I was diagnosed with DC 35 years ago when I was 10 years old. I inherited a genetic variation in my TINF2 gene from my father, who, along with his identical twin brother was the first in our family to have DC. My blood counts were always low, but in my early 20s i was determined to have aplastic anemia, which led to numerous therapies and ultimately a stem cell transplant when I was 28 at the University of Minnesota. At the time, in late 2005, I was among the first DC patients to receive a non myeloid ablative transplant and thanks to donor cells from my unaffected brother I quickly engrafted. I was discharged after just 14 days and was back home 75 days later.

Fast forward a few years and, with the help of a donor egg, I became pregnant and delivered a earthy baby girl.

In the meantime, the scientists at the NIH, led by Dr. Sharon Savage, were studying my genes. In early 2004 I had enrolled my family in the Bone Marrow Failures Study at the NIH. Studying the genes from me and my four siblings, some of the affected, others not, and five cousins, some affected, some not, Dr. Savages team was able to identify the TiNF2 mutation as a driver for the disease. It was a tremendous boon for the DC community and personally because it allowed me to pursue having a second child using my own genetic material.

Fast forward again and in 2012, Aided by preimplantation genetic diagnosis, I had a second healthy baby girl, which was the first time a DC patient successfully used these technologies to have an unaffected child.

DC continues to impact me…mainly in my eyes and joints. I’ve had both of my hips replaced when I was 40 and have achy shoulders. My eyes are my main issue now, with a dysfunction of the stem cells in my eyes causing an ongoing corneal erosion.

But with an amazing care team at Mayo Clinic, and a growing body of clinical evidence and ongoing research – so much of it made possible by Team Telomere – I am more hopeful than ever that whatever the future holds I have options and, more importantly, hope.