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Deborah Ward-Johnstone: "Realising what’s valuable in life has pushed me to create adventures"

25 February 2020

Deborah Ward-Johnstone

Deborah was diagnosed with bowel cancer, aged 29 and later found out that she has Lynch syndrome: a genetic mutation that increases a person's risk of developing certain cancers. She shares her experiences and how her mindset has changed since finding out she had the mutation.

"Just before Christmas 2005, I noticed what felt like a pulled muscle in my side. I assumed it was from overdoing it at the gym, as I’d been trying to get in shape for a holiday.

The pain got worse. I listened to my body and knew something was wrong and so I went to the GP. They dismissed my concerns because I was only 29, and said the pain was probably due to stress. I then had more symptoms: bouts of diarrhoea and constipation, so went back to the doctor, who suggested I address how much fibre was in my diet.

I noticed I had dropped a dress size, and then in April 2006 I noticed blood in my stools, so I kept going back and forth to the GP. I was feeling really weak and was in pain when I ate and would have to get up and move around. Still, my concerns were dismissed, despite these symptoms being big red flags for bowel cancer.

In August 2006, I was finally referred to a specialist at hospital, where tests showed a tumour — I had bowel cancer at the age of 29. Although I was scared, I was relieved to finally know what was wrong.

Treatment involved surgery to remove the tumour, as well as part of my bowel and my bladder, followed by six months of chemo.

In a way, cancer had a positive effect on my life: realising what’s valuable in life has pushed me to create adventures and live life to the fullest. I lost the ability to over-worry what others thought of me and think I am a better person for having a reality-check in life. 

I met my husband Aaron at my end of chemo party — he was friends with someone in the band. I created a bucket list. I climbed Mt. Kilimanjaro as my first challenge, and it was amazing! Since then, I have trekked through Peru and crossed the Sahara on foot.

Another shock came about 18 months after my diagnosis, when further tests showed that I carry one of the faulty genes that causes Lynch syndrome.

I felt like the Grim Reaper was standing behind me, it was a real struggle to get my head around it, but it does mean I get regular screenings and can be aware of the symptoms of other cancers I’m at risk of. 

"Learning to live with a stoma is a steep learning curve, but I'm getting there!"

Deborah Ward-Johnstone

What’s really interesting about my case is that it is what’s called a “de novo” mutation. This means my parents don’t have Lynch syndrome and we didn’t have a family history of cancer. No one really knows when the mutation happened but it’s thought that the particular sperm or egg cell I developed from developed this mutation, or that the mutation happened just after sperm met egg, and because of that, all of my cells have this mutation. 

We’d never have spotted Lynch syndrome based on family history because I’m the first in my family to have it, so I’m glad I was tested to be able to make decisions about the future as it would be a 50/50 chance of passing this onto any children I had.

This meant we had long discussions about having children. When my husband and I started dating I made him read literature about Lynch syndrome, I needed to give him the choice to "opt in". The topic of children came up fairly early and I was quite undecided.  Not having massively maternal feelings made the decision harder I think. Eventually, after years, I found some peace with the idea that I didn't want to pass Lynch syndrome on to a child. It is possible to do IVF and have the embryos tested for the mutation, only implanting those that don’t carry it, but there are age restrictions on that and I was quickly running out of time so we decided it was not something to rush into.

I planned to have my ovaries, fallopian tubes and uterus removed at the age of 43 to reduce my risk of ovarian and uterine (womb) cancer, but in the meantime I was diagnosed with bowel cancer again aged 41. This was identified via screening - my routine colonoscopy had shown something suspicious, with high-grade dysplasia (abnormal cells).  Within four weeks between colonoscopies, it turned into cancer. On the plus side, everything was still small, so we knew that the risk of spread was very low - a massive benefit to routine surveillance!

So the hysterectomy happened earlier than I planned, and at the same time as a surgery to remove all of my large bowel (colon), rectum and anal canal (called a panproctocolectomy). It felt drastic, whipping out a load of organs, but remove the organs and you hugely reduce the risk and I made this decision on the guidance of many consultants and after reviewing all other options.  

Histology showed no further spread, so chemotherapy was avoided this time, which was a relief.  Learning to live with a stoma is a steep learning curve, but I'm getting there! In fact I even bling it on the odd occasion, may as well own it (you can see my dedicated Instagram account here).

I’m now 43 and on hormone replacement therapy (HRT) to help with the impact of the early menopause.

Lynch syndrome initially felt like a death sentence. Although I do not like that I have it, I am glad I know, as it allowed me to catch my second cancer very early. So in a way, it turned into my saviour.

The thought of a genetic predisposition to cancer is scary, but there are people out there who can support you through testing and the results stages as well as "Lynchies" who are out there willing to support each other.  I've made Lynch friends who are really helpful, and in turn, I am happy to try to support others.  If you are concerned you may have Lynch syndrome please ask your GP to refer you for genetic testing.  Knowledge is power, and you could save not only your own, but the life of someone you love too."

You can use our Hereditary Cancer Risk Tool to assess your risk of having inherited a genetic mutation that could increase your risk of developing certain cancers. It's suitable for both men and women.