Remembering Alexander Pinto
Gene: TINF2

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 was to help others suffering...

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Remembering Peter Futia
Gene: RTEL1

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 years of relative stability...

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Dwayne & Darrell Soto
Gene: DCK1

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 ears. This led us to go from...

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Grayson Little
Gene: TERT

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 of bone marrow failure at 8...

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Megan Colter
Gene: TERT

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 had very short telomeres...

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