2025 CACNA1A 5K

Matteo was born at 37 weeks, he was  induced because his heart beat was going down and slow. After birth he spend 5 days at NICU because he was having some tremors. Drs . Did all the requires test but everything came back normal. At 8 mo Matteo wasn’t completing all the milestones, he was behind in all of them. So he was referred to Early Intervention, where he was initially diagnosed with Hypotonia in his central body. He started physical and occupational therapy right away. By 18 mo he wasn’t speaking so he started speech therapy. At 23 mo during a “cold” he had his first seizure. He already was seen by a Neurologist because of his developmental delays but every test and study that she sent to perform on him ( MRI, CT Scan, blood work for his muscle bones, cromosomas, etc.) came back negative. Until his Mom asked the Neurologist for a genetic test. He came back positive for CACNA1A gene mutation.  CACNA1A is a gene that is essential to brain function. Our brains communicate by sending electrical signals between brain cells (neurons). If the CACNA1A gene does not work as it should, because of a pathogenic (disease-causing) variant (sometimes called a “mutation”), then the brain's electrical signals are affected. Pathogenic variants (“mutations”) in the CACNA1A gene cause a range of neurological and developmental disorders, including epilepsy (mild to severe), episodic ataxia (periods of unsteadiness and poor balance), hemiplegic migraines (rare and severe type of migraine that involves weakness or paralysis on one side of the body), atypical eye movements, developmental delays, and autism spectrum disorder. The symptoms a child experiences and the severity of the disorder can vary widely and will depend on the particular CACNA1A-related disorder the child has. Regrettably Matteo have all these symptoms. He started walking independently a month before turning 5 yo. But he gets tired really quick . Matteo is a lovely caring boy who loves music, everything related to water ( beach, pool) he enjoy swings and rollercoasters, he loves when the wind touches his faces and have the most beautiful smile and incredible laugh that is inevitable not start laughing with him. His parents wants him to live the life as most typical children lives. Thankful to God for his life, living one day at the time. With lot of Faith waiting on his miracle✨ 

BE A HERO!

Please join my team for the 4th Annual CACNA1A 5K! All funds will directly support their mission to raise global awareness and funds for much-needed research for CACNA1A-related disorders. Current treatment options are limited, and there is no cure.

Together we have the chance to accelerate life-changing research and improve the lives of those affected by CACNA1A!