The story of Debs
De novo is a Latin phrase, literally translating to “from the new,” and in my case it lets my parents off the hook, thankfully it was neither one of them that passed on Lynch Syndrome to me, which means my brother and his children are not at risk. I am the first case in our family. According to an article in 2012 “This type of de novo event is rare in MLH1 as only three cases have been reported in the literature so far.” This makes me a pretty “special” in the words of my genetic counsellor! My consultants and genetic team have to work on the life care plan offered to a standard Lynch patient, as there are no trials or researches done on cases like me, we don’t know how being De Novo is going to affect me.
When I was diagnosed with bowel cancer at 29yrs, there was evidence of the disease for about 4 years. Following my re section and chemotherapy a life care plan is put in place to keep an eye on all of the cancers that I am susceptible to and an elective hysterectomy planned.
In individuals with Lynch syndrome there are high life time risks for:
colorectal cancer, endometrial cancer, gastric cancer and ovarian cancer. The risk for other Lynch syndrome-related cancers is lower, (urinary tract, small bowel, pancreas, brain, breast, though substantially increased over general population rates). Thanks to social media, lynchies from all over the world can talk to each other and provide emotional bolsters when needed.
A massive emotional journey that requires patience, understanding, but above all, humour.