Julian Bukowy
There was no indication that we would have to face this cruel disease. Julek was an extremely premature baby whose difficult birth was the beginning of this sad diagnosis: Hoyeraal Hreidarsson syndrome. We knew nothing about this disease, except that Julka’s...
Marcelina Opolska
Gene: TINF2
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...
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 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 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...
