My goal is to educate doctors around the globe about helping to diagnose Lynch syndrome and to continue to help patients who need support.
My father had colon cancer in his 40s, but fortunately it was caught early and he managed to live into his 70s. Twenty years ago, my oldest brother died at the age of 36 from colon cancer — diagnosed too late to treat. I started to suspect a genetic component to my family’s colon cancer and began having regularly scheduled colonoscopies while in my 20s.
A few years ago my other brother developed colon cancer in his late 40s. Fortunately his doctor knew about Lynch syndrome and recommended he be genetically tested. He tested positive — since each child of a parent with Lynch syndrome has a 50/50 chance of inheritance, I underwent genetic counseling followed by testing. I have Lynch syndrome, too, but fortunately have never had any cancers.
Lynch syndrome is caused by germline mutations in the DNA mismatch repair genes. This mutation has substantially increased risks of early onset cancers of the: colon and rectum, stomach, intestine, liver, pancreas, gallbladder ducts, upper urinary tract, brain, skin and if you are male, the prostate. Women with Lynch syndrome are also at risk of developing cancer of the endometrium, ovaries and breasts. Many of the Lynch syndrome cancers present themselves before one turns 50, and occasionally people are afflicted with more than one cancer. Understandably, people who are diagnosed with Lynch syndrome tend to find this sudden and apparent “early death sentence” emotionally taxing and difficult to reconcile.
My educational background included biology and a knack for research, thanks to the Internet and university access, I read all I could find. As a result I quickly took measures to decrease my chances of developing cancer of my reproductive organs and had them removed, primarily because current screening measures for ovarian cancer are not reliable. While I was trying to prevent cancer on one hand, I was opening myself up to a host of other medical issues for which I was unprepared. Being thrust into early menopause overnight, I developed other symptoms for which I wasn’t expecting and which none of my doctors warned me about: nausea, vomiting, lethargy, depression, hair loss, thyroid issues and more.
My negative experience from the prophylactic oophorectomy and my Lynch syndrome test result was the impetus for my blog: ihavelynchsyndrome.com. I created a website which addresses the emotional issues of holding a mutation for hereditary cancer, a site that I dearly wish would have existed when I was diagnosed with Lynch syndrome.
After spending time seeking out knowledgeable doctors for the various annual screening measures and tests, as required for Lynch syndrome, I found that the Mayo Clinic in Rochester, Minn., had all the requisite specialists linked through my patient coordinator and nurse. It appears that not many other hospitals have this ability to put specialists who discuss my specific condition and test results on my individual team. I could have all of my testing done within a matter of two days and would find tremendous solace knowing I was in stellar medical hands. My annual exam at the Mayo Clinic includes the following:
• Blood test
• Urine test
• CA-125 blood test
• Colonoscopy with blue dye to detect flat polyps which are common in Lynch carriers
• Skin exam
• Pelvic ultrasound
My blog has evolved over the past few years, and I have now applied for a not-for-profit status.
My goal is to educate doctors around the globe about helping to diagnose Lynch syndrome and to continue to help the Lynch syndrome patients who reach out to me; I help them find genetic counselors, doctors, clinical trials, psychologists, psychiatrists and medical institutions that are knowledgeable about Lynch syndrome. A great deal of time is spent listening to the patients who reach out to me — many of them just want someone else to talk to who can empathize with their situation.
With time, medical and psychological intervention, lots of reading for perspective, the support of family and friends, through my advocacy efforts, and living the healthiest lifestyle possible, I have come to terms with my diagnosis.
I have found that helping others in turn has helped me.
Georgia Hurst, MA
President and Executive Director of ihavelynchsyndrome.com