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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, but our first priority is to support the mission of eradicating the diagnostic odyssey with rapid broad genetic testing. We want to make broad genetic testing accessible and free to every pediatric patient, and we are starting with those in Virginia. We are working hard to make this happen and hope to have an official update very soon.

So what does this look like? Providing financial support for patients’ testing, while advocating for change at the legislative level. Our goal is to see that rapid broad genetic testing becomes a first-tier diagnostic tool and part of the standard of care for patients with qualifying symptoms.

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