Anna is 42 years old and has been clinically diagnosed with FAP. A few years ago, Anna’s GP mentioned the possibility of genetic testing. She met with a genetic counsellor and chose to be tested for an APC mutation. Although the results of this test would not change her own medical management, she hoped it would give insight into the management of her daughter, age 17 and two sons, age 12 and 15.
Anna’s genetic test showed a mutation in the APC gene. Her daughter tested negative for this mutation and was reassured that despite the strong family history, she was at general population risk for developing colon cancer.
Anna’s sons however both tested positive for the mutation. Both sons recently underwent surgery to remove their colons.
Empowering the patient
“Although I knew that this information would not change anything for me, I wanted to be tested for my children. I needed to know for them whether I carried this mutation. Although it obviously would have been better if none of my children had FAP, at least now we can do something for the boys.”
“When my eldest son found out that he had inherited the mutation, he was devastated. He told me ‘Mum I feel like I have been told that I have cancer’. He was never told that, but for him, getting this information was very difficult”.
“At first my daughter was relieved that she did not have the mutation and didn’t have to undergo screening or surgery. Later though, I noticed she became quite depressed. After some discussion, she admitted she felt guilty that her brothers had to undergo screening and surgery while she didn’t. We talked to a counsellor, who said these feelings were not uncommon with families who’d undergone genetic testing. My daughter has worked though it now and is fine, but this was a side effect of testing we did not anticipate”.
“Although the results of the test didn’t change my medical management, it did make a difference with my children. It was a real relief to me to know that my daughter did not have to go though surgery. In our situation, knowing this information has been beneficial. We were able to determine who was at risk in our family and who was not”.
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