Meet Mateo
Living with Hypochondroplasia
Mateo, a 12-year-old boy living in Madrid, shares many of the same interests as his peers: “I play a lot of soccer. I’m happy, restless. I love to annoy my sister.” In most ways, he’s an average child—just one who happens to live with hypochondroplasia, a genetic skeletal dysplasia. The condition slows bone growth, which results in a shortened stature and may lead to bowed legs and limited range of motion.
Mateo’s family has supported him from the beginning, drawing a lot of support from connecting with the wider community. An independent patient advocacy organization based in Gijón, Spain, helped Mateo’s family to get in touch with other families like them, as well as doctors who gave valuable insights.
While they don’t see hypochondroplasia as a disease, Mateo and his family know that it does still present physical challenges. His parents, Mario and Clara, are heartened to watch him overcome obstacles and build his “toolbox, his ways of moving to be able to reach any area.” There are emotional and social barriers, too—Clara acknowledges the challenge that “while disabilities in the 21st century are generally respected and understood, people still laugh at our community.”
Through ALPE, we met other families with skeletal dysplasias, and we are one big community.”
These children can be whatever they want, just like everyone else.”
On Rare
