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
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...
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...
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...
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...
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...
Remembering Ryan Messier
Gene: PARN
Ryan was born with DC Dyskeratosis Congenita and HH Hoyeraal-Hreindarsson, even though we were unaware till age 14 when he was diagnosed. When he was 21/22 years old, he was diagnosed as having CP Cerebral Palsy, sad to say we wished it was just CP and not DC. He had...
Genevieve Schmidt
Gene: DKC1
My beautiful daughter Genevieve was just diagnosed with a Telomere Biology Disorder with a DKC1 mutation. She is 2 years old. Obviously we are very new in this journey and hopefully have a long one ahead of us but we are very very thankful to have found Team Telomere....
Vincent Bergenblad
Gene: DKC1
Vincent was born in week 26 and weighed only 515 grams. We stayed in the hospital for 17 weeks until we were able to go home just before Christmas. After a couple of months, he started to get blood in his feces and he seemed to struggle when emptying his bowels. We...
Mike Huiras
Gene: TINF2
Hello, my name is Mike and I have a rare disease. It is called Dyskeratosis Congenita (DC) and it runs in my family. My father and my uncle (his twin) had it, two of my 4 brothers have/had it, and 3 of my cousins have it. Of my two children, my daughter also has it....