Where do I begin to describe my Alex? He was such an old soul filled with so much knowledge and love. Alex endured more in his sixteen years than most do in a lifetime, every medical obstacle was tackled with a smile and a pragmatic approach. Alexs main goal in life...
Although he never grew very tall, Peter Ramesh Futia lived large. Born with several genetic mutations, including the one on RTEL1 that caused his Dyskeratosis Congenita, he never let his challenges slow him down. Peter was diagnosed with DC at age 16 and enjoyed seven...
My name is Brigitte N. Padin Feliciano and I’m from Puerto Rico. I have two sons: Dwayne Soto (8 years old), and Darrell Soto (4 years old). Since 3 years ago, my eldest son (Dwayne) began to have nails atrophy, oral leukoplakia and a little pigmentation in his...
Grayson Little is 2 years old, diagnosed with Hoyeraal-Hreidarsson Syndrome/ Dyskeratosis Congenita. He carries two TERT gene mutations, inherited from each of his parents, Rachel and Leighton, and has Telomere lengths <1%tile. Grayson first experienced symptoms...
In 2015 our daughter, Megan, was diagnosed with moderate Aplastic Anemia, bone marrow failure at the age of 13. As part of that diagnosis process, she had extensive testing to try and determine the cause. That process included telomere length testing. We were told she...
Kaitlin, age 20, was diagnosed with aplastic anemia in 2005 at the age of 7. Before that she had significant developmental delay. The diagnosis of Dyskeratosis Congenita took two more years and a trip to the NIH to join the Inherited Bone Marrow Failure Study. Kaitlin...
