Change Font Size
The story toolbox
Show toolkit content

Points for Reflection

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?

Activities

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?

Quotes

"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".

Further information

Marfan Trust

National Marfan Foundation

Marfan Association UK

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

British Heart Foundation (BHF) has a general fact sheet on Marfan syndrome, a clinical guide for healthcare professionals and a guide for patients.

Expert Patients Programme

Expert commentary

Read an expert commentary click here

Location: The Stories
A life living with, and teaching others about Marfan syndrome
Ken’s experiences of having an autosomal dominant connective tissue disorder

In this interview, Ken talks about the extensive range of Marfan syndrome-associated symptoms that he has experienced, the impact these have had on his life and the various treatments and operations he has undergone.

During clinical appointments and hospital admissions, he has come across many health professionals at every grade who are not familiar with the condition. Rather than be frustrated by this, Ken has taken a proactive approach to helping educate others about what having Marfan syndrome means.

Ken’s wife, Jacqueline, also shares her experiences.
Read the story on screen

Print out the story (PDF)

Print out the toolkit

View and listen to story clips

Clinical features of Marfan syndrome

Diagnosis and family history

Genetics of Marfan syndrome

Ongoing care

Role of the GP

Learning from patient experience

Expert patient

Impact on every day life

The help is out there

   How does this story relate to professional practice?

We have linked this story to the Nursing Competences in Genetics (NCG) for nurses, midwives and health visitors. Further information on the competence frameworks can be found here

Understanding the many ways a genetic condition may appear in an individual (NCG 4) is a crucial component of being able to identify those with or at risk of a genetic condition (NCG 1). In Ken’s case, the health professional was able to make a diagnosis based on his clinical symptoms and then in asking about other family members was able to identify how the condition had been passed on to him.

For health professionals like those that Ken has met who know very little about Marfan syndrome it is important that they are aware of the limitation of their knowledge, taking appropriate actions to recognise areas where professional development related to genetics would be beneficial (NCG 6), and also that they know where to obtain current, credible information for themselves and clients (NCG 7).

Ken is extremely knowledgeable about Marfan syndrome, describing many of the clinical symptoms associated with it; how his own symptoms and health needs have changed over time and the ongoing care he receives to manage his condition such as ECG scans and orthopaedic and ophthalmic monitoring. This illustrates the importance of not only recognising the expertise that those with enduring health needs develop through direct experience, but also of providing ongoing care and support and responding to changing needs over time (NCG 8).

We have linked this story to the learning outcomes for GPs listed in the Royal College of General Practitioners Curriculum Statement 6 ‘Genetics in Primary Care’, which describes the knowledge, skills and attitudes that a GP requires when relating to patients and families with genetic conditions. Further information on these learning outcomes can be found at: www.rcgp-curriculum.org.uk/PDF/curr_6_Genetics_in_Primary_Care.pdf

Ken provides a comprehensive description of Marfan syndrome as a multi-system disorder and explains how his ongoing clinical management is coordinated by a team of specialist healthcare professionals (GP-1h; GP-4a).

Ken describes his family’s history of Marfan syndrome and explains that his grandfather, mother and brother and nephew have all been affected. It is important that healthcare professionals such as GPs can obtain a family history by asking relevant questions and using their knowledge of inheritance patterns, and interpret this information to identify others who may have, or be at risk of, a genetic condition (GP-3a; GP-1c).

Marfan syndrome can present with varied clinical features and Ken describes some of the different symptoms that he and other family members have presented with, reminding healthcare professionals of the need to be aware of the heterogeneity of some genetic conditions and the importance of being able to assess risk to other family members (GP-3d).

Ken highlights the need for healthcare professionals to recognise the limitations of their experience when it comes to managing patients with genetic conditions, and to refer patients to the appropriate specialists for held and information (GP-8a), saying “To actually know about Marfan you have got to go down that line and become a Marfan specialist…. Get a referral from your doctor to go to the people who really know about the illness”.

Content relating to the learning outcomes in genetics for medical students will appear here shortly.

Quick Theme Search





Quick Text Search


What do you think about this story? Please leave your feedback.

Story Title

Feedback