Carlota’s Story

Carlota is a ten-year-old girl from Spain. 

Variant: c.2129T>G; p.Leu710Trp

History 

We became aware that Carlota’s development was not typical when she was six months old. She is currently 10 years old and cannot walk, although she can crawl with difficulty. She is also nonverbal. However, she has learned two signs and is beginning to communicate through a computer with a system based on eye-tracking of the iris (IRISBOND).  Her cognitive profile is that of a 2-year-old. 

Carlota has experienced three episodes of coma lasting three days each, related to migraines with aura.

After the first episode of coma (when Carlota was five years old), we had genetic testing done by Parabase Genomics in Boston, MA, and discovered the CACNA1A variant. The connection was made through a Spanish friend who works at the company.  

Diagnoses

Epilepsy, cerebellar hypoplasia, hypotonia, global developmental delay (fine, gross motor, language and speech), intellectual disability, hip dysplasia, hyperopia (farsightedness), astigmatism

Education 

Carlota attends a special education school and has benefited from physiotherapy, therapeutic swimming, and hippotherapy.

For Those Newly Diagnosed 

We wish you strength and hope. You must never give up!