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Point for Reflection

In this family, it may be that the test referred to was not a gene test but a measurement of the levels of cholesterol or lipids in the blood. Should this be treated differently to a genetic test, when the outcome may be that the results provide a person with information about his or her genetic status?

Activities

1. Imagine you are an 18 year old member of this family, awaiting the result of a cholesterol test. What are your feelings?

2. What information do you wish to be given if the result is abnormally high?

Quotes

"I wasnít worried at all because as I say, in those days cholesterol wasnít really a thing ... As things went on, as I got to know more about it I realised it was more serious than was thought. But we got used to that together and it hasnít really been a big problem to us."

.."itís easy to worry yourself into an early grave."

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

ĎIn those days cholesterol wasnít really a thingí - Johnís story.
A growing awareness of the impact of familial hypercholesterolaemia (FH).

Firstly I would like to thank you for coming to the interview today and wanted to start off by asking how did you find out about the condition that exists in your family?

Audrey had already had some pieces removed before I met her so she was already aware of the fact that something was wrong, although in those days cholesterol wasnít as well known as it is now. But it wasnít something that developed slowly. I knew about it straight away as soon as I met Audrey.

And what was your response to finding out about it?

I wasnít worried at all because as I say, in those days cholesterol wasnít really a thing. In fact, to the best of my knowledge most general practitioners didnít know an awful lot about it. As things went on, as I got to know more about it I realised it was more serious than was thought in those days. But we got used to that together and it hasnít really been a big problem to us.

Has it changed your life in any way; your life together and your life apart?

It didnít at first. As Audrey got worse, so the worries got worse, although for years and years she was going along quite normally. Occasionally if we were out in the cold or if she was running up stairs, she would get an angina pain in her throat but it was nothing worse than that. As the years went on and it was getting worse, it was getting more of a worry, but I didnít know the extent of how bad it was getting because she never told me. I knew she wasnít well but I didnít realise how unwell she was. In fact we went to Minorca last year and she suffered an awful lot of pain at that time and whilst we enjoyed the holiday, we were very, very restricted in what we could do. But we got past it and thatís how we stand at the moment. We are OK at the moment.

And how did it affect your life when she was going through the bad bits?

Iím a worrying sort of person, so I worried a bit about her. Apart from that it didnít affect my life at all. It was the worry and the restriction to what we could do. Nothing else.

And the fact that your children have been tested and whatever; how did that impact upon you?

Well the two boys are clear, so thatís not a problem. It is only our daughter who has got this. Just at the moment sheís suffering with lumps on her heels which are cholesterol lumps. Obviously it is a worry but itís not a huge worry because having had Audrey go through this, we know that it is treatable. They can remove the lumps when they get to a suitable size so yes we worry about it, but not an awful lot.

What is your experience of the care been like from the NHS? What has it been like as somebody supporting your wife going through it? What has it been like for you?

For me it has been excellent. The same as Audrey says, it has been excellent. We cannot fault it in any way. We ask questions, we get answers and the attention she has received has been second to none. If we had paid a lot of money to go privately we would not have done any better than we have done. The NHS in my eyes is great. Iíve got no complaints whatsoever.

And have you had lots of information about the condition, given to you?

Oh yes. Normally when Audrey goes for her 6 monthly, 3 monthly, 4 monthly attendances to the lipid clinic I normally see the doctors with her so the information she is given I get at the same time.

And what about the other people in the team? For example, the nurses, do you get to see them frequently?

No we donít see the nurses a lot. We see the nurse specialist and she is excellent. She is a lovely lady. During the time she was in hospital last year to have stents inserted, the nurses on the ward were excellent. On arrival they treated me, Audrey and myself with the utmost respect and the utmost care and I went home because I knew it was going to be some time and at lunchtime I had a phone call from the ward, and the sister on the ward phoned me to tell me that everything was done, everything was alright and I couldnít ask for more.

Is there any one experience that you remember over the others or a number of experiences that really have stayed in your mind and showed you the care and the understanding that you talk about?

Well the big thing is the period when she had the stents inserted into her heart because she went into hospital that day, purely and simply to have an angiogram and the situation was so bad that the surgeon there did the operation straight away, that same morning. I donít think anybody can ask for more than that.

Is there anything you feel we could do to improve the care for you and your family and Iím thinking anything you would like other people to know about or other families to understand, or other patients to understand? Anything at all?

I donít think so. Cholesterol is one of those things you learn to live with and if youíve got this problem, apart from having the attention from the doctors and nurses when you need it, there is very little else you can do. Itís just a question of accepting what youíve got, watching your diet, watching what you do and carrying on with it. Because letís be fair, itís easy to worry yourself into an early grave.

Anything else you would like to add?

I donít think so.

Thank you