Hereditary cancer and lack of screening in uk

[DNAP]

Sorry for the long post, but I’m a little confused and slightly peeved!
I’m 51 and due to issues I’d been having over the past few months, and a strong family history for bowel cancer, my new GP referred me under the 2 week wait. Previous GP wasn’t concerned, so I left it for a while, and returned after I had a strange bleed 3 weeks ago. Am post menstrual so it was odd. My late mother’s consultant of 20+ years ago, suggested we had genetic screening for possible lynch syndrome, as my mum had two separate primary cancers, bowel and throat, first at 48, and again in her 50s. Her dad passed at 42 from stomach & bowel, her brother at 52 from bowel & kidney, her father’s mum at 40 from uterine, her father’s sister at 44 from ovarian. All cancers that are strongly suggestive of Lynch syndrome, HNPCC. My cousin in the US, is regularly screened, and his doctors have been very switched on to the family history risks, and are so proactive. Here however, nobody seems bothered! My mother was diagnosed with her bowel cancer after 2 years of issues being dismissed as IBS, and it was a frank bleed that finally got her to hospital, where unfortunately it was already terminal. Similarly her brother took a long time to get diagnosed. Again too late.
When I’ve asked about screening in the past, it’s been skirted around as a non issue. If you have a problem, just let us know....so fast forward a few years to now, and I’ve just seen the consultant from my urgent referral. Waited 2 hours for a 5 minute appointment. He was rushed, brusque and very brief. Having quickly explained my issues, and asked me about my family history, he immediately seemed to discount everything as insignificant. He almost seemed irritated as I was listing my relatives...a wave of the hand and ‘that’s enough’. He then remarked that ‘They were different cancers, not just bowel, so it may not mean anything.’ Which surprised me, as in the US, my cousin’s doctors seem to take a very different approach!
The consultation ended abruptly with him saying he didn’t think I needed a colonoscopy, as he doubted very much he’d find anything. And I am too young for him to be concerned. When I pointed out that I was older than my mum when she was diagnosed, he seemed shocked at my age and had to double check my date of birth!
So in and out in 5 minutes. No examination, other than looking towards my jumper when I talked about the bloating, and commenting that I looked slim. Didn’t want to see the images of my stomach with it’s lopsided distension and visible waves of movement. (I’m lifelong 8stone and was always blessed with being flat!) Didn’t seem to think my daily bouts of left sided pain was anything unusual. Just didn’t seem bothered at all! So I’m being ‘downgraded’ to a scan. Because he doesn’t think there is anything to find... Has anyone had similar issues with screening or getting a diagnosis on something? I thought things would have improved in the years since my poor mother was around, but seemingly not!
On the other hand, my cousin had private insurance, and when she had a problem, she was seen within 2 days, and by the end of the week was diagnosed and started treatment right away. It really saved her life.
I know it may well not be anything, but unless they have a proper look, how will they ever know? Would appreciate anyone else’s experiences with this, particularly if you have similar family history. Thank you x

Hi,
That seems very poor treatment from the consultant and I would push to see someone else.
I too have a large family history of cancer on both my mum and dad's sides of the family and two of my sisters have had breast cancer, however I was also told that it was very unlikely to be genetic.
However, in December 2016 I visited my GP as I as having symptoms linked to anemia - which I had had previously. A blood test was taken resulting in a phone call to say that I needed to have an endoscopy and colonoscopy as my iron levels were very low. This was not undertaken as a matter of urgency though and I duly attended at the end of February 2017 expecting everything to be clear.
Unfortunately, this was not the case and I was found to have colon cancer - although luckily discovered at a very early stage. Following an operation to remove the tumour, I was told that bowel tumours were routinely being tested for Lynch syndrome. I was very concerned as I had never heard of this before, but the consultant put my mind at rest and told me it was very unlikely I had it as colon cancer wasn't prevalent in my family history (as far as I knew) and again, the cancers were mainly of a different sort.
Fast forward to December 2017 and a routine follow-up appointment with my nurse specialist where I discovered it was very likely that I did, in fact, have Lynch syndrome. More waiting to see a geneticist in April 2018 and a blood test for a definite diagnosis. In June last year I was told the results were positive and the mutation I had.
I have just had a preventative hysterectomy and will have a colonoscopy every 2 years, along with a few other routine check-ups.
Although, of course, I would much rather not have this genetic mutation, it has been with me since birth and nothing I do can change that. However, by having regular screening I have the best chance of catching anything nasty at an early stage.
There is a Lynch syndrome facebook group and the members on there have a lot more knowledge than I do, if you want any more information - Lynch Syndrome UK

Have you looked into getting privately tested for the mutations most commonly linked to Lynch syndrome, OP?

I am surprised at that OP - my family have Lynch syndrome. I've elected not to have the genetic test for now, but can still have regular screening. With your symptoms and family history I'd be pushing for a colonoscopy and pelvic ultrasound.

Thank you for all your replies, sounds like you’ve had quite a journey Mum2, thanks for sharing this. Very interesting. The lynch criteria are quite specific and do include extra-colonic cancers such as stomach, endometrial etc., and having more than one primary cancer, is also suggestive of a genetic link, so I am really quite surprised at how dismissive this doctor has been. My cousin in the US is also routinely scanned every 2 years, and has been for quite some time. Apparently colonoscopy is the best method for ensuring nothing small or flat areas of cell change are missed, as these can escalate quite quickly, yet this doctor today seems to think a scan would suffice. It doesn’t exactly offer much reassurance for the next few years, as I’m sure having a full colonoscopy done regularly, must surely do. I agree it’s better to be at least aware of our history and any potential implications, as it allows you to take a more proactive approach, without being over anxious about it all. I’m thankfully quite rational where my health is concerned, but I do find this dismissiveness quite surprising, and slightly unnerving!

I was actually looking into lynch syndrome tonight (had colon cancer last year and just been referred for genetic testing). I came across these guidelines for screening in Canada geneticseducation.ca/educational-resources/gec-ko-on-the-run/colorectal-cancer-lynch-syndrome/. I know UK policy might be different I can't see why you are not getting a colonoscopy with your family history - obviously I'm not a medic though, can you ask for a second opinion?

Ask your GP for a referral to a clinical geneticist about the family history.

Healthcare in the NHS is appalling. Sorry. If you have any opportunity to have medical treatment in a different system (could you afford private/have a different country you could move to) I suggest you do so. If not just be very persistent until they finally cgeckbyou our properly.

Routine bowel screening starts in UK at age 55.

It does sound as though you have been particularly unlucky to see a surgeon whose bedside manner /communication skills are so lacking.

You can be referred for colonoscopy by your GP at any age, and (in my area at least) you do not see a consultant until the results are available. In your shoes I'd be going back to the GP and asking specifically about Lynch Syndrome and to whom you need to be referred (geneticist?)

I come from a family with Lynch and myself need to gain the courage (after a huge move overseas and various other life changes) to go and get tested. OP your family history sounds identical to that experienced on my mother's side of the family where almost everyone has the mutation. Happily everyone who has experienced either colon or endometrial cancer has had it caught early and doing well. All but one were diagnosed pre Lynch confirmation, but it was these multiple cluster of cases that sounded the alarm. I am now 40 and promised myself to 'get on it' during this year. I am so sorry you've had poor, almost incompetent responses so far, and wish you luck with getting the right pathway for what can be a very manageable situation.

Thank you for the link taytotots, a very good explanation of the Lynch criteria. Unfortunately the screening protocol doesn’t seem as inclusive here, as you say racecardriver, the NHS falls short on many levels. We have family in both Oz and the US, and the care they receive is so proactive and thorough, it never ceases to amaze me. Of course there’s an element of premium to pay, but I’d happily do that to have peace of mind and know that the big stuff is properly dealt with, especially when you’re someone who never bothers GPs with the small stuff that seemingly clogs up their waiting rooms! It took me 3 weeks to get seen, and in spite of getting an ‘urgent’ 2ww pathway referral, I am effectively downgraded on the basis of a 5 minute chat, by a doctor who clearly doesn’t know much about Lynch and what it might entail. I’m not at the point of being unduly worried, I just feel it warrants a level of proactive care that having this aspect of potential risk might deserve. They might be good in the reactive sense, but when it comes to being proactive, the NHS certainly falls short. Thanks for all your comments.

It's 60 scaevola

In many areas there is a pilot scheme where you're tested at 55.
I was tested at 55 and nothing was found. At 56
I then moved house/county/doctors and they discovered I was anaemic. They sent me a faecle sample kit which came back positive.
It turned out I had Colon cancer.
I had Zero signs and it would never have been picked up until too late had I not mo ed house and had a health check at the new doctors.