My mom passed away when I was 9 from complications of aplastic anemia and liver cirrhosis. During her time, she was only ever told her aplastic anemia was idiopathic. I was diagnosed with Dyskeratosis Congenita (TERC mutation) at 29, after begging and fighting with the insurance company for genetic testing, because I knew that it couldn’t have been a coincidence that we both had aplastic anemia. This diagnosis was VERY scary, especially because there wasn’t a ton of information out there, and many doctors had not even heard of it. I tried to remain positive and not focus on all of the “what ifs” since this disease process can encompass so much.
After getting sick in 2020, my blood counts never recovered, and I started the on the road of stem cell transplant. I was blessed to receive my first transplant in January 2021, but unfortunately due to many things including viral reactivation shortly after engraftment, I lost my graft. I was absolutely devastated and crushed. I lived in the clinic receiving blood and platelet transfusions weekly, it was exhausting. My unrelated anonymous donor was selfless enough to donate again, and I received my second beautiful gift of peripheral stem cells in April 2021. I had a lot of ups and downs, viral reactivation, sepsis, and now collapsing hips, but I am forever grateful to be alive and spending time with my husband daughter, and the rest of those I love.
Sometimes I worry about what may happen next, but I try to focus my life on gratitude and finding joy in the small things. My mantra through it all has been solely to “persevere”. We are strong individuals, and as a community within Team Telomere we are even stronger. My hope is that this organization will continue to provide support both physical and emotional for those suffering, and that through their fundraising efforts more treatment options and a cure may arise in my lifetime!