Lynch Syndrome: A Blessing in Disguise

November 13, 2018 by Leigh Floody
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Leigh Floody

Photo credit: Dana J. Palmer Photography

From a young age, we fantasize about what we want to be when we grow up – an astronaut, a doctor, a police officer, a fire fighter. We change our minds countless times, and for many of us, we spend our adult lives still figuring it out! However, for as long as I can remember, I have wanted to be a mom. For my first 29 years on this planet, I thought I had a pretty good idea of what that looked like, but on July 29, 2013, that picture changed dramatically.

Flashback to July 2012: I learned that my mother had Lynch Syndrome (a PMS2 mutation) following an endometrial cancer diagnosis, and that there was a 50 percent chance that it had been passed to my sister and me. I am a person that doesn’t want to know anything until I can know everything. So, looking back on it now, I’m surprised I didn’t decide right then and there to get tested myself. What I did do, however, was start researching – reading whatever I could get my hands on about Lynch Syndrome, our specific mutation, clinical trials, surveillance recommendations, family planning options, etc. I was careful about what I chose to read and from where. It can be very easy to get sucked down the “Dr. Google” rabbit-hole. Despite having reputable sources, I was overwhelmed but committed to learning everything I could about Lynch. Of particular interest to me was family planning, and whether there was anything I could do to prevent passing the mutation on to my future child(ren). I am not sure why, but I made a lot of decisions right then and there based on my research. It was very important that I be as informed and educated a decision maker as possible, so I armed myself with knowledge, before scheduling my own testing.

Almost exactly one year after we learned of my mom’s Lynch Syndrome, I went for my own testing. I hadn’t even been married a year and, quite frankly, was terrified of the potential outcome and what it would mean for our family. I am, admittedly, a control “enthusiast” and there was nothing I could do to influence the results of this test – 50/50 odds suck – but I tried to remain optimistic. The test itself was easy, but the waiting afterwards was torture. I made an appointment to get my results a few weeks later. This was my first taste of how stressful and anxiety-provoking waiting can be: the act of literally doing nothing other than anticipating an outcome, and trying to live your life as normally as possible. Little did I know that I would become an expert at waiting! I had inherited Lynch Syndrome from my mother.

Like my mom, many people receiving this news have also been diagnosed with cancer and have a mountain of other, more pressing decisions to make. Personally, I don’t even like to call it a “diagnosis.” I am not “sick” and while I don’t want to diminish the significance of having Lynch Syndrome, it is important to me to acknowledge the difference in my situation compared with someone with a cancer diagnosis. Opinions on what to do with this information vary widely. Personally, I wanted to take back as much control as I could in this out-of-control situation. I wanted to follow the surveillance and prophylactic surgery recommendations, and perhaps most significantly, I wanted to do everything in my power to keep my children from this piece of their inheritance. Before having my testing done, I read a lot on what options I had to prevent passing this gene on to my child(ren). With full support from my husband, we decided to pursue in-vitro fertilization (IVF) with pre-implantation genetic diagnosis (PGD).

I am over-simplifying a very long, complex and emotional process, but IVF with PGD gave us the ability to identify healthy embryos without the Lynch Syndrome mutation before implantation/conception. I was incredibly naïve about how “easy” the process would be – after all, I didn’t suffer from infertility, so it would be a snap, right? Wrong. IVF is not easy for anyone, regardless of their reasons for pursuing it. While my first cycle was considered extremely successful (based on numbers), we learned that all seven of the embryos that had been sent for PGD testing had the Lynch Syndrome mutation – an outcome that was essentially a statistical impossibility. More than a year of planning, preparing my body, undergoing invasive and sometimes painful testing, daily injections, dozens of appointments, thousands of dollars and countless tears, we had to start over. Several months later, after another long round of IVF, five embryos were tested and just after Thanksgiving in 2016, we got the incredible news that we had three healthy embryos that were free of the Lynch Syndrome mutation. Two months after that, we transferred one of those embryos and a very short, almost 38 weeks later, we welcomed Keira Piper into our family. She is the greatest blessing we have ever received, and I would do it all over and over again.

I have been asked numerous times why we would go to so much “trouble” to start our family. Before I got pregnant, I always said that I would prevent my future children from getting a hang-nail, if it were possible. In life, there is so little that you can control or influence. This was a rare opportunity to prevent something potentially devastating from happening to my child(ren). However, this is not to say that a Lynch Syndrome diagnosis is always devastating, but this information impacts everyone differently. My Lynch status has been very difficult for me and has honestly changed the trajectory of my life. I spend a lot of time and money seeing various doctors for surveillance and monitoring every year. I am planning to have a total hysterectomy by 40. I will likely have dozens of colonoscopies, endoscopies and uterine biopsies in my lifetime. On really hard days, I feel like a ticking time bomb: I don’t think about if, but rather when I will be diagnosed with cancer, even though the reality is I may never be! Keira will grow up seeing her mom at the doctor a lot, but hopefully she will understand that I am doing this as much for me as I am for her. The key to beating many cancers is early detection, and if I’m going to get cancer, I am determined to find it as early as possible. I plan to be around for a long time! I hope that as she gets older, she finds comfort in knowing that she will (hopefully) never have to worry about making these kinds of choices, and neither will her children. I know that I will never be able to protect her from everything, but I hope our choice will give her one less thing to worry about as she navigates her life.

Despite all the difficulties that Lynch has brought into my life, it has also been a blessing in a lot of ways. I have learned a lot about myself and my priorities; I feel empowered to take control of my health when I am able; and I have made an effort to be an advocate for myself and others, especially as it relates to health care. Our IVF journey specifically has made me really appreciate what a gift it is to be a mom. I am undoubtedly more grateful, relaxed and patient than I might have been were it not for our journey. Some might even say I am a little less of a control enthusiast, especially as a parent. Information is power, and what to do with that information is a serious, personal choice that should not be made lightly. The best advice I can give is to follow your gut and make the best decision for you and for your family. Do not be swayed or discouraged by the words or opinions of others. Surround yourself with people who build you up; they do not have to make the same choices as you to support you in yours. Educate yourself and be an open book to others who may be scared or embarrassed, or simply just want an ear to listen from someone who might know a bit about what they are going through. Choosing to look at my Lynch status as a blessing, rather than a curse, is a decision I try to make every day. It isn’t always easy, but it is absolutely worth it.

 

Leigh Floody lives in Fairfield, Connecticut, with her husband Thomas, daughter Keira and fur baby Lacey.