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.

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Damian CarbajalGene: TERC, RUNX1, U2AF1

Damian Carbajal
Gene: TERC, RUNX1, U2AF1

Hi, my name is Damian. I'm originally from Tucson, Arizona. After high school I joined the Air Force to work on RADAR jamming systems for fighter jets. I embarked on this adventure healthy and with no conditions in August of 2011. In 2017 I felt as if I plateaued in a...

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Diana PapazianGene: TINF2

Diana Papazian
Gene: TINF2

Bonjour, Diana est atteinte d'une téloméropathie , le diagnostique est tombé il y a un an. Elle avait quelques pétéchies et une prise de sang à révélée un niveau de plaquettes extrêmement bas (17000). On n'a cru d'abord à un PTI et les examens complémentaires ont été...

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Kaitlin DillonGene: RTEL1

Kaitlin Dillon
Gene: RTEL1

My name is Kaitlin Dillion, and I'm 24 years old. I was diagnosed with DC when I was 7/8. A couple of months later, at the NIH, I was diagnosed with Hoyeraal Hreidearsson Syndrome, a severe variant of DC. I was born 30 1/2 weeks premature. I had Moter and...

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Lorelei RobertsonGene: TINF2

Lorelei Robertson
Gene: TINF2

At 37 weeks of pregnancy, I sat anxiously across from my OBGYN, who reviewed a STAT ultrasound I had done 15 minutes prior. He looked at me and said, “It’s time to have a baby!” After two long days of labor, Lorelei (Rori) was born on an early Friday morning in April....

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Robin HuirasGene: TINF2

Robin Huiras
Gene: TINF2

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...

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Aidan YamashitaGene: Unknown

Aidan Yamashita
Gene: Unknown

Aidan was always a healthy and active kid. He was the one kid that was never home sick from school. When he was a freshman in high school, he noticed shortness of breath when he played ultimate frisbee. A trip to the pulmonologist provided us with an inhaler, with...

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Milàn Nardin PontaillierGene: TINF2

Milàn Nardin Pontaillier
Gene: TINF2

At age 3, Milàn’s skin was covered in petechiae. After a lot of tests showing that the platelets were abnormally low, the diagnosis came back: short telomeres with mutation of gene TINF2, Dyskeratosis Congenita. The doctor explained everything, this was rare and we...

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Callie RiveraGene: CTC1

Callie Rivera
Gene: CTC1

Callie has a story that took a long time to figure out! She was born prematurely in 2015 at 31 weeks and spent 40 days in the NICU. While there, the pediatric ophthalmologist noticed what he thought was ROP (retinopathy of prematurity) and she was treated accordingly...

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Remembering Marie CoffeyGene: TERT

Remembering Marie Coffey
Gene: TERT

The day my mammy Marie passed away she took a piece of me with her. I honestly never expected to lose mammy so soon and so suddenly. Every time she was sick, she recovered and bounced back, but bit by bit got tired of such a long fight. She only received her diagnosis...

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