Lynch Syndrome and me: Leanne's story

"I was picked up by chance.

In the spring of 2009 my dad developed bowel cancer. The cancer was quite far gone and, by the time it was discovered he had a perforated bowel and was in intensive care for a while.

Me and my sister had a good relationship with my dad’s doctor and we questioned whether there was a hereditary link with the cancer that may affect us; my dad’s dad had also had bowel and bladder cancer. At that time, there were none of the screening and testing services that are available today and we weren’t even aware of Lynch Syndrome (LS).

We were referred to Julian Barwell at the Leicester Royal Infirmary for genetic testing. From the moment that we met the team, we felt looked after. They provided lots of education and positivity.

Both me and my sister were offered genetic counselling to see if we were ready to go ahead with testing, to make sure that we fully understood the risks involved and what it could mean for us going forward.

Before we were given the results we discussed everything from best case scenarios – that neither of us had LS – to the worst case where we both had it. At the time, a big thing for me was that my sister had a three-year-old daughter who could also possibly have inherited LS. But, as it turned out, I had inherited Lynch Syndrome whereas my sister had not. Ironically, she was more upset than me.

At the time I was only 22 and life was very different. I had a lot of counselling afterwards to talk things through. I was offered annual reviews to keep up to date with new tests and developments with treatment. I also began having regular ultrasounds and colonoscopies.

What does it mean for me going forward?

After I met my partner we decided to have IVF and pre-implantation genetic diagnosis (PGD) to eliminate the risks from any children that we might have. We were referred to Guy’s Hospital in London and in 2017, we had our son Jasper.

The IVF had actually produced four embryos that were tested; two of them had LS and two did not. So we were faced with choices – have another round of IVF or take our wins? We decided to try the other embryo but, unfortunately, it didn’t work out.

As part of understanding our risks associated with gynae cancer, my regular screenings showed some red flags and I took the opportunity to have a hysterectomy. I didn’t take this decision lightly but I felt it was the right choice for us at the time.

We’ve decided not to try for any more children. I’ve hit the age now – I’m past 35 – where the risks start to increase quite rapidly. I want to give me and my family the best chance of having a happy life together.

When we found out, we spoke with other family members as I felt that I needed to let them know. Some of my relatives came forward and got themselves tested to see if they could make the same informed decisions; others didn’t.

Looking at the statistics, I feel privileged. I know that I have Lynch syndrome and I can make choices about my life.

Over the past 10-15 years, there’s been much more awareness and research into Lynch syndrome. My midwife, for example, had been trained in LS and was able to put me at ease straightaway. I didn’t have to tell her my story and justify my treatment and screening.

Having this knowledge has enabled me to make decisions about my life.

I say take the positives.”