Aidan Yamashita
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...
Milàn Nardin Pontaillier
Gene: TINF2
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 Rivera
Gene: CTC1
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...
Remembering Marie Coffey
Gene: TERT
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...
