Ken talks of himself as ‘a Marfan’, and other affected people as ‘fellow Marfans’, but do you think this would be an appropriate way for a health professional to refer to people with Marfan syndrome?
"Some of the doctors that are qualified will come up and say ‘thank you so much for sharing this with me because this is so important because we’ve only got a little bit in the book telling us about your illness, to actually talk to a person that has suffered with it all his life and is so knowledgeable about it, this is the kind of thing we need’".
"The doctors know a little bit about it but a lot of them out there don’t know the full depth of it".
"Get a referral from your doctor to go to the people who really know about the illness".
"I have learnt about the illness through my own experiences with the illness and also through specialised people that know about the illness, so for me, to pass this knowledge onto people...the future doctors, the nurses of the future....I think it is so important that all this information is passed onto them".
"Yes it does affect me, I suffer with pain constantly...BUT I will not let it get me down. I’m here to help other people, I try and keep myself jolly, that sort of thing, and I think that helps tremendously".
"Try and live your life to the full but be careful...but don’t let it rule your life by all means. There is help out there and please try and get that help".
National Genetics Education and Development Centre - Marfan syndrome
NHS Choices - Marfan syndrome
Genome.gov - Marfan syndrome
Genetics Home Reference - Marfan syndrome
NHS Choices - Carers direct
NHS Evidence - Marfan syndrome
Cardiac Risk in the Young (CRY) - Marfan syndrome
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