When Will was just three days, we knew something wasn’t right. The following day, he started to experience apnoeic seizures and was transferred to the neonatal ICU, where he spent the next few weeks. Eventually, he was discharged with the hope that the problem would resolve by itself at home.
Sadly, it didn’t. Three months later, Will experienced a different type of seizure and was rushed to the hospital for further evaluation. Once there, the seizures continued, and he was kept in, away from his twin and our family for months.
During that time, he received his first incorrect diagnosis of a neurodegenerative condition called Alpers syndrome. While we didn’t know it at the time, we were just happy to be bringing Will home for at-home palliative care. As excited as we were to have him back with us, we were also devasted but remained grateful for every day we had with him. Over time, we saw reasons to hope that his condition was not progressing as his seizures became more controlled, he started to stabilize, and our focus turned to further supporting his daily needs.
Years later, we decided to submit his DNA to a US epilepsy research project with the hope of receiving more answers. After 18 long, traumatic months, we finally received the results. Unbeknownst to us, Will didn’t have Alpers syndrome, and after all these years, we learned that he had SCN2A. At the age of 14, Will’s diagnostic odyssey came to an end, and suddenly, all his quirky symptoms made sense.