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...
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...
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...
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....
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...
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...