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Points for Reflection

Julie and her husband have become experts on Marfan syndrome and she describes how some health professionals react to this saying, "some doctors were keen for us to tell but some doctors found that our knowledge was greater than theirs and they resented it".

ē Many patients with chronic or life-long conditions and other family members become experts by experience. How do you react when faced with someone who is more knowledgeable that you?

ē What can you do to make the most of their expertise and direct experiences of living with a condition?

Activities

1. Julie and her husband Ken have become experts through experience, and in her story she describes some of the clinical symptoms associated with Marfan syndrome.

ē Using the resources signposted in the further information section, find out about how the clinical features of Marfan syndrome can vary between individuals. Are Kenís dietary needs, with regard to a low fibre diet, common amongst people with Marfan syndrome?

ē Read the summary of Marfan syndrome on the NHS Evidence website:

o Work through the three clinical scenarios

o Find out about the criteria used to make a clinical diagnosis of Marfan syndrome

2. Julie comments "in the beginning because he didnít look ill - he was very, very tall but he didnít look particularly ill. I think he tried to hide a lot of it and it was only as timeís gone on that heís got progressively worse".

As with many conditions, individuals with Marfan syndrome may appear fit and well and it can be some time before clinical signs develop or are recognised. In your area of practice, are you aware of some of the inherited conditions you might come across and what the clinical features are that you would look for? On the Telling Stories website, we have grouped genetic conditions intoclinical specialisms - have a look at some of the conditions relevant to your area of practice.

.3. Julie describes the role she plays in helping to care for her husband and describes some of the practical issues that have to be overcome on a day-to-day basis. As a healthcare professional, how could you support someone like Julie in accessing the help she and her husband might need?

4. Julie talks about reproductive decision making saying "it is an inherited disorder and one that youíd have to think carefully of if you were badly affected as to whether youíd want children or not".

o In your day-to-day practice, imagine you met a woman who is thinking of starting a family and would like to seek some advice as her partner has Marfan syndrome. How could you support the couple? Would you know where to refer them for specialist help? Would you know how to make a referral to your local genetics service? The British Society for Human Genetics website has a directory of UK genetics centres that you might find helpful.

Quotes

It is an inherited disorder and one that youíd have to think carefully of if you were badly affected as to whether youíd want children or not. Obviously those that are least affected it probably isnít such a big decision but I think anyone contemplating having children should think long and hard first"

.

"Over the years obviously things have changed but because itís so gradual it doesnít hit you........itís not like somebody being in a car crash and youíve lost the person you knew, this has been a slow thing thatís happened over the years".

"Iíve never met anyone in a hospital thatís known as much as I have. Thatís not me knowing too much but because Iíve never met a Marfan specialist in the local hospital".

"You canít know too much about your illness".

"Anyone that has Marfan, donít let it get you down...you can live with it"

.

Further information

Marfan Trust

National Marfan Foundation

Marfan Association UK

National Genetics Education and Development Centre - Marfan syndrome

NHS Choices - 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
An expert in my husbandís condition
Julie's story of living with and caring for someone with Marfan syndrome, an autosomal dominant condition

Julie provides an insight into the many practical issues that have to be overcome on a day-to-day basis when living with someone who has a long-term condition like Marfan syndrome. Over time she has built up a significant understanding of the condition and the clinical implications it has for her husband.

Julie's husband, Ken, also tells his story.
Read the story on screen

Print out the story (PDF)

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View and listen to story clips

How Marfan syndrome affects the body

Impact on my husband's health

Knowledge of Marfan syndrome

   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

Julie provides and excellent lay summary of the underlying cause of Marfan syndrome (a deficiency in the connective tissue component called fibrillin). Knowing even a little about the aetiology of a condition can be very useful in helping to understand the clinical signs and symptoms that arise as a result (NCG 4).

As a health professional you canít know everything about every condition (NCG 6). Recognising that individuals with long-term conditions and their family members or carers often become experts in the condition, it is important to be able to utilise this expertise to gain knowledge for oneself and colleagues and to discuss how such expertise within a family can inform ongoing care (NCG 8).

We have linked this story to the learning outcomes for GPs listed in the Royal College of General Practitioners Curriculum Statement 6 ĎGenetics in Primary Careí, 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

Julieís account highlights some of the practical aspects of living with Marfan syndrome such as the dietary considerations, the equipment and aids the couple have in their home, the feasibility of travelling and the impact these factors have on their social life, all of which serve as reminders of the impact - socially, practically and emotionally - a genetic condition can have not just on the individual, but also on their families (GP-2c; GP-6b). She highlights the valuable help they have received from support organisations such as the Marfan Trust, reminding healthcare professionals of the importance of providing individuals with information about the support services available so that they can be accessed readily (GP-1i).

Julie explains that, over time, she has gained knowledge and understanding about her husbandís condition - largely from him, but also from support organisations and some of the health professionals they have encountered. It is important to ensure that information about genetic conditions, in this case Marfan syndrome, is communicated to carers such as Julie, in a clear and understandable way so that they are best placed to care for partners or family members (GP-2b).

Julie describes some of the consultations that Ken has with specialist healthcare professionals, such as ophthalmologists and cardiologists, and social services as part of the management of his condition. In providing a comprehensive approach to patient management, particularly for multi-system conditions such as Marfan syndrome, GPs are likely to need to liaise, and coordinate care, with other healthcare professionals (GP-1h; GP-4a). Furthermore, a GP would need to be involved in ensuring that systems are in place to monitor individuals, such as Ken, who have a genetic condition and need to undergo regular surveillance (GP-4b).

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

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