Community Stories

Those who have been impacted by Dyskeratosis Congenita/Telomere Biology Disorders have a beautiful story to share. We want to hear your story and we want others to hear it too. We encourage you to use this forum to share your experiences, with the hope that it will offer encouragement to those who read it, and provide a way for families to connect and support one another. Team Telomere will also honor these stories through social media and printed materials. This forum is not intended as a vehicle for promoting other charities or personal causes. Therefore we ask that your submissions not include solicitations for donations or promotions of any kind. We reserve the right to edit content deemed inappropriate in this regard.

Share Your Story

Remembering Josh FriedmanGene: DKC1

Remembering Josh Friedman
Gene: DKC1

Josh Friedman was born on June 24, 1994 and passed away on November 18, 2011.  In between he made countless friends, was a Best Buddy at Unionville HS, an actor in multiple productions including his famous role of Tiny Tim in a Christmas Carol, was a camper at...

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Ruthie GregoryGene: TINF2

Ruthie Gregory
Gene: TINF2

Ruthie is 20 months old. She has recently been diagnosed with DC. More specifically, she has Revesz syndrome. She has many things that led us to this diagnosis. An esophageal stenosis, ataxic movement, balance issues, calcifications on her brain, etc. We are in the...

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Gabby StephensGene: TINF2

Gabby Stephens
Gene: TINF2

Gabby is a spunky kid living in New Zealand with her mum and dad, Megan and Andrew, and her older sister and brother, Ruby and Lachlan. Gabby's first trip to hospital was in November 2014 at the age of 4, following a blood test that showed blood counts were all rock...

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Remembering Alexander PintoGene: TINF2

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...

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Remembering Peter FutiaGene: RTEL1

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...

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Dwayne & Darrell SotoGene: DCK1

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....

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Grayson LittleGene: TERT

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...

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Megan ColterGene: TERT

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...

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Kaitlin DillonGene: RTEL1

Kaitlin Dillon
Gene: RTEL1

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...

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Send Us Your Story

Each community member who shares their story retains full ownership of it. You have the right to edit your story or request its removal at any time, ensuring that you remain in control of how your experiences are shared. We want to honor your voice and ensure you feel comfortable with how your story is presented.