“How would I know if I had your rare disorder? Can’t it be passed down in the family? You’re my mom’s sister, so…” She stops speaking, and there’s a long pause.
On the phone with me is my 18-year-old niece. The panic in her voice is unmistakable — the fear of receiving a life-altering genetic diagnosis hanging in the silence.
“Don’t worry,” I calmly respond. “If you want, we can schedule you an appointment with a genetic counselor and have genetic testing done.” Until this moment, I had never been successful at persuading my family members to pursue genetic testing. This was indeed a proud spoonie-auntie moment.
As my niece was growing up, I took every opportunity to talk to her about health care, advocating for herself, and sourcing information so that she could make informed decisions. I got on my soapbox about the topic more times than she probably cared to listen. But I did this because I wanted her to understand the importance of genetic testing, especially for our family.
I had genetic testing done when I was 13, and doctors diagnosed me with a urea cycle disorder, a rare metabolic disease that is X-linked, meaning it can be passed down within families. Being diagnosed with a genetically inherited rare disease at such a young age was overwhelming, among many other emotions. Despite my age at diagnosis, family planning appointments with genetic counselors were a part of my treatment plan from the start. During the initial appointments, we talked about genetic biology, birth control, and more — it was essentially a sex education course.
Looking back, it felt early to have these conversations. As I became older and curious about the possibility of having children, we began to discuss reproductive options like natural birth, chorionic villus sampling, amniocentesis testing, egg selection, IVF with PGD, and surrogacy. These discussions were tough, but they were integral to my urea cycle disorder (UCD) treatment care plan and helped me develop my life goals and dreams with as much information as possible.
As someone living with a rare disease, I advocate for genetic testing because it gives you the knowledge and power to make educated choices. My test results were devastating, but receiving an early diagnosis allowed me to create a life I love while managing my inherited disorder. It has allowed me to advocate for the UCD community and others in the rare disease space.
I am proud of my niece for taking steps to learn more about her health through genetic testing, and I’ll be by her side throughout the journey as she takes control of her health and future — regardless of the outcome.
To learn more about urea cycle disorders and resources for the community, visit UCDinCommon.com.