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 had to keep hope. I needed to reorganize this new life: no daycare, fear, a lot of hospital visits, and the feeling of being alone. The pandemic helped us in a way: we were all isolated at home. On March 2021, at age 4, Milàn received a bone marrow transplant. We will never be able to thank the donor enough. All went well and after one year, he’s back in school. We are managing all the organs to prevent the most possible. He is enjoying a wonderful life full of friends, smiles, running, and dancing. One day at a time.