A Beautiful MRKH Life

By Amy Lossie, 2013-15 Executive Branch Fellow, National Institutes of Health

I was 16 years old and wanted nothing more than to fit in. Instead, I was diagnosed with a difference/disorder of sex development (DSD) that results in primary infertility. “You’re a freak” kept running through my head. Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH) is a DSD that causes the underdevelopment of the uterus, cervix and upper vaginal canal. It shattered the plans I had for my life. Feeling isolated and alone, I questioned my self-worth and identity as a woman.

For a long time I kept my diagnosis secret. When friends started having babies, I put on a brave face and congratulated them. I focused on my career, earned a PhD, and pursued a postdoc at a competitive medical school. By the time I was financially stable enough to consider having a child by in vitro fertilization using a gestational carrier, I was approaching 35. My best eggs were long gone and I knew my chances of success were very low.

A few years into the tenure clock as an assistant professor, I joined an online support group and got angry with the medical misinformation I found there. With the encouragement of a mentor and the help of a partner, I launched a thriving nonprofit, Beautiful You MRKH Foundation, to form a community of women with MRKH and health care professionals to increase awareness and empower women.

My next big leap was making the difficult decision to leave a tenure track position to pursue a AAAS S&T Policy Fellowship. Happily, the fellowship has been one of the most rewarding experiences of my career and my life. Instead of pursuing an elusive NIH research grant, I’m pushing the edges of research. In the NIH Office of Behavioral and Social Sciences Research (OBSSR), I’ve been fortunate to be able to merge personal priorities with science policy.

Aware of my interest in DSD, my supervisor connected me with the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), which was in the midst of planning a DSD meeting in March. To my surprise and delight, they asked me to help plan the meeting. The draft agenda focused primarily on the voices of pediatric urologists, geneticists and psychologists, instead of pediatric and adolescent gynecologists who see DSD individuals across the age spectrum. Their omission meant there was a gap in the program – MRKH is not typically diagnosed in early childhood, but rather during the teen years. I seized the opportunity to improve the event by convincing organizers to include two pediatric and adolescent gynecologists on the agenda. 

After the meeting, I wrote a policy piece, “Building Trust: The History and Ongoing Relationships Amongst DSD Clinicians, Researchers and Patient Advocacy Groups,” that will be in an upcoming special issue of Hormone and Metabolic Research on DSD. My efforts have also impacted NIH-sponsored research priorities on DSD, and language was added to various research strategies that include: addressing the psychosocial well-being of affected individuals and their family members; a call to focus on patient-centered care; and, a provision that research be conducted on the long-term psychosocial, medical and quality of life implications of sometimes irreversible decisions made in early childhood and adolescence.

My experiences as a fellow demonstrate the impact one person can make on directing the avenue of scientific discovery. Most recently, I’m excited about my new position as a health science administrator in the NIH Office of Disease Prevention where I hope to continue to push the edge of biomedical research.