Telling Stories - Understanding Real Life Genetics

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".

• 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?

• 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.

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

• 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 didn’t look ill - he was very, very tall but he didn’t look particularly ill. I think he tried to hide a lot of it and it was only as time’s gone on that he’s 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 you’d have to think carefully of if you were badly affected as to whether you’d 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 you’d have to think carefully of if you were badly affected as to whether you’d want children or not. Obviously those that are least affected it probably isn’t 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 it’s so gradual it doesn’t hit you........it’s not like somebody being in a car crash and you’ve lost the person you knew, this has been a slow thing that’s happened over the years".

"I’ve never met anyone in a hospital that’s known as much as I have. That’s not me knowing too much but because I’ve never met a Marfan specialist in the local hospital".

"You can’t know too much about your illness".

"Anyone that has Marfan, don’t let it get you down...you can live with it"