Thanks to Georgia Hurst for this insightful article based on her personal experiences as someone diagnosed with Lynch Syndrome. She describes some of the barriers she has faced with this diagnosis. Her blog is available at ihavelynchsyndrome.com
Matroyoshka Nesting Dolls by Georgia Hurst – ihavelynchsyndrome.com
I cannot help but think of those adorable Matryoshka nesting dolls when considering Lynch syndrome and its implications. Matryoshka nesting dolls are those cute, wooden Russian figures which separate, top from bottom, to reveal a smaller figure of the same sort inside, which, in turn, reveals another figure inside that, and so on. I think of those dolls as a metaphor for Lynch syndrome, sans the cuteness. The emotional toll of knowing you hold a deleterious gene mutation can be quite challenging and one Lynch syndrome issue leads to another, to another, and so forth. With that introduction, I am simply trying to raise consciousness in the elusive Lynch syndrome world about topics which are rarely discussed amongst the professionals who deal with Lynch syndrome patients. Doctors, genetic counselors, psychiatrists, psychologists, and others need to be cognizant that people with Lynch syndrome are dealing with a constellation of emotional and possibly physiological issues as a result of this diagnosis and the recommended surgeries.
Lynch syndrome, also known as Hereditary Non-Polyposis Colorectal Cancer: HNPCC, affects approximately 600,000 people in the United States; yet, only approximately only 5% of us know it. Lynch syndrome is typically associated with a significantly increased risk for colorectal and endometrial cancers and is caused by mutations in following genes: MLH1, MSH2, MSH6, PMS2, and EPCAM. Cancers potentially stemming from Lynch syndrome include: colorectal, endometrial, gastric, ureter/renal, pelvis, biliary tract, small bowel, pancreas, brain, sebaceous carcinomas ovarian, prostate in men, and breast, endometrial and ovarian cancer in women. Lynch syndrome warning signs include early onset cancers (<50y) in one’s family history, specifically colon cancer, endometrial cancer, and/or two or more other cancers in the same individual, or among their close relatives.
My Lynch Matryoshka dolls exposed a plethora of new challenges and I did not have even one of those cancers. I took the prophylactic measure of removing my reproductive organs to prevent malignancy to them and was fortunate enough to ‘only’ have a hysterectomy and bilateral salpingo-oophorectomy. At the time of the surgery, I was a healthy, fit 40-year-old-woman – ten years, or more, away from menopause and doctors completely minimized what was to happen to me with this surgery, assuming that the “one size fits all approach” to medicine would with work with me. I was told that a hysterectomy and bilateral salpingo-oophorectomy were not such a big deal for a woman of my age and that I would be fine with a low dose of estrogen and an antidepressant. Unbeknownst to me, my physiological and psychological response to the surgery would end up highly taxing to say the least. The convalescence from surgery and further testing for Lynch syndrome screenings required a number of doctors’ visits – to some doctors who did not know about Lynch syndrome, nor would they take the time to find out, or were too arrogant to refer me elsewhere. A physician’s lack of knowledge regarding a deleterious gene mutation can only fuel a patient’s existing fears and anxiety. It is comparable to throwing the patient into dark, shark infested waters, and not telling them which way to swim; a very frightening position to be in for a person who already feels like a walking time bomb.
My first, big doll is the Lynch diagnosis of MLH1 followed by the dolls of: doctors who do not know what Lynch syndrome entails; depression; anxiety (especially over the thought of the gene mutation being passed onto my child); surgery; hormone replacement (over several months); antidepressants (and their charming side effects); hot flashes; frustration over family members ignoring pleas to get tested; loss of appetite; lethargy; stressors on family; personality changes; feelings of despair, isolation, frustration, anger; insomnia; debilitating nausea; vomiting; headaches; hair loss; and the anxiety of annual testing. Each doll is either an emotional manifestation of knowing I have Lynch syndrome, or a physical manifestation of the prophylactic surgery, and occasionally, a doll can be a result of both.
I am not your typical patient and am probably considered an anomaly in the medical world as far as patients are concerned; I have always been vigilant with my health due to my extensive background in biology and have become my greatest advocate against Lynch syndrome. Even though I live in Chicago and have access to exceptional healthcare, I still had to find doctors who knew more about Lynch than I did. Of course, I know there are thousands of genetic mutations, I could not expect every doctor to be familiar with every single one, but there should be some measure in place for physicians, at the very least, to provide patients in such precarious circumstances with some level of care, whether it be a referral, or through some other form of support. A number of doctors I sought out for the various required screenings did not know what Lynch syndrome entails and what screening involves, or bothered to find out. Frustrated I sought a referral from a friend of mine, who happens to be a neurologist; he referred me to one of the top oncologists in Chicago, and thought this oncologist could help me in taking preventative measures against Lynch syndrome. They knew I was there for Lynch syndrome and yet the oncologist had not known, or researched Lynch syndrome prior to my visit, and told me there was nothing they could do for me. I refused to believe them and continued my search beyond Chicago.
Through research, I found a specialist at Mayo Clinic and have the good fortune to visit her and the rest of my ‘team’ on an annual basis. I make one phone call when need to come in for my annual testing for Lynch syndrome and they take care of the rest. My screening at Mayo Clinic consists of: a CT scan, an annual colonoscopy, an upper endoscopy with extended duodenoscopy, CA-125, a urinalysis with cytology and renal ultrasound, a mammogram, and a dermatological exam to screen for sebaceous adenomas, carcinomas, keratoacanthomas. Currently there is no screening for brain cancer because the screening modality for it has not been shown to be effective at detecting cancers early or reducing morbidity and mortality if detected early. The physicians at Mayo know which tests to conduct, how frequently they must be done, which doctors are best suited for each test, and are capable of completing the various scopes and tests within of two days. My medical care requires a huge collaboration amongst doctors who know their stuff. I take great comfort in knowing that I am in stellar hands, within the confines of leading medical facility, and this in turn relieves a great deal of my anxiety.
This combination of specialists, each highly knowledgeable about Lynch syndrome, and who can discuss each patient’s unique circumstance among themselves is, I have found, an exceptional reassurance. I hope that many more such ‘teams’ will be set up for those who have Lynch syndrome.
There are several proactive measures one can take to prevent cancer and influence their gene expression.
I believe, and mounting evidence supports this, there is a constellation of factors regarding whether or not one develops cancer. Along with annual screenings and stellar medical care, I believe a healthy plant-based diet, exercise, stress reduction, meditation, and a sanguine personality will combat my deleterious gene mutation. There are many factors which effect your gene expression and whether or not you survive cancer, and I use Stephen J. Gould as my best model.
Gould was an esteemed evolutionary biologist from Harvard and was diagnosed with peritoneal mesothelioma and even with surgery, his prognosis was not good – according to the statistics, those with this particular disease typically have eight months to live. Fortunately, his professional training as an evolutionary biologist required a strong familiarity with statistics and he knew how to decipher the data. This inspired him to write an article for Discover magazine entitled, The Median Isn’t the Message, discussing how statistical averages are simply abstractions – they do not include the full range of variation. Gould applied this thinking to his medical situation and figured out that his circumstances would put him in the upper statistical range for a number of reasons: his cancer was detected early, he was young, had access to great medical care, possessed a positive attitude and was willing to take risks with experimental treatments. Gould managed to survive for 20 years until another cancer, metastatic adenocarcinoma of the lung, ended his life on May 20, 2002. His story and thoughts have been inspirational for many cancer patients.
My most recent Lynch doll was the result of the psychological toll of knowing I have Lynch syndrome. The physiological toll and the physicians’ minimization of having the oophorectemy at a young age, and having experienced menopausal shock, prompted me to create a website called: ihavelynchsyndrome.com. I have tried to create a site mostly for previvors, people who have Lynch syndrome but do not have cancer; a site I would have liked to have found when I was diagnosed, where nothing is sugar-coated and where others may seek validation for the myriad of emotions as a result of the diagnosis. I deal with the daily, complex, emotional aspects of having a deleterious gene mutation; and yet, at the same time, try to provide my readers with some solace and encourage them to make positive changes to their lifestyle. My most recent doll has provided me with a cathartic outlet, whilst helping others who are coming to terms with their diagnosis. It has provided me with a platform to give a voice to an elusive, heinous syndrome, which can be controlled to some degree, with endless vigilance, screenings and living well.
Georgia Hurst, MA
Georgia Hurst’s blog: Ihavelynchsyndrome.com