Annika Perdomo, 54, from Warwickshire
"I was diagnosed with bowel cancer over five years ago when I had just turned 49. Being told I had bowel cancer was devastating and shocking, not only for me but all my family too. It didn’t make sense, especially as I wasn’t ticking the boxes for having this sort of illness.
"I had surgery a few weeks later to remove a large section of my colon, which contained the 11cm long tumour. It was only after treatment that my family history of cancer was discussed and I was eventually referred to a genetics counsellor by my colorectal nurse specialist.
"At this point I was tested and eventually diagnosed as having Lynch syndrome. Prior to this the possibility that my cancer might be hereditary was never really discussed, no one asked me in detail about my family history and I was never aware of having the blood test (provisional molecular screening) at the time I was diagnosed with bowel cancer. Overall it took about a year from first being referred for testing to having Lynch syndrome confirmed. Getting the results of the genetic test took seven months alone.
"While I was given some information which explained my diagnosis and outlined what care I should receive, I wasn’t given a personalised written care plan and I had to supplement the information I received with my own research. Although I have been provided with a dedicated healthcare professional who manages my care, I feel I have to keep on top of it otherwise I sense I may be forgotten in the system. I now have to have a colonoscopy every other year.
"Having never even heard of Lynch syndrome before, it began to make sense why I may have had bowel cancer. My paternal grandmother had died of bowel cancer at 69 years old, my father of a brain tumour at 68 and my paternal aunt of a primary endometrial then secondary liver cancer at 64.
"From my understanding, these are all potentially Lynch syndrome related cancers. Of course, we were not aware before my illness of any link between these family deaths.
"Unfortunately, three of my siblings have since tested positive with the genetic condition.
"Lynch syndrome is very scary due to the fact that tumours can apparently grow more rapidly. It was for this reason that I opted for preventative surgery three years ago by having a full abdominal hysterectomy to rid the chance of me ever having an endometrial cancer. My sister, who also has Lynch syndrome, had the same preventative surgery two years ago.
Overall it took about a year from first being referred for testing to having Lynch syndrome confirmed. Getting the results of the genetic test took seven months alone.
"Sadly, there’s a 50:50 chance of my daughter having Lynch syndrome too. She will be tested when she reaches the age of maturity, as will my nephew and nieces. But the major difference for them is that they will be screened and monitored from an early age. Unlike me, any symptoms they may be experiencing however young they are at the time, their GP will now at least sit up and listen because of the family diagnosis.
"I’m really grateful for how quickly they dealt with the rest of the family in getting them screened and tested once I had the diagnosis. If they hadn't worked so speedily, perhaps my sibling's undetected cancer may have spread. Fortunately, they caught it in time. But I feel my experience of being diagnosed with Lynch syndrome could have been improved if there had been a speedier referral to diagnosis process, especially as I was under 50."
Time to Test campaign
Lynch syndrome is a genetic condition that dramatically increases the risk of bowel cancer to up to 80%, as well as many other cancers.
We want everyone to be tested for the condition at diagnosis of bowel cancer. It’s vital patients are tested, so they can take steps to reduce their chance of dying from bowel cancer.
Sadly, our research shows that 80% of hospitals in England are failing to test. We’ve been campaigning through our Time to Test campaign to make real change happen.