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Points for Reflection

1. Lorraine says "There was suddenly so much to take in...I always went to appointments with him so we could both try to remember most of what was said". Think about when you are delivering complex information to your patients or clients. How often do you pause to check their understanding?

2. Imagine the parents in another family refused to tell their teenage children of the risks to their own health. Should you, as a healthcare practitioner involved in their care, tell them?

Activities

1. Lorraine says "I can’t understand why they didn’t link it with FAP then". Think about Paul’s story and Lorraine’s perspective on this. What ‘warning flags’ are there in their accounts that should have alerted health professionals involved in Paul’s care to the possible nature of his condition? Outline briefly what you think these are.

2. For people in Paul’s situation, individuals who have a positive test can have colon screening and potentially preventive surgery. Do you think gene testing in this situation is different from genetic testing for a condition such a Huntington’s disease where no preventive action is possible? List the potential advantages and disadvantages of testing in both situations.

Quotes

"When the results came through and we realised our children had a 50/50 chance of having FAP it was quite a shock. Having to tell them was really hard and then they each had to decide whether to have a test to find out."

Further information

The Polyposis Registry (established in 1924) has lots of information relating to FAP.

Familial Adenomatous Polyposis patient information and support site FAP gene

Cancer Research UK has information on the high risk groups for bowel cancer

Cancerbackup website

NHS Evidence - genetic conditions briefings: Hereditary colon cancer

National Genetics Education and Development Centre website: FAP

US National Library of Medicine, Genetics Home Reference: Familial Adenomatous Polyposis


Location: The Stories
Transcript

You can download the full transcript here

Family matters: A wife and mother’s story
Lorraine’s perspective on Familial Adenomatous Polyposis in her family

When we found out that my husband had to have an operation on his colon I wasn’t too surprised because of all the problems he’d been having over the years. However, when the results of the biopsies came about 10 days after the operation it was quite a shock. There was suddenly so much to take in, not only him having to cope with the recovery, changing the bags, etc but then having to see an oncologist to talk about having chemotherapy and all that information to take in. I always went to appointments with him so we could both try to remember most of what was said.

The one thing which still makes me wonder is that 6 years earlier my husband had a colonoscopy and had several polyps removed and sent for biopsy and he was told he didn’t need any follow up treatment or further investigation. I can’t understand why they didn’t link it with FAP (familial adenomatous polyposis) then.

I can’t really remember what led up to us going to see the Professor, the genetic consultant just him explaining the implications of FAP and that the blood test would take a long time to confirm if it was that. The genetic nurse came to our house to do a family tree on my husband’s father’s side of the family. When the results came through and we realised our children had a 50/50 chance of having FAP it was quite a shock. Having to tell them was really hard and then they each had to decide whether to have a test to find out. The younger two had a consultation at the genetic clinic and decided more or less straight away to have the test. Our older son wanted to wait before doing anything. I was very overwhelmed by it all when I realised what the implications were if the tests were positive. When our daughter got her results it seemed terrible to think what she’d got to go through. It would have been a help if we could have spoken to someone else whose family had been through the same trauma.

The care my husband received from all the different areas was very good. The stoma nurses, the Oncology Unit, and the surgeon were all brilliant. However, I did feel everything focuses on “the patient” and the partner in a way just tags along. I can’t remember anyone asking me how I felt or if I was coping alright. I think that is something which could be improved on if only to recognise that partners might be glad of more support. I felt very drained during the whole time but felt I had to keep a brave face on things. I still am quite protective towards my husband and worry sometimes that he might overdo it or take on too many projects. However, I think now we are beginning to realise that we have to think of ourselves a bit more and look forward and not back.

An update from Lorraine - October 2009

My husband was referred to several different departments and consultants when diagnosed with FAP because of the numerous conditions which can occur. I would advise anyone to make notes after attending an appointment to help in the future when trying to remember these past events.

Only recently my husband had to see a consultant and when we mentioned something said to him a few years ago, he was told “It was highly unlikely” and made us feel as though we were making it up. We mentioned the gene and this was also dismissed out of hand although there are well known links to dental problems.

If we had made a note at the time it would have been very beneficial and saved us afterwards contacting our Genetics Centre who found the report to confirm everything.

Also, after eight years, in an attempt to return to a ‘normal’ life we threw away the old appointment cards which we thought at the time would be of no further use. As it turned out, they would and still possibly could in the future have been very useful.