A selection of very personal stories from people with Lynch Syndrome and their families.
We hope they give you support and encouragement in your own journey
We would like to thank those that have submitted their story here
Feeling tired is a side effect of being a busy Mum of three, working a full time job that entailed nights, early morning and long days, couple that with a husband that works away for half of the year, I didn’t even bat an eyelid!!...
I had been having trouble with a ‘pile’ I tried everything the doc threw at me, even during my pregnancy with my last child, the midwife commented on it. Fast forward two years later and the pile was still there!!! Enough was enough so I visited the doc and demanded to be referred to have it banded.
After the hospital visit, a trip to the day unit and several tests I was told I had cancer. The ‘pile’ was in fact the tumour protruding outside of my bottom. I was 33 years old.
Things moved pretty quickly, my permanent stoma (Quasimodo) was formed and I started on a clinical trial of chemo and radiotherapy as my odds weren’t too good and my oncologist said that it would be my best fighting chance. Whilst I was going through my treatment, my little sister was diagnosed with bowel cancer and so was my Aunty.
My oncologist and consultant wanted me to undergo genetic testing because of my age and I was diagnosed with LS with a MSH2 alteration.
I have recently consulted with the gynae team to have my womb and ovaries removed but because of the extensive damage from radiotherapy the risks of surgery are too high so have opted to undergo regular screening and CA125 blood tests.
29 members of my close family have been tested so far and 15 have LS and there are still close family members still to be tested so only time will tell how many more will be affected. Lots of extended members of my family have also been tested and have been found to be positive too but the number keeps growing and the true extent is still uncertain.
The good thing is now we are aware and now we have the chance to hit the ground running and get one up on LS because we know about it. LSUK is so important to me and gives people the chance to fight back and take care of their health, as we know that early detection saves lives. I don’t want to see another family go through this and lose people that they love and care about so if sharing my story prevents this, I’m happy to share.
We had such a good life, 3 great kids and after 10 years of being together and creating our family and home, we married!! ...
I was working away at the time and after speaking to Tracy, she explained that she was having some problems and was going to see the doctor. she had been back and forth a few times and was getting fed up with it. She rang me later that day to tell me that she had finally been referred to a consultant. Good news, they could sort out her problems.
When my wife was diagnosed with Cancer it was a massive shock. I just felt lost, worried, angry and confused but most of all I felt useless that I couldn't do anything, all I could do was stand and watch Tracy go through it. At 33 years old, its not something you expect to be told and it was a tough time for us which could have been avoided if her symptoms hadn't been dismissed because she was deemed too young to have bowel cancer.
She had chemotherapy and radiotherapy which I could see was gruelling on her but we kept her spirits up and she had a real positive attitude through it all. She was lucky because of great doctors looking after her but she almost lost her life to this terrible disease, something that no family should go through.
During all the treatments and surgery, she had to undergo genetic testing and was diagnosed with Lynch Syndrome. Neither of us knew what it was and were told it was a rare genetic disorder. Again a big shock but we knew together we could work through things, for better or worse.
At the time because it was rare, we didn't receive very much information about it but over the years we have found out more after researching about things ourselves.
I completely support Tracy's work, I kind of have to because she is a stubborn so and so and once she gets something into her head, she runs with it. All I know is that, we, as a family, want to help raise awareness wherever we can in order to protect our family.
I know Tracy as a person will go to any lengths to protect us and other families going through this. She has lost some very important people in her life and doesn't want anyone else to go through that.
Having noticed a few of the classic symptoms of Bowel Cancer for a while ,although intermittent, gripping pains in my stomach finally made me visit my GP. Thankfully he took my symptoms seriously even though I was only 37 years old. A routine blood test and a occult blood test were ordered.
On my follow up appointment all my tests came back as normal and my GP diagnosed IBS. I was just about to walk out of his office when something clicked in my head and I spoke up that I wasn't happy with that diagnosis. He then agreed to put me on the 2 week pathway to see a consultant for further investigation.
An appointment to see a consultant came through quickly and he was very rude telling me why on earth are you here? you're are too young and can't possibly have cancer and I was wasting his time while other people were in need. As I was on the pathway he had little option but to send me for further tests.
Well the day of the test came and it was all light hearted chit chat when suddenly the mood changed an the TV monitor was turned away from me while they all pointed and chatted. Obviously this concerned me so I asked at the end if everything was OK? To which she replied we can't possibly say that until she has written her report, alarm bells were starting to ring in my head,
I went to work the next day and convinced myself I' had imagined most of what I remembered. When I returned home a message was on my answering machine from CT appointments requesting to ring them. It was a Friday night so I had to stew all weekend before I could ring on Monday.
Well the rest is a blur but suddenly I found myself very quickly in hospital facing surgery for bowel cancer! The operation was attempted key hole but converted to formal because of problems. I was in theatre for close on 9 hours.
I escaped from hospital after a week and recovery was long and hard after a few complications.
Since I was staged at stage 3C I had six months of chemo with very few side-effects and the time just flew by. I'm now over 10 years post surgery.
Fortunately my Aunty was sent for genetic testing after having womb and bowel cancer which is where they found LS so a simple blood test confirmed I also had MSH2.
Since I have received very good care and my consultant still sees me every year. I've had a few problems with a stubborn polyp which was sorted out but I came very close to a 2nd bowel resection because of it.
So this is my story so what can you learn from this? Well Cancer didn't hurt very much at all but the treatment was hell. Screening can be uncomfortable but I'd take that option every time over the physical and mental torture of having Cancer.
Screening is vitial and not always forthcoming but your life could depend on it. Always be polite but firm if you need to
One day soon LSUK will ensure our rightful care for us all but until that day arrives take care
In August of 2011, I started to feel unwell. I'd had some bloating in the evening and felt tired and sluggish but nothing like I started to experience then. I felt awful all the time no energy, Bloating, stomach pains and I looked green!
My GP diagnosed IBS and off I went with tablets and a challenge to change my diet. Though what I was going to change I didn't know as I was one of those 5 a day healthy eating freaks.
From August until December I visited my DRs every 2 weeks trying to get them to understand how ill I felt. I was told to stick with the tablets and keep changing my diet. I did manage to get them to arrange for a scan to rule out ovarian cancer as I sat in that room and said I wouldn't leave until it was arranged.
The scan was performed and I went to the GP to get the results and happy to hear nothing to worry about. So I sat there and went through my usual list of ails and then casually (it was really a throwaway comment as I was getting frustrated) I had spotted a little blood in the toilet so thought I had piles to add! She performed a digital exam there and then and boy did she change! A form was handed to me to pass to the receptionist to fax to the hospital.
on 15th Dec I had my Sigmoidoscopy and was told " yes there's something there we've taken biopsies' and we'll be in touch" I wasn't worried I thought well it's polyps.
I had a friend that worked with a bowel specialist and he badgered me to get a referral letter to see this Consultant. so On 22nd Dec, I popped along to my GP to get a letter. There he greeted me with “yes, you're very young to have this kind of cancer!!!" I had Rectal cancer and this was the first I'd heard.
January 2012 saw the start of Chemotherapy and radiotherapy to shrink the tumour. April saw the full resection to remove the tumour and bits of the bowel. And also to form my mate Cecil (ileostomy). My tumour was classed as a Dukes C So six cycles of Chemotherapy was recommended. This was possibly the worst time of all my illness. The Oxaliplatin was a horrendous experience and I don't want to have to go through that ever again if I can help it. November was time to say goodbye to Cecil and rejoin my bowel.
Then in April 2014 after what seemed like forever I got the letter that told me I had Lynch Syndrome. Well, I'd read little bits and pieces about Lynch Syndrome but could mostly find USA based information. Then I came across the Lynch Syndrome UK Facebook page. This is what I wanted and this is where I have found out so much knowledge that I have been able to use and am planning to take to my GP to continue my staying one step ahead of Lynch Syndrome.
January 2015 saw my Total Hysterectomy. It took 3 appointments from June 2014 up until October 2014 to get the go ahead but it was a choice I'm glad I've made. My family was complete. (I have a son who has LS and a Daughter who has not). Radiotherapy had put me into early menopause so as far as I was concerned it was better out than in!
I am now feeling really well. My next plan is to arrange my endoscopy as we believe the LS in my family came from my dad who died of stomach Cancer aged 45.
My own journey with LS started back in 2003/4 after we (family) received news from my eldest brother in Australia saying that we should be tested for HNPCC as lynch was then called, the news arrived just in time for my elder brother and younger sisters, although not tested for the gene, in quick succession all three underwent surgery for varying cancers, had the news not arrived when it did I would not like to contemplate the outcome.
Around the same time, I had gyno problems that showed abnormal cells, so it was decided that with a possible HNPCC/Lynch diagnosis and my sibling’s cancer that I should have a hysterectomy.
Fully recovered, it was time to see if I had the gene – simple I thought, turn up have some blood taken and a few weeks later get the result – How wrong could I be…?
Simple?, are you are kidding me?... firstly one has to speak to a counsellor, why the hell do I have to explain my reasons to a counsellor I will never know, I was not impressed, I can’t do with the nanny state of thing’s, I certainly don’t need my hand holding and questions like – ‘are you sure that you want to know?’, - ‘of course I wanted to know’, I had already had a hysterectomy on the premise that I might have the gene, my siblings had had cancer so which bit of ‘take the blood and tell me’, didn’t I mean, which bit didn't they understand?, whatever I had had been there since conception, if I had the gene there was nothing I or anyone else could do or say to change it, knowing wouldn’t make me ill but not knowing could kill me. After a very frustrating half hour of my saying ‘just take the blood’, they did.
Then there is the indomitable wait of weeks, months and the letter arrives to contact them, - great I thought, now I will get the results, but 'NO', they couldn’t or wouldn’t give it to me over the phone - I think at this point the air might have turned blue!, would I go to Manchester for the results – of course I would, why not go on a four hour round trip to hear something that could all have been relayed to me in a two minute phone call.
Once I got there, I reiterated that I really did not need counselling, no matter how well intentioned, I was quite prepared for anything that they had to tell me and nothing they could say would change the result, in the end I just said 'tell me and I can deal with it', 'tell me and let me get on with the rest of my life’.
I am not a victim and refuse to be treated like one; I refuse to be defined by a diagnosis.
It may not be the way everyone deals with things, but that’s the way I approach it. I do not spend my life dwelling on the ‘what ifs’, I do live in the moment and as a dear friend once said ‘none of us is promised tomorrow’.
I am humbled and amazed by the stories I have read so far, the fortitude, resilience and zest for life is inspirational.
What I find most upsetting is the lack of regular standardised screening across the country, life would be a lot easier if healthcare professionals were more informed about LS, and it would actually be nice to just once, walk into a Gp’s surgery or the endoscopy department and for them to know all about LS.
No amount of counselling will keep me cancer free but regular screening just might.
Hi there, my name is Fiona and I have lynch syndrome...MSH2 gene. I have a brother who had bowel cancer at 40 and 50...he is a survivor. My father died in his early 40s as did his sister at 32, they had a brother who died of non-genetic bowel cancer.
My grandfather also died of bowel cancer in his 40s. My cousin had bowel cancer in his early 40s and is also a survivor. I have had cancer if the upper lip at 32 and have had yearly colonoscopies for the last few years due to polyps being removed.
Last year I had a cyst removed that had cancer cells present. In January this year I had my bowel electively removed as I was daunted by the possibly of 30 or more colonoscopies that were getting more painful every time. I have 3 daughters; my eldest is awaiting her results. I am a lynchie and in control
My brother was diagnosed with bowel cancer aged 34, 39 and 42, which is when he had genetic testing and was found to have LS. My parents were tested, mother positive so I was then tested and positive too.
I was diagnosed with bowel cancer in August 2013, surgery in October and horrendous chemotherapy in December, which resulted in me being hospitalised every session. Since then I have undergone two additional operations.
My mother was diagnosed with bowel cancer in November 2013, surgery then chemotherapy, at the same time as myself.
Unfortunately since our diagnosis my Brother has undergone a huge operation to remove his bladder, prostrate and everything situated in his pelvic cavity, and we were given the news in August 2014 that he probably only had 12 months left to live.
My sister and daughter have tested positive too.
I joined LSUK Facebook support page to gain information from others with LS and did not hesitate to become involved with the setting up of the charity, so that I could help raise awareness and hopefully stop other families going through the same heartbreaking experience as mine.
When I was 5 my dad was diagnosed with Bowel cancer, he was 31, luckily he survived and was healthy until I was 23, when his cancer returned. After a lengthy fight, he once again beat it. After two bouts of skin cancer over the next few years, the old enemy returned, and this time after a courageous and lengthy fight my dad died, 21st June 2011.
In the summer of 2014 I started having lots of heavy bleeding and discharge, I visited the doctors, and was diagnosed with pre menopausal symptoms, I was 43, so fitted into this bracket. Over the next few months, I visited the doctor numerous times unhappy with this diagnosis, and with worsening symptoms. Eventually I was referred to the hospital for a hysteroscopy, which was very painful and not very successful, this resulted in a few abnormal cells being discovered.
By this time I was in so much pain that living a normal life was becoming impossible. I then waited 10 weeks for a hysteroscopy under GI, and to every bodies surprise (except mine who had guessed what was wrong with me by then) I was diagnosed with stage 2 grade 3 (serous carcinoma, and clear cell) endometrial cancer with a tumour protruding from my cervix. After a very difficult and long operation in February 2015, the surgeon managed to remove the whole of the tumour, and I had a total hysterectomy. 18 weeks of chemo, and brachytherapy later, I have now been cancer free 9 months!!
At my first oncology appointment my consultant asked if there was any cancer in the family, and after hearing about my dad referred me for a genetic appointment. My family carries the MLH1 mutation, and my brother has since been tested and was also positive. I'm so glad to have found out about lynch syndrome, not knowing doesn't change the outcome, and knowledge is power!! Both my brother and I are in screening programmes and my consultant has promised me I'll never be off their radar!
My husband Drew has MLH1 Lynch Syndrome. I suggested he add his story here and he replied 'oh no, you do it'. So here it is. In 2012 he had a colonoscopy and we were told straight afterwards that they couldn't get the camera past the first section because of a tumour and it was cancer. We hadn't believed the IBS diagnosis, and all the iron pills he was given for unexplained anaemia had made no difference. He'd been assured 'you're too young for bowel cancer at 50'. The GP later told us that had Drew been over 60 he would have been sent for a colonoscopy within weeks instead of waiting many months for an appointment. Although once in the hospital system things moved quickly. A CT scan showed up a second tumour on his other side and he had surgery to remove his colon. It was stage 3B and Drew had 6 months of chemo ahead. We'd never heard of HNPCC (now called Lynch syndrome) but because there were 2 tumours and his age they tested for it. There was no known family history of colon cancer and his mother tested negative so we assume it was inherited from his father who had died from an unrelated illness aged 32.
Drew had completed 3 months of chemo when he suffered a cardiac arrest (when the heart stops from a fault with the electrics). It was August 2012 and he'd just walked into Hyde Park to watch the Olympic triathlon. Fortunately bystanders helped him and called 999. Paramedics who were already in the park for the event arrived and managed to restart his heart after 4 shocks with a defibrillator. He was rushed to hospital and also had serious complications with blood clots which may have been caused when drugs were injected to try and restart the heart. Anyway he recovered from all that and now has an ICD (a personal defibrillator in his chest). After more genetic tests the doctors said he was very unlucky to have inherited a second condition (but unrelated to Lynch) that can cause sudden dangerous heart rhythms! However, survival rates for an 'out of hospital' cardiac arrest decrease rapidly with each minute that goes by so we know how lucky he was to have been in the park and revived by the wonderful paramedics.
After seeing how ill Drew was through 2012 I didn't imagine he could be where he is now just quietly getting on with life as normal and achieving what he wants to do. In 2013 he ran the Royal Parks half marathon (to my horror!) which he is planning to do again this year right past the very spot where he 'conked out'. He also loves cycling and has just done the 100 mile Ride London. He has regular checkups and is on the CAPP3 trial. It has taken a few years for his digestive system to adapt to working with no colon but it has been slowly improving so he can eat most things now except for some raw fruit and veg. We don't know yet if our 2 children have inherited Lynch or not but I think they can be inspired by their Dad's positive attitude and determination to just do ordinary stuff despite some pretty big challenges. Also if they have knowledge of having Lynch hopefully problems can be detected early on through screening.