'I get on with my life as normally as I can': inherited bowel cancer
Joanna’s diagnosis of attenuated Familial Adenomatous Polyposis (AFAP), and the implications for her family.
In September 2007 I visited the practice nurse at my local health centre as my ‘routine bloods’ were due. It was found that I was iron anaemic and a re-test was ordered in November. I was still anaemic. My GP asked if I had ever seen blood anywhere. Well, back in June I had noticed a little blood in my stool which happened two days running and then went away, so apart from making a note in my diary I did nothing else about it. However, this set alarm bells ringing with my GP and he faxed the colorectal team at my local hospital. A sigmoidoscopy was arranged for Christmas Eve. This revealed no problem so a colonoscopy was arranged two weeks later. At the colonoscopy it was found that I had multiple polyps - too many to remove in one session and I would have to return another time. Several biopsies were taken and two larger polyps were retrieved for biopsy. Apparently only one of the latter made it to the lab. I came home clutching a booklet I had been given about polyps in the bowel. This told me that that it was unusual to have more than two polyps and very rare to have more than five. I looked up multiple polyps on the internet. I saw that multiple polyps in the colon were connected to genetic disease. This was the first time I had heard of Familial Adenomatous Polyposis. Anyway, I didn’t have hundreds to thousands of polyps and I hadn’t died of colon cancer at forty so I couldn’t have that! I had an out-patient appointment with the consultant in February when he informed me that one polyp had had a cancerous head. I had been very fortunate as it had been caught in time - the base of the stem where it was attached to me was still OK so there was no danger that it had spread into the bowel wall. I would have a close eye kept on me and if anyone was to be safe from bowel cancer it was me. The consultant indicated that regular colonoscopies would be required and that he would do these himself since ‘a skilled hand’ was required. Although a little in shock I felt re-assured.
On the way home from the hospital I realised that I ought to have asked if there were any implications for any of my family. I have a twin brother who lives in the States. Knowing (from researching polyps on the Internet) that a colonoscopy check up is advised for all Americans over the age of fifty I rang to enquire if he had had one. His wife answered. She had had a colonoscopy and was clear. No, John hadn’t had one - he didn’t want the hassle - but after hearing my story she would make sure he would get one now! Not realising there was any hurry it was April before he went for his appointment. His wife accompanied him and she was concerned when she saw many other patients going in after him and coming out before him. Fearing something was wrong she went to enquire. He would be ready shortly and the gastroenterologist would talk to them soon. As soon as John had come round from the sedation the specialist wasted no time in telling him that he also had multiple polyps, this looked like a genetic disease and he would require further tests. An appointment was made for two weeks later. The consultant informed John that the polyps showed severe dysplasia. He almost certainly had attenuated FAP (AFAP) and would need to have his entire colon removed to avoid bowel cancer. A blood sample was taken and sent off for genetic sequencing. Since this disease can also cause other cancers he would need to have an upper endoscopy. I added ‘attenuated’ to my internet search and my heart pounded when I read the account of AFAP. Three weeks later John went for an EGD [Esophagogastroduodenoscopy] (an OGD - oesophagogastroduodenoscopy - in the UK) with front and side viewing instruments. Disastrously, this revealed that he had a ‘sunken polyp’ in the ampullary region. After going on vacation he had another appointment with the consultant. The polyp could not be removed during the endoscopy and would need closer evaluation with an ultrasound endoscopy.
I realised the implications for me in all this and wrote to my consultant, outlining everything that had been happening with my twin brother and the diagnosis and wondered if I too ought to have an upper endoscopy and please could he discuss this with me. In reply I was offered an outpatient appointment for September. A whole three months away! John had his endoscopic ultrasound and a CAT scan. Four days later he was informed that there was a tubular adenoma on the major papilla and he would need Whipple’s surgery to remove it! I wrote to my consultant again expressing my worry about having to wait so long in the light of my brother’s problems and updated him on these. A week later my consultant’s secretary rang to say that my colonoscopy could be brought forward if I wished. I explained again about my brother - he had now been confirmed to have AFAP and that I too was very likely to have this same disease and I was very concerned about duodenal cancer and that it was an upper endoscopy that I would like. She requested a copy of the gene test result which I immediately emailed. A week later I received an appointment for an upper endoscopy together with a colonoscopy to take place in two weeks hence. Meanwhile, I visited my GP to request genetic testing. This GP was most unhelpful. He seemed not to listen to any of my concerns about myself in the light of my brother and made comments like "just because your brother has this it doesn’t mean you have it too"; "Just because they do that in America, it doesn’t mean they’ll do that here". I made another appointment to see a different GP at the practice. She was reluctant to arrange for genetic testing because I was under the hospital consultant but finally agreed because I was persistent and explained that I had been given no indication that my consultant was going to arrange testing - I was too upset and worried to give up.
The upper endoscopy was said to reveal no problems but multiple polyps were again removed from my colon and I would be sent an appointment for another colonoscopy in two months time. The out-patient appointment was cancelled ‘because it was no longer relevant’!? All this time I had had no counselling on AFAP - no-one even admitted the possibility that I could have the disease. I had turned to the internet for information and became an expert on the subject. I felt like sending some information to my consultant. Because I had heard nothing from the clinic after five weeks I rang to check if they had received the request for a gene test. I was not in the system yet but that didn’t mean that the request had not been received, but even once I was in the system the appointment would take an average of eleven weeks! As much as that? I have three grown up sons - the eldest is forty - what about them? I was assured that if they visited their respective GPs and related the problem they would not have to wait for my result - my brother’s would suffice. This they did and indeed their doctors were all very helpful and they all got referrals to hospitals in their areas for tests.
John decided to go to a specialist centre in another US city about a hundred miles from where he was living for a second opinion as he was unhappy with the prospect of facing two major surgeries. There the doctor, a world expert in this field, confirmed his worst fears and endorsed all the recommendations made to him by his consultant in Richmond. He stressed the importance of selecting an experienced surgeon and gave him a list of questions to ask - including "what is your fatality percentage?" Well, if John wasn’t apprehensive about the surgery before this he was now.
I also have an older half-sister, Carol, whose father was killed in action in the Second World War. She went to teach in Scotland and married there but sadly she is now widowed. I rang her and tried to persuade her that she too ought to visit her doctor and request testing. Because she had not had any symptoms and she felt she ‘took after her father’s side of the family’ it took several phone calls and a visit before she was convinced. My brother’s son and daughter were tested and were unfortunate to find that both of them had inherited the faulty gene.
John had his Whipple surgery early in September 2008. The surgery appeared to go well though it would take a while to recover. The surgeon was confident that he had removed all of the cancer and it had been caught before it had invaded any other organ (in spite of describing it as aggressive) so he would not need any chemotherapy. I arranged to visit after my next colonoscopy and before my appointment at the genetic clinic in November. After this last colonoscopy I had asked the endoscopic nurse how many polyps I had had. He looked back in my notes and said it didn’t say - it just said multiple polyps - and then the bomb-shell - "oh, I see what they have done. At the first visit your ascending colon was looked at. At the next visit they did the transverse colon and today they have just done the descending colon!" This really concerned me because I had learned that in attenuated FAP the polyps have a tendency to proliferate the ascending colon. There was I thinking that a close eye was being kept on me and now I find that my ascending colon has not been surveyed since my first visit! Only two polyps were found at this last colonoscopy. I wondered why they had left them behind at the previous visit. Now I knew. What was also worrying was that a photograph of three polyps together had been taken at that first visit and I know that these had not been removed because I was conscious throughout the whole procedure and this was where they ran out of time. I had assumed that these were removed at my second colonoscopy but now I am not at all confident of that. Later I received a letter to state that I would be sent an appointment for another colonoscopy in two years’ time - still no out-patient appointment and no opportunity to ask questions about AFAP.
Unfortunately, after being at home for ten days John developed an abscess on his liver and was taken back into hospital. He was still in hospital and quite unwell when I arrived in the States but he made good progress and was discharged from hospital after a twelve day stay and we were able to spend some quality time together before my return home.
When my husband was made redundant, ten years ago, he decided to take up teaching. He already had a mathematics degree so he studied to get his PGCE to qualify him to teach sixth-formers. However, he could only find part-time employment and his hours were linked to pupil enrolment numbers. One year, when he had few teaching hours, he decided to occupy himself by doing some research into our family trees. This was now going to come in very useful. We decided that the faulty gene must come from my mother’s side of the family since they had all died young and my father’s family were all long-lived. Also my maternal grandfather had died of colon cancer aged fifty-six. My mother died of an asthmatic attack aged sixty-seven. She had been brought up by her paternal grandma because her parents split up when she was a toddler. Her mother was pregnant with her brother at that time so he was brought up by his mother. Even though the two families lived in close proximity there was almost no contact between brother and sister. My mother was aware that her brother had married and that he had a son, George, who later worked at a small department store in the town centre. On one of her visits here my sister decided to visit the store where Mum’s nephew George worked to see if she could spot him. She saw this man who ‘looked just like Mum’ and introduced herself to him. They exchanged ‘phone numbers and from then on they had occasional contact by ‘phone. I suggested she perhaps ought to contact him and let him know about AFAP. At this stage she was still in denial about the disease and was reluctant to ‘phone. When she eventually rang our cousin, George, he told her he had been treated for multiple polyps seven years ago at age forty-two and was now experiencing chronic diarrhoea and was due to have another colonoscopy after seeing my consultant! He also had a younger brother. Their father had died of heart disease aged sixty-four.
My appointment at the clinic finally came. The geneticist was delighted with the family tree and was 99 ½ % certain that I had FAP. (She said that most specialists are now dispensing with the word "attenuated" because of the gravity of associated cancers.) I asked if I could be transferred to somewhere that knew about this FAP and she agreed to refer me to an experienced consultant at [another hospital]. Confirmation that I also had the mutated gene took only two weeks and I got an appointment with the specialist consultant just before Christmas. The registrar took my background then the consultant walked in and said that with my history my colon needed to come out! Even though I knew this was always recommended in America it still came as a shock because my GP had said they don't do that over here, the geneticist had said they don't do that so much over here and my local consultant had certainly never considered this. To look on the positive side it is all very fortunate that I had that routine blood test. My brother was just in time for surgery. It was an aggressive cancer that would have been too late to operate on once he had symptoms and things could have been much worse for me if he hadn't got someone who was knowledgeable about all this.
My oldest son’s result came back negative! How thankful we are about this.
In mid January 2009 I was assessed for surgery. The good news was that my consultant was happy to retain the rectum as it was in much better condition than he had expected. This should give me a better quality of life than having a J-pouch (an artificial rectum constructed from part of the small intestine and the usual operation for FAP).
Unfortunately, both my youngest son and my middle son have inherited the mutation, also my sister. They have all had their first colonoscopy and each has been found to have just two small polyps. They will need regular surveillance. My sister’s three children have also been tested and all are positive. Between them they have had sixteen polyps removed. John’s daughter has had three polyps removed at her colonoscopy and his son has had eighteen polyps removed! I had my surgery on the 23rd April - exactly a year after my brother had his colonoscopy and received his diagnosis. I was admitted on the 20th to have some intensive chest physiotherapy beforehand as I have bronchiectasis and have also had surgery to remove half my left lung. I received excellent care and left hospital just two weeks after my operation feeling well enough to dispense with pain medication and to call at a carvery on the way home for lunch!
At my out-patient appointment in mid July I learned that my surgeon was very happy with the histology report on my removed colon. The 30-50 residual polyps had not given any cause for concern since they exhibited only mild (or was it mild to moderate?) dysplasia. This did concern me, however, because had I remained with my local hospital these would not have been looked at for another two years and could, presumably, by then have developed further into a more worrying state. Also, there would have been another two years growth of more polyps and there would again be too many to remove. My surgeon was happy with my progress and I have been discharged from the hospital.
I get on with my life as normally as I can. There have had to be some alterations to my diet as I can’t digest certain foods and I must always know the location of the nearest loo. I go to the loo more often than I used to, although I don’t count the number of times or fret about it. I do get up twice and sometimes three times in the night, breaking my sleep, and I am aware that I feel more tired than I used to, but as far as possible I don’t allow my lack of a colon to interfere too much with daily living. I try to keep positive and get on with life, praising God that we have all come through this experience and are wiser because of it.
I decided to write to my local consultant and included some information about FAP and its attenuated version. I also expressed my concerns that:
- I had to request gene testing myself from my GP even after informing him about my brother’s diagnosis
- I had no-one with whom to discuss this disease and its implications
- I was not asked about other family members
My brother says that I have saved his life but he cannot say the same. Six months later (after telephone calls and email enquiries) I received a letter in which he (the consultant) admitted that he ought to have considered genetic testing but otherwise felt he had made the appropriate response. I only hope that other patients will benefit from the information I gave him. I realise that FAP is a rare condition and that its attenuated version is rarer still, but if I could find out about it on the Internet why couldn’t he and my GPs do so too?
My nephew in America has had another eighteen polyps removed and has been advised that he will likely need a colectomy sometime during the next two years. My nephew in London has also been given this same news. Surprisingly, my estranged cousin George tested negative!
In December 2010 I had an upper endoscopy which detected multiple small polyps in my duodenum. They were too small to be of any concern yet and I will receive another appointment in two year’s time. I haven’t had an appointment for a sigmoidoscopy since my surgery though I know that it is recommended and I have informed my genetic clinic about this.