Diane’s story: the need for information and support to deal with a diagnosis of inherited bowel cancer
Familial adenomatous polyposis: a dominantly inherited condition
My mother died aged 57 from bowel cancer. At the time that was all the information I had. I was in my 20s and very naive about her whole situation. She was very protective of her family and didn’t want to worry or upset us (I have one brother who is 6 years my junior).
Shortly afterwards I moved to another area and while my new GP was taking my medical history mentioned that bowel cancer can be hereditary. We discussed screening, but I was not interested at the time.
A few years later I had married and was ready to start a family. I decided I had better have the screening before I started in case there were any problems.
I went for annual colonoscopies which always showed a few adenomas. I never saw a consultant during the 4 years I was screened. My own GP was very vague and just said “we will keep an eye on them”. In my ignorance I suppose I believed that because I was being screened I would be safe!
However in 2002 the results showed 200+ polyps in my bowel and suddenly I was seen by a consultant who originally said he could remove my colon and stick it straight onto my rectum – no problem. Although it was a big operation I was reasonably calm.
On the day of the operation he decided to look at my rectum and discovered a very large, flat polyp there. This meant he couldn’t to original operation and I would need a temporary ileostomy and an internal pouch. I would have to be referred to another specialist in another city and it could take weeks.
I was devastated, I had made all my arrangements for my family during my recovery and now I would have to reschedule. Familial adenomatous polyposis (FAP) was mentioned at this stage, but I didn’t receive any more information.
It is difficult to put into words just how isolated I felt during that time. I didn’t have internet access and couldn’t find much information from books. My stoma nurse was great with the practicalities but couldn’t help me emotionally.
I recovered well from the surgery but no one spoke about the condition responsible for it. 3 years down the line and I feel the same. Luckily now I can research on the internet. Recently I have spoken to a wonderful geneticist who explained my disease fully to me. Unfortunately my consultant led me to believe that if I had a colectomy my risk of cancer was nil. However since then and having researched the disease on the internet I now discover this to be misleading and in fact there are many other complications of having FAP.
My consultant has neither the time or shows any interest or knowledge of the disease therefore I do not receive any support/advice from him. None of the nurses during my times in hospital asked me for the reason I need a colectomy and I am often met with blank stares when I try to explain my medical history.
As a result of my experience my brother was diagnosed with FAP also and has undergone his colectomy. I now realise there is a 50% risk that my 7 year old daughter has inherited the faulty gene. I am very anxious about her future. I am not convinced anyone at our local hospital will take my concerns seriously when the time comes to begin her screening( if that is what she chooses to do). I am trying to get all the relevant information so I can explain the situation to her in a few years time.
It would be wonderful to have someone qualified to speak to her as I am concerned I will make her worry and panic if I go about it the wrong way. I am an adult and have managed to cope with this on my own, but I do worry about how all this information will affect my child.
Later, Diane added to her story:
Regarding the feelings of guilt I have, I am finding this difficult to put into words.
On one hand I feel awful that if she has inherited FAP she will have to endure major surgery and a life readjustment, on the other hand I am thankful that the genetic testing which establishes if FAP is present in a fetus was not available while I was pregnant, as I cannot imagine my life without my daughter. Obviously I did not even know that I had FAP until 3 years ago therefore that is probably irrelevant!
I can only hope that there is more support available to us as a family when the time comes for her to decide if she wants to be tested.
When I look at my daughter my heart swells with pride, she is beautiful, clever and full of life, then in the back of my mind is the nagging guilt that I may have passed a terrible disease on to her.
Even the thought of the future brings me to tears, it is a subject that I have learnt I cannot afford to dwell on as her life is perfect at the moment and my priority is to make her childhood as happy and secure as I can.
With regards to my feelings when the nursing staff didn’t know about my disease, it would have been wonderful if, even if they didn’t know any facts about it, to try and find someone I could talk to. It wouldn’t have to be in person, by phone or email would have been wonderful too. I had to wait 2 years to speak to someone qualified.