Hamish was diagnosed with Dyskeratosis Congenita (more specifically Hoyeraal-Hreidarsson Syndrome) at 2 years old following almost 18 months of testing to determine the reason behind his critically low blood counts. Just 4 months after diagnosis, he was admitted in to...
In June of 2019, at 5 years old, we took Kyndall to her pediatrician because she was covered from head to toe in bruises and petechia. Her bloodwork showed critically low platelets and white blood cells so we were immediately sent to Omaha Children’s Hospital....
For generations, my family has suffered from illnesses associated with telomeres disorders. Since the rare TERC gene is a recent discovery, the cause of my family’s consistency with terminal illnesses was unknown for a long time. My father was the first to receive a...
Josh Friedman was born on June 24, 1994 and passed away on November 18, 2011. In between he made countless friends, was a Best Buddy at Unionville HS, an actor in multiple productions including his famous role of Tiny Tim in a Christmas Carol, was a camper at...
Ruthie is 20 months old. She has recently been diagnosed with DC. More specifically, she has Revesz syndrome. She has many things that led us to this diagnosis. An esophageal stenosis, ataxic movement, balance issues, calcifications on her brain, etc. We are in the...
Gabby is a spunky kid living in New Zealand with her mum and dad, Megan and Andrew, and her older sister and brother, Ruby and Lachlan. Gabby’s first trip to hospital was in November 2014 at the age of 4, following a blood test that showed blood counts were all...
