Amanda: My Lynch syndrome journey began not long after my chemotherapy and surgery.

After her symptoms were initially put down to a pre-existing heart issue, Amanda was diagnosed with stage 3B low grade serous ovarian cancer and had genetic testing due to her family history. Here she tells us about her experiences being diagnosed with Lynch syndrome.

Before my ovarian cancer diagnosis I was really fit and healthy, though I did have a congenital heart condition that was diagnosed when I was a child. Several medical professionals assumed my symptoms were down to this and I was frustrated by the number of times I had to say “I’m not well, please help me”.

Eventually, I was so poorly I ended up in A&E and was diagnosed with stage 3B low grade serous ovarian cancer. When it came to my treatment, I was told that the chemotherapy that could save me could damage my heart further, and so could kill me. If I didn’t have the chemotherapy, I had only six months to live. I felt I had no choice but to try. My heart is damaged from the chemo but this is eight years on and I’m here, whereas I only had six months to live if I didn’t do it.

My Lynch syndrome journey began not long after my chemotherapy and surgery.  

I’d established the fact with my oncology team that my maternal nanna had died of ovarian cancer, and mum and her sisters had all had bad fibroids so had all had hysterectomies in their 40’s. My team where curious if there was a genetic link to my nanna’s cancer, so on the ward after surgery I was offered genetic testing.  

At that time it was also discovered that in my paternal side an auntie had had breast cancer and was found to have a BRCA mutation. Two years before my diagnosis my dad had died of prostate cancer at 69. So my family history pointed to genetic fault.

The results actually astounded me - I was negative for BRCA. I was positive for Lynch syndrome.  The only way to check if Lynch was genetic was to test my parents.  Mum tested negative for BRCA mutations and Lynch, despite nanna’s cancer. Dad was impossible to test, being deceased.

I still had questions, and the only way we could prove that it came from dad was for my two brothers to be tested. I felt it was imperative that we search for a link as I didn’t want the younger members of the family going through what I’ve been through.

The brother who looks most like mum’s family tested negative. The other brother who looks more like dad and I has refused to test, saying mum and brother are negative. He also doesn’t want to see his potential future - which I’m completely fine with. I respect his decision, even though it means I’ll never get my own answers.

The genetic team said that because of my family history they will test other family members when they reach eighteen if they so wish.  My maternal cousin was tested and she’s negative for mutations.

My niece, now nineteen is fighting GPs to get tested for endometriosis, I have told her to give them my history. I was wondering how to tell her she can be genetically tested for mutations when she actually said “Auntie Mand, I know I can have a blood test, they said, but I don’t know if I want to yet,” so the conversation is already being had.

I don't have kids myself - I decided as a teen that I wouldn't want them potentially getting my heart condition, or losing their mum to heart complications in the future.

I feel extremely privileged that my nieces and nephews talk openly about my cancers.  

I'm supposed to have bowel monitoring every two years by my hospital, but neither the GP or my hospital have followed up since my one appointment with the bowel team in 2018. Unfortunately, I couldn't do the trial of taking aspirin every day to potentially prevent bowel cancer because I had a rare side effect from chemotherapy that completely damaged my already defective heart, resulting in my now being on warfarin for life due to needing a mechanical heart valve.

As for Lynch, part of me wishes I'd never found out as I've had so much to deal with since birth and it scares me to think what my future could hold. But, for the sake of my family I needed answers as to why the hell I managed to get so many rare conditions.

Perhaps I'll never really know.

Am I still angry? Yes. Can I do anything about it? No. So do I worry about it? Yes, no, maybe, depending on my mood on the day.  The one thing I do know is that life has to be lived - there's always something really good in the day, you just have to look for it.  Thank goodness I have the best family and friends. Especially those that see me for me and accept my limitations. In some ways I'm a very lucky lady. My oncology and cardiology teams are the best in the world.

I don't blame my parents as you can't choose how their DNA blends in the womb, things happen - but you can choose how to deal with it. You can say, yes I've got it, yes it's rubbish, but look, I've got a life, and I'm going to live it the best way I can.

Click here to find out more about hereditary cancer and risk.