Today (Monday 8 August) along with the Royal College of Pathologists we have published findings which show that people under 50 diagnosed with bowel cancer are not being tested for Lynch syndrome – a genetic condition that increases the risk of bowel cancer by 80 per cent.
Lynch syndrome is an inherited condition which puts people at a much higher risk of developing bowel cancer as well as increasing the risk of other cancers including ovarian cancer, stomach cancer and womb cancer.
Lynch syndrome is estimated to cause 1,000 cases of bowel cancer each year, many of them under the age of 50. Yet fewer than five per cent of people with the condition have been identified.
The Royal College of Pathologists clinical guidelines state that a simple set of tests, which can help identify people with Lynch syndrome, should be carried out automatically on all people diagnosed with bowel cancer under the age of 50 at the time of diagnosis.
Performing this type of test can detect people at greater risk of recurrence, informs treatment options and helps identify those with family members who may also have the condition and be at risk of bowel cancer. If you have Lynch syndrome there is a 50 per cent chance that your children, brothers and sisters also have the condition.
By knowing if people have Lynch syndrome, the patient and their family can be offered a surveillance programme to receive regular colonoscopy, which can reduce their chance of dying from bowel cancer by 72 per cent.
However, Bowel Cancer UK and the Royal College of Pathologists found that 29 per cent of hospitals across the UK do not test patients under 50 diagnosed with bowel cancer.
Of those that do carry out the test, only just over half (56 per cent) perform the test automatically as stated in the guidelines. In many cases, hospitals are even delaying the test until after treatment for bowel cancer with only one in 10 (11 per cent) testing prior to treatment.
Asha Kaur, Policy Manager at Bowel Cancer UK said: “Since we carried out the last Freedom of Information (FOI) request on this issue in 2015 there has been a 46 per cent increase in the number of hospitals testing those under 50 diagnosed with bowel cancer.
However, the guidelines have now been in place two years and there are still 40 hospitals in England alone not doing the test at all plus a huge variation in approach to testing across the UK.
We understand that a number of hospitals face challenges implementing the guidelines however many have developed innovative solutions and local approaches to overcome these barriers. Testing should be performed at diagnosis and that’s just not happening. We urge hospitals across the UK to work together to carry out this lifesaving test.
Lynch syndrome has a devastating effect on families and we hear every day how generations have been affected by cancer because of this genetic condition. But it doesn’t have to be this way. There is a simple and cost effective test that can detect Lynch syndrome and then place people in surveillance to help stop bowel cancer.”
Andy Sutton, father of Stephen Sutton who died at the age of 19 from bowel cancer and became a household name by raising millions for charity, said: “I know from personal experience how vital it is that every single person under 50 who is diagnosed with bowel cancer is offered testing for Lynch syndrome. I was eventually offered it but only after I had been diagnosed with bowel cancer second time round. So I was pleased to hear that 110 out of 156 hospitals in the UK are now testing for Lynch syndrome, but I’d like to see every hospital doing it.”
Professor Tim Helliwell, Vice-President of The Royal College of Pathologists said: “We are pleased to see that most hospitals have followed the College’s guidelines and routinely make available the tests for Lynch syndrome. While we recognise that there are barriers for some Trusts in being able to routinely offer testing, we would encourage local multi-disciplinary teams and commissioners to work together to see if they can improve take up of this vital test which may affect patients and their families.”
Bowel cancer is the UK’s second biggest cancer killer and the fourth most common cancer. More than 2,400 people under 50 are diagnosed with bowel cancer in the UK every year. While this is only five per cent of people diagnosed with the disease, there has been a 25 per cent increase in the number of under 50s diagnosed in the past 10 years. Nationally, three out of five people diagnosed under the age of 50 will be diagnosed in the later stages of the disease when chances of survival are lower.
Bowel Cancer UK and the Royal College of Pathologists will be submitting the findings of this Freedom of Information request to The National Institute for Health and Care Excellence (NICE) ahead of the publication of their guidance on testing for Lynch syndrome in October.
The charity’s work to to improve the identification and management of people diagnosed with Lynch syndrome is a core part of our flagship Never Too Young campaign.
(The findings are based on a Freedom of Information request which we submitted to 185 hospitals across the UK in May 2016. 156 hospitals (84%) responded.)
– See more at: https://www.bowelcanceruk.org.uk/media-centre/news-and-blog/new-findings-show-variation-of-genetic-testing-in-the-uk-could-lead-to-cancer-devastating-whole-families/#sthash.n4lYp5fw.dpuf
A survey from Plymouth University for people with a Family History of Bowel Cancer
Some families have an inherited vulnerability to bowel cancer which runs in the family. When someone is found to have an increased risk of cancer like this, their doctor may suggest that they tell their relatives. This is because the health advice given to one person may apply to other people in the family.
If you have an increased risk of bowel cancer in your family we are very interested in what you tell us. Your views will guide us to provide better health care to families like your own. You may have experience of sharing information in the family, or you may not; we are interested to learn from everyone’s experiences.
We are conducting a survey (taking 20 -30 minutes) to gather the views of as many people as possible who have an increased risk of bowel cancer in their family.
If you are interested, please click on the link below to read an information leaflet and answer a few questions to check that you are eligible to take part. Survey questionnaires can be completed online at any time, or if you prefer, they are available in a paper copy.
If you have questions about this survey please email: firstname.lastname@example.org , text or leave a message on 07784785368.
Selina Goodman, PhD student & Genetic Counsellor
For hundreds of years the Scottish Highlands have resounded to the names of their famous clans: MacDonald, Campbell, Fraser, and many more. Each clan is a complex, branching family tree, starting from a single person but evolving over the years into a plethora of related but distinct groups.
Trying to untangle the different branches of a clan is a complicated and painstaking job for genealogists, poring over detailed histories and dusty parish records. But the family trees they construct from this information reveal the story of a clan’s evolution over time.
Now Charles Swanton and his team at the Francis Crick Institute, funded by Cancer Research UK, have carried out a similar painstaking analysis of data from more than 2,500 cancers, covering nine different tumour types.
Their study, published in the journal Science Translational Medicine, reveals the genetic relationships between different groups of cancer cells within an individual tumour, shedding light on the evolutionary processes at work as cancer grows and spreads within the body and how we might harness them to treat the disease more effectively in future.
Hayley Hovey was 23 weeks’ pregnant with her first baby when she suddenly woke in the middle of the night with a sharp, shooting pain in her side.
She visited her GP’s out-of-hours service but was reassured to hear her baby’s heartbeat and be told all was well. The pain was probably ‘ligament strain’ caused by the weight of the growing baby. ‘I was ecstatic to be having a baby – I’ve always wanted to be a mum,’ says Hayley, 34. ‘All my scans showed my baby was healthy, so I didn’t think anything more about that pain.’
She now knows it was the first sign there was a grave threat to her baby’s life, and her own. Four weeks later her daughter, Autumn, was born prematurely and later died. Then Hayley was found to have bowel cancer.
Doctors now think Autumn’s death was linked to her mother’s cancer, with a blood clot breaking away from the tumour, damaging Hayley’s placenta and cutting off the food supply to her unborn baby.
However, it took four months after Autumn’s death for Hayley to be diagnosed. The problem was her age – she was ‘too young’ for bowel cancer to be considered.
Hayley, who lives in Fareham, Hants, with her husband Paul, a 35-year-old IT consultant, says: ‘Looking back, I had textbook symptoms – exhaustion, intermittent stomach pains, increasingly bad diarrhoea, blood in my stools and bleeding.
The disease is Britain’s second-biggest cancer killer, claiming 16,000 lives a year. The number of under-50s diagnosed has been gradually rising – to around 2,100 a year.
But a recent survey by the charity Bowel Cancer UK of patients under 50 found that 42 per cent of the women had visited their GP at least five times before being referred for tests.
Indeed, Hayley, a supply planner for an IT firm, was examined five times by different doctors and midwives, who all missed her symptoms, despite a golf ball-sized lump appearing on her stomach after her pregnancy. By the time she was diagnosed, Hayley had stage three to four cancer, meaning the tumour had broken through her bowel wall.
She had to undergo a seven-hour operation to remove the 6cm growth, followed by six months of chemo and radiotherapy.
But her experience is not uncommon, says Deborah Alsina, chief executive of Bowel Cancer UK: ‘We hear from many younger people who express frustration at not getting a diagnosis and support.’
‘Bowel cancer is often associated with older patients over 50 – but younger people can, and do, regularly get it, as the tragic story of Stephen Sutton recently highlighted,’ adds Kevin Monahan, consultant gastroenterologist at West Middlesex University Hospital, London.
Stephen Sutton, 19, raised more than £3million during his three-year battle against multiple tumours
Stephen Sutton, the 19-year-old fundraiser who died last week from the disease, told the Mail earlier this month of his anger that he was not diagnosed for six months after his symptoms started. This was despite his family history of Lynch syndrome, a genetic condition that raises the risk of bowel cancer.
‘If it had been caught earlier, it could have led to a better prognosis,’ he said. Hayley, too, eventually discovered she had Lynch syndrome.
Bowel cancer is very treatable if detected early – 93 per cent of patients who are found to have a small tumour on the bowel wall live for five years or more. Yet only 9 per cent of cases are diagnosed at this stage – most are diagnosed at stage three. So, the overall five-year survival rate for bowel-cancer patients is just 54 per cent.
Because patients and many doctors assume that young people won’t get bowel cancer, they are particularly likely to have advanced-stage tumours at the time of diagnosis.
Bleeding or blood in faeces
A change in bowel habits lasting more than three weeks
Unexplained weight loss
See bowelcanceruk.org.uk; beatingbowelcancer.org (phone 08450 719 301); and familyhistorybowelcancer.wordpress.com/
Cancer charities are campaigning to improve diagnosis for all ages – they want new diagnostic guidelines for GPs and earlier screening procedures.
Sean Duffy, NHS England’s national clinical director for cancer, says: ‘The UK lags behind much of Europe in terms of survival from bowel cancer. We need to change this, and this includes identifying it better in patients under 50.’
National GP guidelines state only patients aged 60 and over should be automatically referred to hospital for tests if they have one symptom. Patients aged 40 to 60 must exhibit two or more symptoms.
For under 40s, there is often an assumption the symptoms must be something else, says Mark Flannagan, chief executive of the charity Beating Bowel Cancer. ‘We’ve had patients with red-flag symptoms – such as blood in their stools – being told “you’ve got IBS” or “you’re too young to have cancer” by their GPs.’
Four weeks after Hayley’s initial scare, she was unable to feel her baby moving. Tests revealed Autumn had stopped growing, and she had to be delivered by emergency caesarean. After her birth, in July 2011, she was taken to a specialist neo-natal unit at Southampton General Hospital but died in hospital a few weeks later.
Two weeks afterwards, Hayley experienced more shooting pains. With her pregnancy bump gone, there was also a noticeable lump on the side of her waist. Her midwife said it was probably an infection, and Hayley was given antibiotics.
But her health deteriorated rapidly and she had to take six weeks off work with exhaustion, which her GP put down to depression.
Within three months of Autumn’s death, Hayley was suffering from nausea and abdominal pain.
Unable to get a GP’s appointment, she went to A&E but was told the lump was possibly an infection related to her caesarean. Doctors performed a cervical smear test (which was subsequently lost) and sent her home with paracetamol.
Stephen Sutton with his mother Jane whilst Prime Minister David Cameron visited him
‘I got the impression they didn’t take me very seriously,’ she recalls.
Soon after, she was vomiting up to ten times a day, feeling dizzy and weak, passing blood and experiencing chronic diarrhoea. At an emergency GP appointment, she was examined by a different doctor who immediately referred her to hospital; after several days of tests, she was diagnosed with cancer.
Four days before Christmas, Hayley underwent surgery. ‘We thought we’d be enjoying our first Christmas as a family, but instead I was in hospital, grieving for the loss of our little girl and terrified about the future,’ she recalls. ‘My treatment might have been less of an ordeal if my cancer had been picked up sooner. It makes me quite angry to think if I’d been 60, it would have been picked up more quickly.’
But even obvious symptoms are often missed by doctors, says Mr Flannagan. ‘I am not blaming GPs, but we need to not be shy of pointing out where things are going wrong. The default position should be for a GP to rule out cancer, just to be safe.’
‘It can also be problematic if patients don’t have obvious symptoms such as bleeding’, says Dr Monahan. ‘They may instead have vaguer symptoms such as tiredness, unexplained weight loss or abdominal pain, which could be attributed to being symptoms of other conditions such as irritable bowel syndrome or Crohn’s disease.’
Public awareness is also an issue. A survey in March by health insurer AXA PPP found nearly half of men couldn’t name one symptom of bowel cancer.
Indeed, Martin Vickers, 49, had never heard of it before his diagnosis in 2008. ‘I was totally shocked,’ says the father of four, who lives in Burton-on-Trent with wife Andrea, 48. ‘I didn’t know bowel cancer existed. It was hugely traumatic.’
Martin visited his GP five times in nine months with extreme tiredness and loose stools. His symptoms were attributed to stress – his mother had recently died and he has a high-pressure job as head of capital investment for Cambridge and South Staffordshire Water – and then IBS.
Joining friends and family to complete a Guinness Book of Records challenge creating hearts with hands
‘But I knew something wasn’t right,’ says Martin. ‘It was instinctive.’ He was finally diagnosed with stage three bowel cancer in November 2008, after his GP did an internal examination and felt a lump.
Martin underwent three months of chemotherapy and radiotherapy, followed by surgery, another six months of chemotherapy and a second operation. He now has to use a colostomy bag but has been in remission for five years.
Currently, screening is only available to people aged 60-plus. They are sent home tests, which involve sending a stool sample to a lab. But the Department of Health is now looking at a new procedure, bowel scope screening, which involves a partial colonoscopy -examining only the lower bowel.
A major UK trial of 55 to 64 year olds showed that people screened this way were 43 per cent less likely to die from bowel cancer, and 33 per cent less likely to develop it.
This is because the procedure is usually successful at detecting small growths known as polyps, which can become cancerous.
The screening – which would be offered to everyone aged 55 and over – is now being piloted. Campaigners hope it will be made available nationally by 2016.
‘This is a really important development and should make a big difference to bowel cancer outcomes,’ says Dr Monahan, who runs the Family History of Bowel Cancer clinic at West Middlesex University Hospital, specialising in hereditary components of the disease.
It won’t, however, help younger patients such as Hayley. Before her chemotherapy, she and Paul had nine embryos frozen via IVF. However she is worried she may pass on Lynch syndrome, so the couple are considering what to do.
But she says: ‘I am still here, I have a life ahead of me – and I hope my story will help others to be diagnosed in time.’
Our briefing highlights the lack of surveillance screening for younger people at higher risk of bowel cancer.
Genetic factors contribute up to 30% of bowel cancer cases, an estimated 8,000-12,000 cases each year.
Genetic factors mean a strong family history of bowel cancer, or genetic conditions such as familial adenomatous polyposis (FAP) or Lynch syndrome. People with long-term inflammatory bowel disease are also at higher risk.
People in higher risk groups are likely to develop bowel cancer much younger than the general population. Clinical guidance recommends that people in high-risk groups should be in a surveillance screening programme, which is proven to reduce deaths in these groups.
Recent evidence shows that:
Our briefing, “Never too young: Supporting people at higher risk of bowel cancer”, has five recommendations to improve services for people in high risk groups:
Full details of our findings and recommendations are in our full report available here.
Does your family have a history of early onset colon cancer? If so, your family may have Lynch syndrome. Lynch syndrome may also increase one’s chances of developing cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, kidneys, bladder, pancreas, brain, skin, and if you are a male, the prostate. Women with this syndrome also are at higher risk for developing cancer of the endometrium, ovaries, and breasts. Approximately up to 1,000,000 people in the U.S. have Lynch syndrome and yet only 5% know it. Genetic testing, along with preventative measures, and annual medical screening may help one take steps to minimize risk of illness and death.
A history of polyposis and familial colorectal cancer
(Link to full article can be found here)
On the 25 September 2012 a meeting was held in Central London, convened by the History of Modern Biomedicine Research Group of Queen Mary, University of London, and funded by the Wellcome Trust. Assembled were many of the men and women whose research was at the forefront of the breakthroughs that led to the identification of genes for familial adenomatous polyposis (FAP) and hereditary non-polyposis colorectal cancer (HNPCC) (Lynch Syndrome) in the 1990s.
One of the most significant locations for early research into hereditary bowel cancer was St Mark’s Hospital in London, where surgeon John Percy Lockhart-Mummery (1875–1957) and pathologist Dr Cuthbert Dukes (1890–1977) were based. As Ms Kay Neale explained: ‘St Mark’s Polyposis Registry started in 1924 as a result of John Percy Lockhart-Mummery having an interest in family diseases and Dr Dukes having an interest in polyps turning into cancer.’ The Registry’s success was helped enormously by the work of Dick (later Dr) Bussey, who, aged just 17, started a meticulous system for recording patients with FAP, a condition that had first been noted in the medical literature as early as 1882. Neale elaborated on the spread of the Registry’s impact beyond the UK: ‘Dukes, of course, would lecture and publish in the journals of the day and so people would send pathological slides or descriptions of cases of polyposis from all over the world, and Dr Bussey would record them all and catalogue them.’ Fast forward to the 1980s when Sir Walter Bodmer became Director of Research at the Imperial Cancer Research Fund (ICRF) and, during the meeting, he recalled how in 1984 he established a St Mark’s Unit at the ICRF for all aspects of colorectal cancer, as research in familial cancer began to take more shape. The context for this growth in familial cancer research during the 1980s is discussed by Professor Tim Bishop in his introduction to the publication, along with several seminar participants who reflect on the work of the UK’s Cancer Family Study Group.
Representing a transatlantic viewpoint, Professor Jane Green from Canada moved the story into the 1990s and to HNPCC. A world away from the research lab, she tried to find familial links amongst cancer patients: ‘I spent many hours on roads in Newfoundland going to different small communities and talking to people in their homes. Every time somebody said, I’ll speak to my grandmother because she knows more of the history,’ or ‘You need to know about that other part of the family’ and they would contact them … As I put the pedigrees together they were very, very interesting.’ Her informal conversations revealed linkages, the understanding of which would be critical to the international effort that identified the MSH2 and MLH1 HNPCC-related genes in 1993. Like Jane Green’s families, patients from St Mark’s Polyposis Register were critical in providing DNA samples that helped identify APC, the gene for polyposis in 1991.
These and many other stories from the scientists, clinicians and others involved in this significant research can be read in more depth in the published, annotated transcript of this Witness Seminar. This volume is free to download from the Group’s website as a PDF document.
Emma M Jones, Alan YabsleyHistory of Modern Biomedicine Research Group Queen Mary, University of London Mile End Road London E1 4NS United Kindom
A guest blog from Georgia Hurst, as she worries about the impact of her diagnosis of Lynch Syndrome on her son. Read more at ihavelynchsyndrome.com
“I will not get sick, but if I do…
…I will have the strength to endure it.”
This is my new mantra. The above photo is the view from my zafu when I go to Buddhist Temple for meditation; the solace this gives me is immeasurable. I have been finding myself at Temple a lot lately, meditating and reaching for my internal strength to deal with the unbearable anxiety and stress which currently confront me. I’m trying not to discuss it with people; it’s too much for me to process, let alone them. Besides, I feel as though I put them into a precarious position if I do bring it up because there are no words available to them which can possibly comfort me at this time. I am going to Mayo Clinic in 11 days and the anxiety is increasing by the minute. I am expecting the worst, whilst hoping for the best. I’m sure I am not the only one with Lynch syndrome that feels this way when it’s close to testing time. The plethora of emotions are running rampant in me little head. I feel guilt. My oldest brother did not have a chance, my second brother does not have a colon – and then I think of all of the people I’ve met through my blog and Facebook and other forms of social media who are fighting for their lives because they, too, have been blindsided by this genetic curse. Damn you, Lynch syndrome. I feel anger because I may have given this to my beautiful little boy. If I knew for sure that this monster ended with me with 100% certainty, I would at least not have to fret about my child. I also feel anger for all the children who are watching their parents suffer and die, leaving them with a life of endless uncertainties and insecurities. I feel sad, not for myself, but for my family, my dog, and my friends; because I know that part of you dies when someone you love dies. I feel lucky; I’m fortunate to know I have this genetic mutation, have insurance, and have the ability to exhibit some control of it; I get to go Mayo and get see the Rock Star Doctors of Lynch syndrome. I feel confident; I keep reminding myself that I eat well, exercise, surround myself with loving, nourishing people, animals, books, etc., and have eliminated every imaginable toxin in my life. I feel fearless and empowered in many ways; yet, helpless in so many others. I vacillate between optimism and negativity; perhaps I should simply stop it and end up somewhere in the middle. I am exhausted, whilst I exhibit every possible emotion known to humanity. I long for the days when I didn’t know of my charming genetic nemesis and wasn’t emotionally imprisoned by Lynch syndrome. I would give everything I have to simply appreciate a few minutes of life sans Lynch. Two weeks from today, I will know if everything I talk about truly matters or if my genetics will trump everything I think and do. I just want spend the next several days being fearless. Fearless. Fearless. Fearless. In the eloquent words of Tagore: Let me not pray to be sheltered from dangers but to be fearless in facing them. Let me not beg for the stilling of my pain but for the heart to conquer it. Let me not look for allies in life’s battlefield but to my own strength. Let me not cave in… Yours, Georgia Hurst, MA ihavelynchsyndrome.com This post was written in late April before I went to the Mayo Clinic in early May for my annual testing; I received a clean bill of health and not even one little polyp was found in my colon.
Thanks to Georgia Hurst for this insightful article based on her personal experiences as someone diagnosed with Lynch Syndrome. She describes some of the barriers she has faced with this diagnosis. Her blog is available at ihavelynchsyndrome.com
Matroyoshka Nesting Dolls by Georgia Hurst – ihavelynchsyndrome.com
I cannot help but think of those adorable Matryoshka nesting dolls when considering Lynch syndrome and its implications. Matryoshka nesting dolls are those cute, wooden Russian figures which separate, top from bottom, to reveal a smaller figure of the same sort inside, which, in turn, reveals another figure inside that, and so on. I think of those dolls as a metaphor for Lynch syndrome, sans the cuteness. The emotional toll of knowing you hold a deleterious gene mutation can be quite challenging and one Lynch syndrome issue leads to another, to another, and so forth. With that introduction, I am simply trying to raise consciousness in the elusive Lynch syndrome world about topics which are rarely discussed amongst the professionals who deal with Lynch syndrome patients. Doctors, genetic counselors, psychiatrists, psychologists, and others need to be cognizant that people with Lynch syndrome are dealing with a constellation of emotional and possibly physiological issues as a result of this diagnosis and the recommended surgeries.
Lynch syndrome, also known as Hereditary Non-Polyposis Colorectal Cancer: HNPCC, affects approximately 600,000 people in the United States; yet, only approximately only 5% of us know it. Lynch syndrome is typically associated with a significantly increased risk for colorectal and endometrial cancers and is caused by mutations in following genes: MLH1, MSH2, MSH6, PMS2, and EPCAM. Cancers potentially stemming from Lynch syndrome include: colorectal, endometrial, gastric, ureter/renal, pelvis, biliary tract, small bowel, pancreas, brain, sebaceous carcinomas ovarian, prostate in men, and breast, endometrial and ovarian cancer in women. Lynch syndrome warning signs include early onset cancers (<50y) in one’s family history, specifically colon cancer, endometrial cancer, and/or two or more other cancers in the same individual, or among their close relatives.
My Lynch Matryoshka dolls exposed a plethora of new challenges and I did not have even one of those cancers. I took the prophylactic measure of removing my reproductive organs to prevent malignancy to them and was fortunate enough to ‘only’ have a hysterectomy and bilateral salpingo-oophorectomy. At the time of the surgery, I was a healthy, fit 40-year-old-woman – ten years, or more, away from menopause and doctors completely minimized what was to happen to me with this surgery, assuming that the “one size fits all approach” to medicine would with work with me. I was told that a hysterectomy and bilateral salpingo-oophorectomy were not such a big deal for a woman of my age and that I would be fine with a low dose of estrogen and an antidepressant. Unbeknownst to me, my physiological and psychological response to the surgery would end up highly taxing to say the least. The convalescence from surgery and further testing for Lynch syndrome screenings required a number of doctors’ visits – to some doctors who did not know about Lynch syndrome, nor would they take the time to find out, or were too arrogant to refer me elsewhere. A physician’s lack of knowledge regarding a deleterious gene mutation can only fuel a patient’s existing fears and anxiety. It is comparable to throwing the patient into dark, shark infested waters, and not telling them which way to swim; a very frightening position to be in for a person who already feels like a walking time bomb.
My first, big doll is the Lynch diagnosis of MLH1 followed by the dolls of: doctors who do not know what Lynch syndrome entails; depression; anxiety (especially over the thought of the gene mutation being passed onto my child); surgery; hormone replacement (over several months); antidepressants (and their charming side effects); hot flashes; frustration over family members ignoring pleas to get tested; loss of appetite; lethargy; stressors on family; personality changes; feelings of despair, isolation, frustration, anger; insomnia; debilitating nausea; vomiting; headaches; hair loss; and the anxiety of annual testing. Each doll is either an emotional manifestation of knowing I have Lynch syndrome, or a physical manifestation of the prophylactic surgery, and occasionally, a doll can be a result of both.
I am not your typical patient and am probably considered an anomaly in the medical world as far as patients are concerned; I have always been vigilant with my health due to my extensive background in biology and have become my greatest advocate against Lynch syndrome. Even though I live in Chicago and have access to exceptional healthcare, I still had to find doctors who knew more about Lynch than I did. Of course, I know there are thousands of genetic mutations, I could not expect every doctor to be familiar with every single one, but there should be some measure in place for physicians, at the very least, to provide patients in such precarious circumstances with some level of care, whether it be a referral, or through some other form of support. A number of doctors I sought out for the various required screenings did not know what Lynch syndrome entails and what screening involves, or bothered to find out. Frustrated I sought a referral from a friend of mine, who happens to be a neurologist; he referred me to one of the top oncologists in Chicago, and thought this oncologist could help me in taking preventative measures against Lynch syndrome. They knew I was there for Lynch syndrome and yet the oncologist had not known, or researched Lynch syndrome prior to my visit, and told me there was nothing they could do for me. I refused to believe them and continued my search beyond Chicago.
Through research, I found a specialist at Mayo Clinic and have the good fortune to visit her and the rest of my ‘team’ on an annual basis. I make one phone call when need to come in for my annual testing for Lynch syndrome and they take care of the rest. My screening at Mayo Clinic consists of: a CT scan, an annual colonoscopy, an upper endoscopy with extended duodenoscopy, CA-125, a urinalysis with cytology and renal ultrasound, a mammogram, and a dermatological exam to screen for sebaceous adenomas, carcinomas, keratoacanthomas. Currently there is no screening for brain cancer because the screening modality for it has not been shown to be effective at detecting cancers early or reducing morbidity and mortality if detected early. The physicians at Mayo know which tests to conduct, how frequently they must be done, which doctors are best suited for each test, and are capable of completing the various scopes and tests within of two days. My medical care requires a huge collaboration amongst doctors who know their stuff. I take great comfort in knowing that I am in stellar hands, within the confines of leading medical facility, and this in turn relieves a great deal of my anxiety.
This combination of specialists, each highly knowledgeable about Lynch syndrome, and who can discuss each patient’s unique circumstance among themselves is, I have found, an exceptional reassurance. I hope that many more such ‘teams’ will be set up for those who have Lynch syndrome.
There are several proactive measures one can take to prevent cancer and influence their gene expression.
I believe, and mounting evidence supports this, there is a constellation of factors regarding whether or not one develops cancer. Along with annual screenings and stellar medical care, I believe a healthy plant-based diet, exercise, stress reduction, meditation, and a sanguine personality will combat my deleterious gene mutation. There are many factors which effect your gene expression and whether or not you survive cancer, and I use Stephen J. Gould as my best model.
Gould was an esteemed evolutionary biologist from Harvard and was diagnosed with peritoneal mesothelioma and even with surgery, his prognosis was not good – according to the statistics, those with this particular disease typically have eight months to live. Fortunately, his professional training as an evolutionary biologist required a strong familiarity with statistics and he knew how to decipher the data. This inspired him to write an article for Discover magazine entitled, The Median Isn’t the Message, discussing how statistical averages are simply abstractions – they do not include the full range of variation. Gould applied this thinking to his medical situation and figured out that his circumstances would put him in the upper statistical range for a number of reasons: his cancer was detected early, he was young, had access to great medical care, possessed a positive attitude and was willing to take risks with experimental treatments. Gould managed to survive for 20 years until another cancer, metastatic adenocarcinoma of the lung, ended his life on May 20, 2002. His story and thoughts have been inspirational for many cancer patients.
My most recent Lynch doll was the result of the psychological toll of knowing I have Lynch syndrome. The physiological toll and the physicians’ minimization of having the oophorectemy at a young age, and having experienced menopausal shock, prompted me to create a website called: ihavelynchsyndrome.com. I have tried to create a site mostly for previvors, people who have Lynch syndrome but do not have cancer; a site I would have liked to have found when I was diagnosed, where nothing is sugar-coated and where others may seek validation for the myriad of emotions as a result of the diagnosis. I deal with the daily, complex, emotional aspects of having a deleterious gene mutation; and yet, at the same time, try to provide my readers with some solace and encourage them to make positive changes to their lifestyle. My most recent doll has provided me with a cathartic outlet, whilst helping others who are coming to terms with their diagnosis. It has provided me with a platform to give a voice to an elusive, heinous syndrome, which can be controlled to some degree, with endless vigilance, screenings and living well.
Georgia Hurst, MA
Georgia Hurst’s blog: Ihavelynchsyndrome.com
TRIPLER ARMY MEDICAL CENTER, Hawaii, USA – Daniel Shockley, a retired Sailor living on Oahu, meets with Lt. Col. Ronald Gagliano, chief, Colon and Rectal Surgery and director, Surgical Research, TAMC, to discuss recovery and post-operative…
Due to his hectic work schedule, Shockley rescheduled the screening a couple times and it wasn’t until May 8, 2012, when he got the colonoscopy.
“They usually schedule colonoscopies for 1-hour blocks of time, but they found so much wrong during mine that he had to spend a lot of time documenting and taking pictures,” Shockley explained. “What they found was approximately 100 polyps embedded throughout my colon, rectum and anus. And at the traverse colon, the junction between the large and small intestine, they found a large tumor that was creating an 80 percent blockage.”
Shockley was referred to Tripler Army Medical Center’s general surgery clinic, and the week following the screening, he met with Susan Donlon, a certified genetic counselor at Tripler.
Donlon performed DNA tests on Shockley and within three weeks the tests had come back confirming that Shockley has a gene mutation known as Adenomatous Polyposis Coli, which increases a person’s risk of developing colorectal cancer. As a result of the mutation, Shockley was diagnosed with Attenuated Familial Adenomatous Polyposis, a condition in which numerous polyps form mainly in the large intestine.
“I knew surgery was inevitable and I was willing to accept the worst case scenario the whole time,” Shockley said.
On July 13, Shockley underwent a total proctocolectomy with ileostomy surgery, which removed portions of his large intestine to include the entire colon, rectum and anus.
Shockley spent about two weeks in Tripler’s general inpatient surgery ward recovering before he was able to go home. It was nine weeks before he was able to go back to work.
Lt. Col. Ronald Gagliano, chief, Colon and Rectal Surgery and director, Surgical Research, TAMC, performed Shockley’s surgery and has followed up with him to ensure he is not only well-informed, but also well-educated.
“He knew nothing of his disease and its many facets before we met and our team (at Tripler) began his personal education in order to promote effective counseling regarding his diagnostic and therapeutic options,” Gagliano explained. “Finally we educated him regarding his genetic situation so that he could choose (how to best) inform his family. By giving him great care, we essentially treat an entire family cohort.”
“(Dr. Gagliano and his team) have passion for what they do, and my care was phenomenal,” Shockley expressed. “I cannot say enough good things about my stay and the care they provided.”
Gagliano is very pleased with Shockley’s recovery thus far and attributes it to his attitude.
“I tend not to think about things I can’t control,” Shockley explained. “Medical issues are not something I can control, but what I can control is my attitude and after 51 years on God’s green earth my positive attitude has gotten me this far and I am not going to change it.”
Because of Shockley’s surgeries, he now has an ostomy pouching system, a prosthetic medical device that provides a means for the collection of waste. Nina Lum, certified wound, ostomy and continence nurse, TAMC, who helped care for Shockley throughout his recovery, echoed Gagliano’s remarks.
“Shockley’s resilience in the face of challenges including his tremendous enthusiasm for life, regardless of setbacks, certainly played a huge role in his recovery,” Lum said. “He has always maintained a positive outlook, been fully engaged in his care from the beginning, reached out to the ostomy community not only for support, but also to offer support and advise based on his personal experience.
“He is selfless in trying to reach out to others,” Lum added.
Shockley has embraced his diagnosis and challenged it from the start. He acts as a patient advocate and an ambassador for colon cancer awareness.
“(I want to) share my story with others on behalf of those patients that have gone before me and who were unable to share their story,” Shockley explained. “My catchphrase is ‘AFAP-Seize the disease!'”
Shockley wants to spread the information about his diagnosis and experience so he can inspire others to get the screening and be aware of the condition. Additionally, there is not a lot of information about AFAP available, so he hopes that talking about his diagnosis will help the medical community.
“By maintaining a positive attitude, the opportunity for a success story is much higher,” Shockley said. “This in turn allows me a better chance of overcoming adversities I am faced with during my lifetime.”