My name is Brigitte N. Padin Feliciano and I’m from Puerto Rico. I have two sons: Dwayne Soto (8 years old), and Darrell Soto (4 years old). Since 3 years ago, my eldest son (Dwayne) began to have nails atrophy, oral leukoplakia and a little pigmentation in his ears. This led us to go from one doctor to others, making test and trying to find responses to his symptoms. On February 26, 2019 a Hematologist/Oncologist gave to my son a preliminary diagnosis of Dyskeratosis Congenita. Based on this, a Telomere Length Test was performed. The result was received on March 27, 2019 and it reflected a shortening of the telomere (6.23). Dwayne was referred to a Geneticist, who requested to performs a genetic panel testing to identify the mutated gene. Just on June 29, 2019 it was determined that the mutated gene is DCK1 (DKC1 c.1058>T, p. (Ala353Val.). The Geneticist told us that I am the carrier of the mutation. We don’t already have a test for our second son, but Geneticist told us that is higher the probabilities that he have the same mutation due to he started with oral leukoplakia. My second son (Darrell) also have a Jejunal Atresia with a Christmas Tree Deformity Type 3B. This is a deformity in his intestine. He go under 5 surgeries to repair the movility in his intestine but this is a condition for the rest of his live. Up to know, Dwayne not present new symptoms, only a progressive damage in his nails and more visible oral leukoplakia. All the routine test are goods. We just started this hard journey and the knowledge of doctors in this condition in PR is limited. That makes more hard the process for us.