The first signs
When Martí was about six months old, we noticed he was taking longer than expected to reach his milestones. That was the beginning of years of medical appointments, tests and genetic studies.
At three, the answer arrived: a variant in the CACNA1A gene, Arg192Gln (R192Q).
Day to day
Martí has a global developmental delay, especially in speech and communication, writing and social skills. Speaking is his biggest challenge, and it is often hard for him to tell us what he needs. He also has difficulties with motor coordination and with some aspects of learning.
With speech therapy, physiotherapy, psychological support and educational psychology, he is making progress: slow, but steady. He goes to a school that adapts to him, and he continues his therapies outside school.
