When I was diagnosed with Lynch syndrome seven years ago, I began blogging about the roller coaster of emotions I experienced after undergoing genetic testing and prophylactic surgeries.
Georgia Hurst is a patient advocate for those with Lynch syndrome. She has the MLH1 mutation and fortunately has never had any cancer. She is the co-creator of #GenCSM (Genetic Cancer Social Media) on Twitter, and her advocacy work has afforded her opportunities to write for medical journals, various websites and genetic testing companies, as well as collaborate as a stakeholder for the National Academy of Sciences: Genomics and Population Health Collaborative. Her loves include: her son, her dog, books, photography, long walks in the woods, and seeking out fungi after the rain. Her motto is: "There is enough misery in the world – there’s no need to contribute to it.”
When I was diagnosed with Lynch syndrome seven years ago, I began blogging about the roller coaster of emotions I experienced after undergoing genetic testing and prophylactic surgeries. Most people who are diagnosed with a hereditary cancer syndrome have a first degree relative who have either developed early onset cancer or have died from it, or they themselves might have cancer. Many of us have been identified because we've been told by our family members we may be at risk and therefore underwent genetic testing.
One cannot truly fathom the implications of genetic testing until they go through it. Part of me really wanted to know about my elevated risks because I wanted to believe that I could assume some control over my genetic destiny if in fact I was positive. I felt tremendous guilt because I was afforded an opportunity my brothers were not. They both developed colon cancer – one died at the age of 36 and the other lost his entire colon at 48. After I opened my genetic Pandora’s box, I was overcome by a roller coaster of emotions.
I began reading about Lynch syndrome and other hereditary cancer syndromes to better understand genetics. Learning about other hereditary cancer syndromes and genetic mutations, specifically the ones which afflict children, gave me loads of perspective and helped me reconcile some of the diagnosis. Lynch syndrome is the most common hereditary cancer syndrome but it is not the worst. One of the worst and cruelest genetic mutations I have learned of is autosomal recessive dystrophic epidermolysis bullosa, also known as “butterfly syndrome”: a rare connective tissue disease which begins in infancy that leads to fragile blistering skin. I came to realize how fortunate I am not to have a mutation which has a physical manifestation which impairs my ability to function every day.
I went through most of Kubler-Ross’ 5 stages of loss; denial, anger, bargaining, depression, and finally, acceptance. I was very angry with the diagnosis and the swath of emotions which came with it. There are two things which are the most difficult for me to reconcile — the thought of my son possibly living without me, and the fact that he may also have Lynch syndrome.
You are not guaranteed the development of cancer with a Lynch syndrome diagnosis but you are at elevated risk. While I am at high risk for developing colon cancer at a young age, frequent, meticulous colonoscopies are my best defense against developing it, or at the very least, catching colon cancer early when it is most treatable. Most colon cancer is highly preventable and I am probably at lower risk than the general population for developing it now that I am screened religiously. My medical vigilance over the past seven years of knowing I have Lynch syndrome has paid off – I am still cancer free.
In order to address the anxiety surrounding my son, I had to dig deep and figure out exactly what the key issues were: what was I truly afraid of? Well, first of all, the obvious - leaving him motherless - but second, leaving him with the inability to properly care for himself. When my Mom died from a heart attack when I was only nine, I had no clue on how to do anything or how to take care of myself which only made matters worse. Yes, a great deal of my recent anxiety was brought on through the projection of my own childhood issues.
So, I have spent the past seven years addressing this. I have made him more responsible and self-sufficient. I have taught him how to cook several meals, do laundry, clean, to garden, to call in prescription refills, sending him off to overnight camp, encouraging him to travel abroad alone to visit friends and various other things which would only fuel independence. All of this has increased his self-confidence and has lessened my anxiety to some degree because I now know he’s a bright and capable teenager who can take care of himself and have set an example for being vigilant with your health. The fact that he’s getting older helps, too. He won’t be left to defend himself in the nest alone as I had been. He has his wings, can fly, and soar in high places now — if need be — this brings me tremendous solace.
I have not had my minor son genetically tested for Lynch syndrome – genetically testing children for hereditary cancer syndromes which usually manifest in adulthood is typically not a good idea. My hopes are that he will be genetically tested when he reaches adulthood and undergo frequent screenings in order to maintain his health. But if he decides not undergo testing, I will respect that wish, too.
I know there are many of you struggling with your diagnosis, especially if you just found out about it. Just remember that time heals most wounds. Take charge of your life; eat well, exercise, get your annual screenings, capture every moment life has to offer, and look within yourself for the strength you need to overcome your challenges. “Some people die at 25 and aren’t buried until they’re 75.” But my best advice to you is this: don’t let Lynch kill you before you’re dead. There’s a lot of love, happiness, and beauty in this world — with enough time, you to see these things with amazing clarity once again.