Isaac (2003)

CACNA1E c.1042 G>C , p.(G348R)

Isaac is a warrior! His first symptom was hypothermia (91'C) at 4 days old. He has a feeding tube as the sole source of nutrition. He has severe developmental delay, intractable seizures, and is non-verbal, non-ambulatory, has global hypotonia (no purposesful movements or head control), and is trach and ventilator dependent. Isaac has three older brothers who are healthy. Initially, it was suspected that Isaac had a possible mitochondrial/metabolic disease. A lot has been unknown in regards to his condition. In December 2024, Isaac was finally able to receive whole genome sequencing and CACNA-1E was found.

Isaac is deeply loved and a blessing to our lives!