My family’s genetic condition is known as HPNCC or Lynch syndrome. HNPCC or hereditary nonpolyposis colorectal cancer is an autosomal dominant genetic condition that has a high risk of colon cancer as well as other cancers including endometrial cancer (second most common), ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. The increased risk for these cancers is due to inherited mutations that impair DNA mismatch repair. It is a type of cancer syndrome.
I sought out NIH in 1996 after learning that they were doing genetic testing for colon cancer. My older brother, my father and I all came down with colon cancer before we were 40 years of age. In fact, at 28 years of age, I was the youngest person ever diagnosed with bladder cancer in the state of MD – a label no one wants to receive.
I enrolled in the study without hesitation and agreed that I would have my 3 sisters, father, younger brother and my deceased older brother’s widow answer as many questions as possible. In addition, we would all participate in the study as well as all of the children of the infected siblings.
The process at NIH was involved but also very educational. At that time, genetic testing was extremely new. The staff at NIH was concerned about the well-being of our family - not only physically but mentally. They were extremely helpful.
My older and younger brothers, my father and I all tested positive for the HPNCC gene, and all three of my sisters tested negative. However, these results have no relation to gender. Two of my three children tested negative but my youngest daughter has chosen not to receive her results. She should have started her colonoscopies when she was 18 as that is the protocol – 10 years prior to the youngest person who had the cancer – myself with my cancer diagnosis at 28 years old.
Two of my brother’s children were negative and the third was unable to be tested due to his military engagement. My deceased brother’s children were all tested as well and all were negative.
I owned my own successful business right after high school up until roughly 1998 (24 years) when as an absent owner due to the recurrence of cancers and my treatments I was forced to close. I had always wanted to be a public speaker on genetic testing and cancer but unfortunately the lack of monetary support prevented me from making that a career choice. I always tell people that I am available to talk if they need an ear. I enjoy speaking informally at NIH classes whenever requested.
Since 1998 when I was diagnosed with ureter cancer, I re-developed bladder cancer in 2000. It was that year after battling cancer 6 different times with three different cancers that I won Coping Magazine’s “CANCER SURVIVOR OF THE YEAR”.
It wasn’t until 2010, that I came down with colon cancer once more at Stage 1. I fought and beat cancer my 7th time! I lost quite a bit of my colon with a second resection but recovered fully within a few months.
I had been cancer free since 2010, but in 2016, I had a colonoscopy and it was discovered that I had high grade dysplasia – one step before cancer. I had to have two more colonoscopies within two months to ensure that all abnormal cells were gone. The latest one was performed in a hospital since one of the polyps was particularly difficult to remove. Luckily, the results were all clear after the last one. It is a clear example of what constant monitoring can prevent!
Instead of my normal annual check-up, I will repeat the colonoscopy in 6 months to make sure nothing else develops. I have survived seven separate occurrences over a period of 35 years.
In 2012, my younger brother was diagnosed with his 2nd bout of colon cancer that had reached stage 4. He was extremely sick, but with my help I was able to have him treated by doctors who had helped me and he fully recovered. In 2016, he remains cancer free.
I was a pioneer. In 1997, I met with the House of Representatives who was assessing the impact of gene study on privacy. I had clear ideas on what the impact would be if gene-testing information was given out to employers, insurance companies and the like, voicing my concerns on behalf of the general population.
I remain steadfastly committed to living and to saving the lives of my family and all those at risk for hereditary cancers.