Shropshire mother with same genetic disease as late Stephen Sutton on mission to raise awareness

Lynch Syndrome is a rare mutated gene that greatly increases the chance of getting numerous cancers at a younger than average age.

But the perception that it is rare is causing problems. The number of people who know they have it is low, but due to lack of awareness and barriers facing genetic testing, it is believed many are at risk but are now aware of it.

Helen Bufton, who lives in Trench, suffers from the disease and has already battled bowel cancer.

The disorder has been passed to her 22-year-old daughter Chantelle but son Mitchell, 16, is too young to be tested for it.

Mrs Bufton said as far as she knew, they were the only family in Shropshire to suffer from LS, but she and charity Lynch Syndrome UK, where she is a committee member, are desperately trying to raise awareness of it.

And it is not just individuals who are being targeted – it is members of the medical professional, she said.

The 45-year-old said: "My family have this gene and in the last 12months my brother, mother and myself have battled cancer.

"We are trying to raise awareness and funds for the charity so we can make more families and medical professionals such as GP's aware of the potentially life threatening gene.

"Your chances are 50 per cent of passing it on. Me, my brother and sister have got it. I have passed it down to my daughter. It is like a mismatch repair gene.

"The actual gene we have got is rare there is only one other family in the Midlands with this particular gene that is faulty.

"It means you have got an 85 per cent chance of bowel cancer in your lifetime. There is a higher risk of getting most of the main cancers than the general public."

Mrs Bufton, who works at the Department for Work and Pensions in Telford, was made aware of the charity after being followed by a fellow-member of a Macmillan Cancer online support forum.

The aim of the charity is to raise awareness in the general public and the medical profession.

It is also pushing for a national register to be set up which means everybody, no matter where they live in the country, will have the same screaming as everybody else - at the moment different services are available depending on where you live.

She added: "As a charity we want anybody under 50-years-old auto screened for any genetic condition because under 50s generally should not be getting bowel cancer.

"We are also trying to raise money because we have to have £5,000 turnover a year.

"A lot of fund raising is taking place. My daughter recently got married and we had a collection there. She also had a fundraising night at home doing food and drink and a raffle. With these two events we raised £330."

She said she has always been open with her family about her condition and is also pushing the Government to allow genetic testing earlier, so people can find out of they suffer from the disease earlier in life.

She said: "Living with it, it feels like you are a ticking time bomb.

"When I was diagnosed it was only a couple of months and I went for a colonoscopy they told me there and then I had bowel cancer from finding out I had the gene to having cancer was a short amount of time.

"But my advice would be find out more about this and if you or your family get any of these cancers then invest in genetics testing because it can ultimately save your life.

"Because it is in your genes there is no cure for it. You can have IVF and discard ones with the gene, but what we need is people need to be screened earlier and more registered.

"People who are concerned can go to their GP and be recommended for genetic testing. They will then be put forward for genetic counselling then and testing would take place in the nearest genetics centre, which to here is in Birmingham.

"They call it a rare disease, but there could be families walking around who do not know they have got it. If there are any families in Telford who have got the gene or think they might have it, they are welcome to get in touch with me."

She said herself and members of the charity were hoping the case of Stephen Sutton would raise the profile of LS, but were left disappointed at the lack of coverage.

"I did not even know he had it for a long time. There was only one report I had seen to say he had LS.

"All the way there is was never mentioned and I was shocked. I put it out on the form people said it was not well documented."

* For more information, visit www.lynch-syndrome-uk.org.