'Why I'd rather live without my stomach'

When Emma O'Connor learnt she had a rare gene mutation, her choice was stark: face radical surgery or risk dying young from cancer
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Indy Lifestyle Online

Dad and I walked into the consultant's room, taking up the two chairs prepared for us. I had a different set of questions for each possible outcome; my sister and I would have the genetic mutation; only she would have it; only I would have it. I didn't even consider the miracle that neither of us would have it.

Moments later, the consultant opened the brown envelope. She then said to me, "Yes, I am afraid that you do have the E-cadherin gene mutation."

"OK, OK, Dad we can do this...." As Dad broke into tears I held him, allowing only a few of my own tears to escape. I guess I asked my questions, although I don't recollect what they were. All I remember was how my body felt completely drained of life.

We walked arm in arm out of the hospital. I held my head low to avoid the eyes of anyone, and felt a deep and desperate sadness.

My sister would know her results by now. She came to an earlier appointment with my mum. We had decided to meet back at the house, where we would share our news, but Dad and I couldn't wait. We called them before going home. I knew that if she had the gene mutation, too, I would have used every muscle in my body to smash whatever was near me.

As Dad relayed the news that she was clear he said my face resembled that of a lottery winner.

My dad's mum died before I was born, from stomach cancer, as did many of my dad's extended family. We always knew there was a lot of stomach cancer on my dad's side of the family and Dad volunteered to help with cancer research. A gene mutation was found in the E-cadherin gene, for a diffuse stomach cancer.

This sort of stomach cancer is extremely rare and does not start with a lump. But this means it is virtually impossible to detect until too late. So once you realise that you have the cancer you are already dying of it, and there is little in terms of treatment.

With this gene mutation, I am about 80 per cent likely to contract this rare cancer. And since there is no cure, doctors offer treatment by prevention: removal of the stomach. At only 26, this seems a daunting step.

However, my dad is living proof that you can live without a stomach. He had his removed a few years ago for the same reason. It took him a while to recover, but he is more or less happy with his quality of life. It has been good for me to have someone to talk to who has had their stomach removed.

Opting for preventive surgery will mean I can never get stomach cancer. In many ways, it was not a hugely difficult decision to make. If I don't have the operation, I have a high chance of dying young, whereas, in having the operation, my life expectancy is greatly increased.

So my stomach will be completely removed and my intestine will be attached to my oesophagus. With time a small pouch should develop which will act as a vessel, in a similar way to the stomach. The surgery is simple, and as a healthy 26-year-old, the surgeon doesn't see that there should be any complications.

Unfortunately, there is also a suggestion that breast and bowel cancer are associated with this particular gene. However, the level of risk is unknown and I have just been advised to be "breast aware".

There are more immediate risks. Since discovering that I have this gene mutation, I have been trying to put on weight, because without a stomach it is quite likely I will lose weight. I am quite thin and can't really afford to lose many pounds.

But this isn't just vanity. I must keep my weight up, because if I slip below a critical weight there is a chance my periods could stop and I would not be fertile. I have always hoped to have a family, so am doing all I can to pile the pounds on now.

To help with my weight and enable the doctors to monitor it carefully, I will have a valve fitted into my lower intestine. This means that I can be nourished via a tube straight into my lower bowel; I will learn to hook it up myself and feed overnight. I can have this for about nine months, which will help to stabilise my weight.

I will need to adjust to eating tiny quantities, very frequently, gradually increasing the amounts over the months. I will be able to eat most normal foods, but will have to go easy on high-fibre foods and fizzy drinks, which will make me feel extra full.

I will spend about three weeks in hospital. I will be happy to be at home again and ecstatic to have just made it through what must be the worst time in this whole ordeal.

For a long time I felt overwhelmed by fear. My thoughts were so negative that I was convinced I was going to die in the operation, or not recover from it. This was unlike me as I am not naturally a fearful person. My family and I have all been offered genetic counselling, which, along with the unconditional support from the people close to me, has helped me to come to terms with things.

It has not been easy. At times I have felt overwhelmed with sadness. In many ways, however, my biggest worry has been for those near to me. As I was convinced I was going to die for a long time, I was so afraid of how they would cope. No matter how much I talked it through and listened to the facts, I couldn't say, "when I get through this", it was always "if I get through this".

I'm not sure whether there was one specific thing that helped me get to the point I am at now, where I am able to see past the operation. It was in probably in part down to chatting more with the nurses in hospital. Also, I know that whatever the outcome, in deciding to have the operation, I have made what I feel is the best decision and I feel at peace with that. Also, I have no doubt that a course of homeopathy has also really helped me to understand and later have control over my fear.

I have learnt to feel positive: when my stomach is gone, so will be the burden of knowing that I am vulnerable to a serious disease.

I have recently moved back to my parents' house, where I can spend as long as I like recovering. I am not under pressure to rush back to work. I can make sure that I am better first, something my dad didn't really do. It will be good to have some quiet recovery time. I have been collecting lots of craft and look forward to making some beautiful jewellery. I will spend time making art. I have just done an art foundation course.

I have started making plans for when I feel stronger. I am looking forward to a possible trip to Latin America. My friend and I always said that we would like to go in 2007, and although, before, I never really wanted to commit to anything that far ahead, now just the thought of it makes me feel happy.

So now I must prepare for surgery. I've had an amazing "pre-op" party at my parents' house. I am very happy to have so many true friends, a gorgeous boyfriend and a wonderful family all thinking about me and sending positive thoughts. I'm ready to face my future.

If you would like more information or you too have a family history of stomach cancer please contact the Cancer Research UK team in Cambridge on 01223 330 019.

The killer gene

Around 10,000 people develop stomach cancer in the UK each year.

Survival is still very poor - less than one in five people is alive five years after diagnosis.

The various forms of the disease kill more than 6,000 people every year in the UK.

Around 10 per cent of stomach cancer cases run in families.

While non-inherited cases occur mostly in people over 60, inherited forms strike much earlier, mostly before the patient is 40.

One form of the disease that runs in families is called hereditary diffuse gastric cancer (HDGC) and affects around 200 people a year in this country.

In 2002, scientists linked HDGC to a mutation of the E-cadherin gene that helps to hold cells together.

The fault stops the cells from adhering and can lead to tumours developing.

Around a third of families with a history of HDGC have the E-cadherin gene mutation and those who carry it have a 60 to 80 per cent chance of developing HDGC.

The cancer is particularly difficult to detect because it grows between the surface of the stomach and the muscle.

Gastrectomy involves removing the entire stomach. The gullet is then joined to the small bowel in what is called a Roux-en-Y reconstruction.

Food is channelled down the oesophagus to the small bowel, allowing patients to eat small portions of solid food.

Scientists are now trying to work out ways of turning the gene mutation off in order to prevent the disease.

Maxine Frith