The story of our daughter Marcelina – breaking our hearts and taking away our hopes… Not long ago I was sure that I am mum of three healthy, wonderful and dream daughters and there was nothing foretold a tragedy. Our third daughter Marcelina was born on 12th February...
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...
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...
