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Olivia was born with a spontaneous single gene mutation, meaning it was not inherited. This gene (EEF1A2) is especially critical to the way our bodies function. And Olivia’s variant happens to be the most severe of its kind. Had she lived longer, she was never expected to talk, walk, would develop epilepsy (seizure activity), would be visually impaired and might have lost her hearing.

As parents, we experienced the worst possible outcome in terms of our child’s life trajectory. But through this experience, we observed and learned that we were not alone. While Olivia’s specific condition is extremely rare and her variant is even more rare (1 of 9 known cases in the world), rare diseases, collectively, are not uncommon. In fact, over 300 million people in the world live with a rare disease. Many of which, go undiagnosed.

One of the most pivotal moments of Olivia’s journey was the day she was diagnosed. In her case, this condition (EEF1A2 related neurodevelopmental disorder) is incurable, but it allowed us to make confident, informed decisions about her treatment and care plan. It also opened the door to professional support such as palliative care and hospice. And it qualified her for long-term Medicaid, which prevented our family from financial devastation.

Olivia’s Light has lofty goals, and one of our top priorities is to help end the diagnostic odyssey for families. Furthermore, we support children and their families before and after the diagnosis, as there are many obstacles throughout the entire rare disease journey.

Help us spread the word about Olivia’s Light. Thank you for your support!