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Points for Reflection

Lesley continues to work "seven days a week, 14-16 hours a day". Consider how this might challenge you perception(s) and possibly the way you currently interact and treat individuals living with a genetic illness.

Lesley also mentions that she is "more protective" of her children. Think about the different emotions that someone in a similar position to Lesley might feel towards their affected/at risk children when compared to their unaffected/not at risk children.

Activities

1. Using all the information provided by Lesley, draw a three generation family tree (pedigree). What further questions would you want to ask Lesley? For further information on taking a family history and drawing a family tree see Gaff CL (2005) Identifying clients who might benefit from genetic services and information. Nursing Standard. 20, 1, 49-53. An example of Lesley’s family tree and suggested further questions can be found here.

2. Imagine you are a primary care nurse. How would you support Lesley to reduce the risks of CHD by making lifestyle changes?

Quotes

"Both deaths were very tragic for me and my family and I still feel that they could have been prevented."

"Personally, I work seven days a week, 14-16 hours a day, so as far as my lifestyle goes nothing has really changed apart from my outlook on life. I am far more outspoken. I have good days and bad; luckily the good outnumber the bad."

Further information

UK National Library for Health, Genetic Conditions Specialist Library - Familial Hypercholesterolaemia briefing

Heart UK - patient and professional organisation for FH and related disorders

British Heart Foundation

Department of Health FH Cascade Testing Audit Project

National Institute for Health and Clinical Excellence (NICE) guideline development for FH


Location: The Stories
Transcript

You can download the full transcript here

Familial hypercholesterolaemia (FH)
Lesley recounts the effects this autosomal dominant condition has had on her family

I first discovered that my family had familial hypercholesterolaemia (FH) in 1989 when at the age of 33 I became ill and it was confirmed that I had suffered a heart attack. Following my recovery all my 5 children had blood tests which confirmed that Gavin, Samantha, Clare and Tracey all had FH, but Nia did not. Subsequently my brothers and sisters were all tested; Pauline and Brian both have FH, Rosalyn and Walter do not.

In December 1990 my mother died of a heart attack at the age of 55 and in October 1997 my son Gavin died aged 23 - his post mortem showed that he had suffered at least six previous heart attacks which had not been diagnosed despite extensive tests carried out be various doctors. Both deaths were very tragic for me and my family and I still feel that they could have been prevented.

As far as changing my life - I am much more protective of my children. I try to stress to them the importance of taking their medication and also if they are ill and need to see a doctor I usually try and go with them just to ensure that the GP they see is aware of our family history. My son Gavin was wrongly diagnosed with exercise induced asthma; if he had been diagnosed correctly he may still be alive today.

Personally, I work seven days a week, 14-16 hours a day, so as far as my lifestyle goes nothing has really changed apart from my outlook on life. I am far more outspoken. I have good days and bad; luckily the good outnumber the bad.

I am very lucky and have had very good care from the NHS doctors and nurses both at our hospital and from my GP. To improve care for me and my family I think it would be good practice if my daughters were seen once every couple of years in clinic so that bloods can be checked and any new drugs could be prescribed.