‘I’m lucky to be alive’

Her father died of the disease when he was in his 40s, as did her grandfather, but back then, in the 1970s, doctors told the family it was just an unlucky coincidence.

A few decades on, huge advances have been made in our understanding of the role played by inherited genes in the development of some cancers and it was this that undoubtedly saved Lynda’s life.

In 1997 Lynda, then 45, started getting severe stomach cramps. As she had a demanding job and had been studying for an Open University degree she thought it was probably stress-related but decided to consult her doctor all the same.

Tests for a stomach ulcer came back negative but when Lynda’s GP looked at her family history he decided to investigate further.

After some tests at Ipswich Hospital she was given the devastating news: she had bowel cancer.

“I was quite shocked when they told me,” says Lynda, who lives in Barham, near Ipswich, “even given my family history.

“They removed half my bowel and the cancer was sufficiently bad that after the surgery I had to have follow-up chemotherapy. It had advanced into the lymph nodes but not into other organs. Had my GP not picked up on my family history I don’t like to think what would have happened.

“I had been having the most terrible stomach cramps, which are not typical symptoms of bowel cancer. It was only my family history that alerted my doctor to send me for more tests.

“My father died when he was in his 40s and his father also died in his 40s. My father died in the 1970s and at the time they said it was an unlucky co-incidence.

“Treatment and knowledge have come a long way even since my dad died. He had no follow-up treatment. They did the operation and hoped. My cancer was as advanced as his was but I was able to benefit from improved treatment. They are progressing all the time. Chemotherapy treatments are more accurate than ever before.

“Early onset is what raises suspicions that cancer can be hereditary. Most people have someone in their family who has died of cancer in their 60s, 70s or 80s. Anyone in their 40s sets alarm bells ringing.

“My dad was 47 when he died, so was my granddad. He died in 1950 and dad died in 1973.”

After her treatment Lynda was monitored regularly in case the cancer should return.

“I had a colonoscopy every two years,” she says. “Each time I went I was never totally clear. I always had what are called polyps. In 2008 I had mass of polyps which were cancerous and they said the bowel was so unstable they would have to remove the rest.

“On that occasion I had no symptoms at all. It was just the check that picked it up.”

Doctors at Ipswich Hospital removed the rest of her bowel in May 2008 and created something called an ileo-anal pouch, which is an internal pouch surgically constructed from the small intestine. Ileo-anal pouches are used in cases where the colon and rectum need to be removed. The pouch is connected to the sphincter muscle, which is the muscle that surrounds the anus.

“When the rest of my bowel was removed I felt devastated,” says Lynda. “After the operation to remove the first half I was always fearful that I would one day lose the rest.

“But I can’t praise Ipswich Hospital enough. Because of the expertise of the surgeons there they were able to create this situation for me. Externally, people wouldn’t know there was anything wrong with me.”

She took early retirement from her job in education administration but manages to lead a reasonably normal life, despite the major surgery she has undergone.

“I can eat reasonably well but have to watch my diet,” she says. “I have had to cut down on vegetables and fruit because of diarrhoea. I have to have what are essentially the ‘wrong’ foods for a normal healthy diet - white bread, not high fibre.

“I have to think a lot about journeys. I have been to Australia - on aircraft and trains I am ok because I have access to a toilet – but car journeys are not always so easy.

“I have to have the surgery monitored because I am not sure how long term it will be. Also, I have things like liver scans regularly. I will be monitored all my life, which is quite comforting really.”

Lynda’s sisters also both developed cancer in their 40s – one died from pancreatic cancer and the other, who had breast cancer, survived.

Like Lynda, her surviving sister and a brother are closely monitored because of the family’s genetic history.

After her first operation she decided to undergo a blood test to find out for sure if she had a genetic condition that predisposed her to cancer.

After several months of waiting she was given the news: she did indeed have a genetic mutation that can cause hereditary bowel cancer.

Seven genes have been identified as causing the majority of cases of hereditary bowel cancer: MSH2, MLH1, PMS1, PMS2, MSH6, TGFBR2 and MLH3. Lynda’s is MLH1. These genes are inherited in a pattern which means that a person has a 50% chance of passing the abnormal gene on to each of their children. However this doesn’t mean a 50% chance of cancer in the child as not all those who inherit the genetic mutation will go on to develop cancer.

The genes affected are known as repair genes, which means they normally detect and repair damage in DNA that occurs when DNA is copied during cell division. However, when the genetic mutations are present, mistakes in DNA persist. The faulty DNA accumulates leading to uncontrolled cell growth and hence a risk of cancer.

The genes associated with hereditary bowel cancer can sometimes cause other cancers, such as stomach, small intestine, liver, gall-bladder, ovary, endometrium (the lining of the womb), kidney, brain, skin and prostate gland.

Lynda, who does not have children herself, recognises that not everyone is in favour of testing for genetic mutations that can cause hereditary diseases because of the implications for future generations and day-to-day living. Mortgages and insurance, for instance, can be affected by a positive result.

Despite all the heartache she has suffered Lynda sees positives in her situation.

“Medicine has come a long way in the last half century,” she says. “Even in the 10 years since I was first diagnosed chemotherapy treatments have changed and there have been advances.

“My message to everyone is to be alert. I am alive and living a pretty good life through my GP’s vigilance. Some of the monitoring I have to have is pretty horrible but if it wasn’t for that I wouldn’t be here.”

Of course, most people who develop bowel cancer are not in the same category as Lynda – they have no genetic predisposition – and anyway, researchers are increasingly advising on the importance of diet and lifestyle in cutting everyone’s risk. That is the theme of this year’s Bowel Cancer Awareness Month.

There is increasing evidence to show diets high in a variety of vegetables, fruits and whole grains may help to reduce the risk of bowel cancer due to their active vitamin, mineral and fibre content.

As well as vegetables and fruits, other plant foods are also thought to help reduce the risk of bowel cancer. This is especially true of unrefined or whole foods like potatoes in their skins, brown rice, beans, wholegrain bread and cereals.

Due to their high fibre content, whole foods move through the gut quickly. A reduction in stool transit time is an important factor in bowel cancer prevention. The shorter the time that waste is left in the colon the less likely the bowel is to be exposed to toxic chemicals, which researchers suspect contribute to an increased risk of the disease.

Drinking 1� litres of water per day will aid digestion and help prevent constipation.

Prebiotic fibre encourages the growth of beneficial bacteria in the gut, which then boosts the immune system and helps food to be digested properly. Foods which include prebiotic fibre are onions, garlic, leeks, beans, lentils and oats.

The following foods have all been linked to the development of bowel cancer. It is advisable that you try to cut down on:

n Red meat: Particularly fatty and processed meat like burgers, sausages or ready meals, and meat which has been burnt or charred. The chemicals produced in cooking red meat are thought to be harmful to the gut lining.

n Fat: Particularly saturated fat, the kind found in meat and dairy products, and trans-fats (which are a result of food processing) found in many pre-packed foods and baked goods such as pastries. Both may be linked to the formation of bowel polyps (abnormal tissue growth).

n Alcohol: A high intake of any type of alcohol is thought to increase bowel cancer risk.

n Caffeine: Tea, coffee, cola and some popular non-alcoholic bedtime drinks contain caffeine, which encourages the fluid we drink to pass quickly through our waterworks rather than circulate through the bowel.

n More information about bowel cancer and what you can do to support Bowel Cancer Awareness Month is available from the charity Bowel Cancer UK. Visit their website at www.bowelcanceruk.org.uk or phone 020 7381 9711. They also have an advisory service on 0800 8 40 35 40.