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...
Callie has a story that took a long time to figure out! She was born prematurely in 2015 at 31 weeks and spent 40 days in the NICU. While there, the pediatric ophthalmologist noticed what he thought was ROP (retinopathy of prematurity) and she was treated accordingly...
The day my mammy Marie passed away she took a piece of me with her. I honestly never expected to lose mammy so soon and so suddenly. Every time she was sick, she recovered and bounced back, but bit by bit got tired of such a long fight. She only received her diagnosis...
Ryan was born with DC Dyskeratosis Congenita and HH Hoyeraal-Hreindarsson, even though we were unaware till age 14 when he was diagnosed. When he was 21/22 years old, he was diagnosed as having CP Cerebral Palsy, sad to say we wished it was just CP and not DC. He had...
My beautiful daughter Genevieve was just diagnosed with a Telomere Biology Disorder with a DKC1 mutation. She is 2 years old. Obviously we are very new in this journey and hopefully have a long one ahead of us but we are very very thankful to have found Team Telomere....
