Living Beyond the Diagnosis: Lynch Syndrome Awareness

Writing for IHadCancer about Lynch syndrome, the most common hereditary cancer syndrome, has been an honor, especially as someone who has never had cancer. Lynch syndrome (Ls), an autosomal dominant hereditary condition, significantly increases the likelihood of developing colorectal, endometrial, and various other cancers. Ls is the primary cause of hereditary colorectal cancer.

Even though I have never had cancer, the impact of knowing I have Lynch syndrome is significant.

Lynch syndrome is not rare -- it affects over 1.2 million Americans, yet only 5% of them are aware they have it. Lynch syndrome is caused by mutations in mismatch repair (MMR) genes, including MLH1, MSH2, MSH6, PMS2, and EPCAM. These genes are crucial for repairing DNA replication errors, and mutations lead to an accumulation of errors, ultimately resulting in early-onset cancer—usually before age fifty. Because it is autosomal dominant, inheriting just one mutated copy of an MMR gene from either parent is enough to predispose an individual to Lynch syndrome. Each child of an affected parent has a 50% chance of inheriting the mutation. Lynch syndrome-related cancers often arise in individuals under the age of 50, a condition known as early onset. This highlights the urgency of vigilance and early detection in addressing the various Lynch syndrome cancers -- early detection of cancer is key because cancer is easier to treat in its genesis. If you meet one or more of the red flags below, I urge you to consult with your doctor and a certified genetic counselor: 

• Family member with a confirmed diagnosis of Lynch syndrome 
• Colorectal and endometrial cancer diagnosis at any age, particularly after pathology testing shows alterations related to Lynch syndrome
• Multiple primary cancer diagnoses
• Several family members have had cancers related to Lynch syndrome.

My paternal family medical history is marked with early-onset colorectal cancer. Learning about my genetic status was a life-changing experience. The discovery that my condition was hereditary meant that my family members, including my son, could also be at risk. Certified genetic counseling played a crucial role in my journey, helping me comprehend the significance of genetic testing and how to manage my health moving forward. 

Genetic counseling is vital for anyone considering genetic testing for Lynch syndrome. It involves discussing the hereditary nature of the condition, the specific risks associated with different MMR gene mutations, and the potential impact on family members. Genetic counseling will also help one understand the implications for genetic privacy, life insurance, long-term disability insurance, and other things one may want to consider before genetic testing. If one decides to proceed with genetic testing, one should meet with one's genetic counselor again to review the test results to understand the implications and how to proceed. 

For my family, it meant learning about the importance of frequent, meticulous screenings and drastic preventive surgical measures. Genetic testing confirmed my status and enabled me to make decisions and changes about my healthcare and lifestyle.

After being diagnosed and undergoing radical prophylactic surgical measures to reduce my uterine and ovarian cancer risks, I made significant lifestyle changes to reduce my risk of cancer further. This included exercising, adopting a healthy diet, cutting out alcohol, and, most importantly, taking a daily high dose of aspirin per my doctor's recommendation. Recent studies have shown that aspirin therapy can significantly reduce the risk of colorectal cancer in individuals with Lynch syndrome. Under medical supervision, regular aspirin intake has been found to slow down or even prevent the formation of cancerous cells in the colon. This approach is still being researched, but the results are promising and provide an additional preventive measure for those with Lynch syndrome.

I have focused on incorporating a plant-based diet and resistant starch into my preventive strategy. Regular exercise also plays a crucial role as it helps maintain a healthy weight and reduces inflammation, essential in cancer prevention.

It is important to find doctors who are well-versed in Lynch syndrome and its screening protocols. Medical management involves preventive measures, including regular cancer screenings. For those with Lynch syndrome, this often means more frequent colonoscopies and endometrial biopsies (if women with Ls decide to forgo prophylactic surgery) and other screenings based on individual risk profiles. These screenings are essential for early detection when cancer is developing early. When cancer is detected early, it is much easier to treat and can significantly improve outcomes.

Living with Lynch syndrome involves more than just medical management; it's an emotional rollercoaster, especially for those of us who have lost loved ones to Lynch syndrome-related cancers. The anxiety of regular cancer screenings, or "scanxiety," is a constant companion. "Scanxiety" is a term that describes the anxiety and fear associated with medical scans and tests. Many also grapple with "survivor guilt" -- feeling fortunate to have the chance to take action while their loved ones did not.

My older brother's death and my Lynch syndrome diagnosis propelled me into advocacy.

Through writing for various entities and social media, I aim to raise awareness about Lynch syndrome and support others facing similar challenges. Co-founding #GenCSM (Genetic Cancer Social Media) has allowed me to connect with a broader community, offering and receiving invaluable support. My advocacy work has afforded me opportunities to help others with Ls, which in turn has helped me reconcile my diagnosis. It's a powerful reminder that we are not alone in our struggles.

Medical advances have significantly improved since I was diagnosed with Ls over a decade ago. Recent strides in genetic research have provided more profound insights into Lynch syndrome. Newer diagnostic methods, such as next-generation sequencing, allow for more precise identification of mutations. Ongoing studies into targeted therapies that address faulty MMR genes could offer more effective treatment options.

There is ongoing research into vaccines designed to prevent cancers associated with Lynch syndrome. These vaccines aim to boost the immune system's ability to recognize and attack cancer cells before they can develop into full-blown malignancies. While still in the experimental stages, the potential of such vaccines offers hope for future prevention strategies.

Immunotherapy is a viable treatment option for those with Lynch syndrome-related cancers. Immunotherapy stimulates the body's immune system to target and destroy cancer cells. It has shown promise in treating various cancers, including those linked to Lynch syndrome. Staying updated on advances in immunotherapy ensures that I am prepared to consider all available options if needed.

Despite the challenges, living with Lynch syndrome has empowered me to make informed health choices, advocate for better healthcare, and support others, striving for a healthy, fulfilling life.

Photo courtesy of Unsplash.