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Lynch Syndrome, an ATM Mutation and Issues of Gender Identity and Fertility Access

November 01, 2022

Lynch Syndrome, an ATM Mutation and Issues of Gender Identity and Fertility Access

by Scarlett Shiloh (they/them)

Unfortunately, You Have Lynch Syndrome and an ATM Mutation

I remember exactly how I felt hearing my genetic counselor say the word “unfortunately.” On March 10, 2022, I found out I inherited Lynch syndrome (I have a mutation in an MSH2 gene) from my father.  On that day, my life and perspective changed completely. To say I felt scared puts it too lightly; I was terrified. Very gratefully, all my screenings came back normal, yet I still feared what was to come. After a hectic couple of months, I then found out in July that I also inherited an ATM mutation, a gene that wasn’t known in my family.  In humorous terms, I consider this year as my terrible “extrava-cancer-ganza.” Previvorship quickly became a prominent factor in numerous aspects of my life–notably, my gender identity and family planning.

Gender Diversity and Hereditary Cancer: More Understanding is Needed

Being a gender-diverse person with a predisposition to hereditary cancer is trying. I have been out as a non-binary for seven years. I experience social dysphoria, the deep discomfort that comes with being “seen” as a woman. The medical transphobia I faced was already bad enough (I roll my eyes whenever doctors write “She prefers they/them pronouns”) but my genetic mutation diagnoses made it tenfold worse. Breast, endometrial and ovarian cancer are perceived as “women’s” cancers and I am at high risk for all of them.

The research on hereditary cancer in gender-diverse individuals is sparse. This lack of research and widespread exclusion of transgender people ultimately led me to dismiss masculinizing HRT. Many resources are offered sans inclusion for transgender people. I used to feel strongly about asserting my gender identity; postdiagnosis, after all my appointments, it became no more than a repetitive chore.

Add in the Issue of Family Planning

Then, there was the question of family planning. My entire life, I was certain that I never wanted biological children. A couple of months before learning about my genetic mutations, that perspective began to shift. Being non-binary makes fertility a complicated subject. When I learned of my gene mutations it became an even more distressing topic. As I have no AFAB (assigned female at birth) relatives with Lynch syndrome, it’s hard to calculate my exact risk for endometrial and ovarian cancer. In addition, hereditary cancer mutations have a 50/50 chance of being passed onto biological children. With two high-risk mutations, the risk of my children inheriting at least one is 75 percent.

I can’t bear the idea of bringing a child into this world and making them deal with this. I explored the option of in vitro fertilization (IVF) and embryo testing. IVF is a valuable fertility alternative; however, it is exhausting, expensive (costing up to $10,000 or more per cycle; some people need multiple cycles) and many times it doesn’t work. With the guidelines recommending hysterectomies around age 30/40 for people with MSH2+, and my wish to not rush having children, so many factors inhibited my choices. None of that even took into consideration the lack of gender-affirming fertility care.

Focusing on the Present Can Help

At one point I realized that I had stewed in my grief and frustration enough. I wasn’t improving anything by cursing God, envying other people’s problems and “doomgling” (doom Googling, a Lynch syndrome original). I put my time into connecting with other previvors, finding dedicated and affirming doctors, and reminding myself to focus on the present. No one wants to get yearly colonoscopies (I hear “EVERY YEAR?” a lot) but the future me will thank the current me later on.

Resilience and Knowing I Have Choices

No amount of asking “What if?” will fix my genetic mutations. But I make decisions on what I do now. Despite the grief, I grew as a more grounded, resilient person. I started focusing on what I could improve, instead of dwelling. I started a new job, began the work toward a communication design certificate, picked up new hobbies and went on adventures with my loved ones. And for the problems that have no clear answer, a different question can be asked. Maybe I can’t or shouldn’t have biological kids but I can be a cool auncle to my friends’ kids instead. Or, if the opportunity arises, I can adopt or my spouse could carry for me. Perhaps many doctors don’t immediately get my gender identity, but there are plenty of trans-focused cancer support services that are available to help. 

If there were a magic wand that would both expand my options for fertility planning *and* end medical misgendering at large, would I use it? Maybe. But no such magic wand exists, and there’s not much use in wishing there were one. I’ll just keep being my awesome self and see where the future takes me.

Scarlett Shiloh (they/them) is a self-employed writer, designer and illustrator living in Massachusetts with their enormous cat Smurf. They are currently pursuing a certificate in communication design and can usually be found working from Starbucks. Scarlett was diagnosed with genetic mutations in MSH2 and ATM and also struggles with fibromyalgia and PTSD. To better handle the difficult emotions that come with previvorship, they work with the SMART module (Stress Management and Resiliency Training) at the Mass General Hospital Benry-Henson Institute.

Posted in: Stories , Fertility And Parenting , Previvor , Diversity And Inclusion
Tags: Hereditary Cancer , ATM , Lynch Syndrome , Health Disparities , Health Equity , Mental Health

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