Martí’s

Story 

Martí is an incredibly joyful and loving four-year-old from Barcelona, Catalonia, Spain. He has a beautiful smile and brings happiness to everyone around him. Martí struggles with speech, motor coordination, social abilities, and some aspects of learning that require more time and support. However, with the support of therapies and family, he is making steady progress.

Variant: Arg192Gln

History 

When Martí was around six months old, we began to notice delays in reaching key developmental milestones. This led to a medical follow-up and, eventually, more extensive evaluations. After years of testing and genetic studies, we received a diagnosis of a CACNA1A-related disorder when Martí was 3 years old.

Martí has global developmental delays, with his most significant challenges being in speech and communication, writing, and social skills. At the age of 4, he is not yet able to speak in complete sentences and often struggles to express his needs effectively. He also continues to wear diapers, as he is not yet consistently able to communicate or manage toileting. These challenges affect his daily life, but with the support of therapy and family, Martí is making slow but steady progress. Milestones come with extra effort and support—and while the journey is hard, we continue to move forward, one step at a time.

Therapies and School

Speech therapy, physical therapy, psychological support, and psychopedagogy have all been very helpful in supporting Martí’s development.

He attends a supportive school environment with adaptations as needed and also receives therapies outside of school.

For those newly diagnosed

You are not alone in this journey. Take things one step at a time. Celebrate every small achievement. Surround yourself with a strong team of professionals and don’t hesitate to reach out to the community—we are stronger together.

Additional Information

We are very thankful for the CACNA1A Foundation. It’s hard that it’s so far from our hometown, but we want to help as much as we can and hope to connect with all the European families.

We have an Instagram account where we share Martií’s day-to-day - @petitivalent
It's in Catalan, as that’s our mother tongue, and it helps us to provide information about CACNA1A and everything affecting our kid to our friends, family, and local followers.