History 

Oakley was born in 2020. By the time he turned one, his family began to notice that his development wasn’t following the typical path. At 18 months, he was referred to a neurologist because he wasn’t walking yet and had frequent staring spells, which were later confirmed to be seizures.

Oakley didn’t walk until he was 2, didn’t begin eating solid foods until age 3 (and still doesn’t), and didn’t start speaking until around the same time. Both his fine and gross motor skills remain delayed.

When he was two and a half, Oakley underwent genetic testing, and by age 3, he was diagnosed with a CACNA1A-related disorder. His episodic ataxia is one of his biggest challenges, especially after physical activity like long walks. He also has difficulty with changes in routine and experiences periods of regression, where he loses skills he had previously gained.

Diagnoses

• Epilepsy

• Global developmental delays

• Autism Spectrum Disorder

• Hypotonia

• Episodic ataxia

• ADHD

• Paroxysmal tonic upgaze

• Sensory processing disorder,

• G-tube due to severe oral aversions

Therapies 

Oakley has worked hard in therapy over the years. Physical therapy played a big role in helping him learn to walk, and occupational therapy helped him develop some essential daily living skills. He’s still in speech therapy and has made incredible progress. Today, Oakley is in special education and receives speech therapy through his school.

For Those Newly Diagnosed 

Take time for yourself—it’s a lot to take in. It’s completely normal to feel overwhelmed by all the “what is this?” and “what does it mean?” Try not to get too far ahead of yourself. Focus on the present, and know that there’s a whole community of CACNA1A families who get it and are here to support you.