Living with Lynch Syndrome

Suzi dad

23 years after her father's death, Suzie Lismore underwent genetic testing and discovered that both she and her brother have Lynch Syndrome; a genetic mutation that increases an individual's risk of certain types of cancer. Suzie now wishes to share her experience to raise the profile of this little-known hereditary condition and its potentially devastating consequences.

"When I was six years old, my mum and dad sat my little brother and me down and began to explain: Dad had cancer and they didn’t know when — but he was going to die.  We’d known he was ill and had been for some time, but had initially been told it was food poisoning. This explained his special drinks (Conplan), as he was unable to eat, and the constant vomiting. 

 I remember thinking it couldn’t be true. Dad was only 38. Strong, playful and always making something — a bunk bed for my brother; a walk-in wardrobe for me; a massive train track on a piece of wooden board.  Things happened very fast after this.

Fast-forward 23 years and my brother and I have undergone genetic testing and found out we both have Lynch Syndrome.  Lynch Syndrome is a hereditary disorder caused by a mutation in a mismatched repair gene, in which individuals have a higher than normal chance of developing colorectal cancer, ovarian cancer, endometrial cancer, and others including stomach and kidney cancer (for more information about genetic mutations and hereditary risks click here).  

My mutation is in MLH1/PMS2; the genes that work in repairing mistakes that are made when DNA is copied in preparation for cell division.  This defect in the genes prevents the repair of DNA mistakes from happening and, as cells divide, errors stack up and uncontrollable cell growth happens, resulting in cancer.

Being tested wasn’t an easy process. I’d asked my GP for years if there was any screening I could have, as so many family members have died from cancer.  I’ve suffered with bowel complaints since my late teens and so I was under the care of a gastroenterologist and had undergone a colonoscopy, with another after a further flare up in my mid-twenties.  

Thankfully it came back normal.  During this time I’d had my eldest child and met Jo Stanford, who is now the Cancer Prevention Officer at Ovarian Cancer Action, at a NCT class. I’m grateful we kept in touch, as it was during a moan to her about genetics that she suggested I look into Lynch.  I mentioned this to my consultant who, after looking into my family’s history, went on to refer me for genetic testing.

"I was worrying constantly every time I felt different — or found a bump or lump that hadn’t been there before"

Suzie Lismore

I was definitely not expecting to have the mutation. I’d prepared myself mentally to look after my little brother, who I was convinced had it.  To say I was shell-shocked when I was told it was both of us would be the understatement of the century! I left in a daze with a small leaflet on Lynch and that was it.  I had a bit of a breakdown that day.  I literally could not keep it together.  There was nothing I could do; I was going to die.

Once I got my mind straight again, I started looking into screening for Lynch. This would involve 18 monthly colonoscopies and a hysterectomy. I’d already had a hysterectomy due to endometriosis, but I still had one ovary left to worry about.  I scheduled an appointment with my gynaecologist, who set me up for yearly CA125 blood tests and ultrasounds.  At the first sign of anything going bad he would remove the ovary, but I wanted to try to keep it for as long as I could, finally agreeing on 40.  

Just to add further excitement I also found two breast lumps.  After an MRI to check them, they found a further two, although the breast surgeon was pretty sure they were fine and wouldn’t become cancer. 

I started thinking about this fresh scare and the anxiety that had begun to take over my life.  I was worrying constantly every time I felt different— or found a bump or lump that hadn’t been there before. I decided it had to stop; it was ruining my life.  

I booked an appointment to see my breast surgeon and discussed my concerns with him.  He looked at my genetic history, a family ‘who’s who’ of who died from what and, as I had relatives who had had this type of cancer, I was eligible for prophylactic surgery if I wished. 

Finally, in January 2017, I underwent a bilateral double mastectomy, opting for a straight-to-implant reconstruction.  In my mind, it was the simplest form of reconstruction and with two lively children aged six and four, the most sensible option.  

It was simply the most painful experience I have ever had.  It took so long to recover back to full fitness, although thankfully I had no infections, just a massive haematoma in one breast.  Alas, I have had to have a further reconstruction and as I write this I am recovering from a revision operation to improve the final results. 

Although I have experienced complications I still 100% stand by my decision to remove my breasts.  My husband has been fantastic, he really has.  This didn’t just happen to me, it happened to him as well.  He has seen me at my lowest and most vulnerable, but he hasn’t run away, he has held me up."

Suzie John