Beyond BRCA: Lynch Syndrome

Georgia and her son

This article is part of a series built to highlight rare hereditary cancer syndromes. Here's Georgia's story of living with Lynch syndrome.

Genetic Counseling Note: Lynch syndrome, also called Hereditary Non-Polyposis Colorectal Cancer Syndrome (HNPCC), is an autosomal dominant condition that can be caused by a mutation in one of at least 5 different genes (MSH2, MLH1, MSH6, PMS2, EPCAM). People who inherit one mutation in any of these genes have a high lifetime risk to develop colorectal cancer, and female carriers have an increased risk to develop uterine and ovarian cancers. However, those risks vary greatly depending on the gene involved. The cancers found in Lynch syndrome are often early-onset, and can include other cancers, including those of the skin, genitourinary tract, brain and other gastrointestinal tract cancers.  

Tell us a little bit about yourself

I’m 45 years old and I love politics, reading books, writing, gardening, hiking, and spending time with my family.  I’m also passionate about my advocacy efforts for the nonprofit ihavelynchsyndrome.com and #Hcchat (Hereditary cancer chat).

How did you learn you have Lynch syndrome?

My father, who survived a diagnosis of colon cancer in his forties, died of cirrhosis at age 74. After having lived far from family for many years, I moved back home after my father died. Soon after, my brother Jimmy was diagnosed with colon cancer at age 35, and died at 36 in 1995.

After my brother Jimmy died I realized there must be some sort of connection of the cancers in my family. My father, paternal aunt, and brother all developed early-onset colon cancer. My husband had a cousin who was a gastroenterologist and I shared my family history with him. He arranged for me to have my first colonoscopy at age 25 based on my family history, and luckily it was normal. I continued having frequent colonoscopies based on my history, but it wasn’t until 2010, when my second brother was diagnosed with colon cancer at age 48, that his doctor brought up Lynch syndrome and genetic testing. That brother was found to carry a mutation that causes Lynch syndrome. I made an appointment with a genetic counselor and also tested positive. Three weeks later, at age 40, I had my ovaries and uterus removed prophylactically. I thought I was making an informed decision, but in retrospect, everyone had minimized the negative impact of having this surgery – they were focused on reducing my cancer risks. There was little to no discussion on how this surgery would impact my quality of life – the impact was enormous and immediate.

I was looking for support on-line from other women who were going through what I was experiencing (depression, loss of perceived femininity, loss of sex drive, negative body image). Instead I found that many members of the existing on-line communities said I should be happy I had prophylactic surgery, and not cancer, and shouldn’t complain about quality of life. The prophylactic measures women were taking were being minimized. This led me to start writing a blog about my experience for other women going through the same, and that led to ihavelynchsyndrome.com. I have built a vibrant community in the hereditary colon cancer space in which sharing our candid experiences is welcomed.  

You’ve been very outspoken about what it was really like to have your ovaries and uterus removed at age 40 and the negative impact it has had on your quality of life. Knowing what you know now, how would you speak to other Lynch patients considering this surgery?

For most women with Lynch syndrome, it is probably a good idea to have these risk-reducing surgeries - but don’t think for one moment that they don’t come at significant costs.

Research all you can. Make sure you speak to a certified genetic counselor. Be sure your gynecologist is patient, compassionate, and is willing to go the distance with you after you’ve had your ovaries removed. If you are a candidate for hormone replacement therapy, please note that it may need to be tweaked over a year or so until the right levels are found. Know that the age at which you have the surgery, and specifically how close you are to natural menopause, will hold implications for how many side effects you experience after the surgery. Go into this decision with as much information as you can.

You had a poor relationship with your father. How did that complicate your inheriting a Lynch syndrome mutation from him?

My mom died suddenly of cardiac disease when I was nine and my father, an alcoholic, was not equipped to raise a young child, and my older siblings had either left home or were ready to leave. My father was emotionally abusive towards me. For me, it is hard to reconcile my Lynch syndrome diagnosis after my poor relationship with the parent who was the mutation carrier. I was very angry to discover I inherited Lynch, had to remove my ovaries, and then worry about my son possibly having the same. Writing about my feelings, without any sugarcoating, has really helped me. Helping others through my advocacy efforts has also been instrumental in helping me reconcile the diagnosis. I believe everyone can find a way to take something negative and turn it into a huge positive.

Has there been any silver lining of having Lynch syndrome?

Yes. I met Amy Byer Shainman during a tweet chat a few years after my surgery and she is now one of my closest friends. Through Amy, I was introduced to the BRCA community. Many of these women had also had their ovaries removed before menopause and could relate to the feelings I was having in surgical menopause. I’ve made some great friends in the BRCA community. They are organized, very empathetic, open, honest, and wonderful. I’ve learned so many lessons from them about advocacy that I’ve been able to carryover to the Lynch community. There’s another person who’s made a significant difference in my life, too. Her name is Ellen T. Matloff – her staunch support for my advocacy efforts has overwhelmed me.

What do you want people to learn on Lynch Syndrome Awareness Day?

You need to see a certified genetic counselor to assess your risks. The genes for Lynch syndrome are associated with different risks and recommendations for surveillance and prophylactic surgeries. It’s not one-size-fits-all. You cannot advocate for yourself properly if you don’t know this information. Most doctors don’t know about these subtle differences within Lynch syndrome. Removing body parts is a big deal and may affect the quality of your life. Be vigilant with your health and screenings so that you can increase the likelihood of making the best decisions for yourself and your family. Talk to your doctor about aspirin therapy.