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