In 2015, the O’Neill family posed for a memorable photograph: Glenn, Beckham, Cara, and Eliza. This picture captured a moment in time as they navigated Eliza’s battle with Sanfilippo syndrome, a rare genetic disease. This illness severely impacts children, causing a progressive decline in various abilities.
Eliza O’Neill, once a lively child known for her love of hats, began displaying signs of developmental delays at age three. Despite knowing many words, she struggled to use them effectively in social interactions. Concerned, her mother Cara, a pediatrician, sought answers.
In 2013, a test for metabolic disorders led to an unexpected diagnosis. Eliza had Sanfilippo syndrome, a condition Cara vaguely recalled from medical school. This genetic disorder impedes the body’s ability to break down heparin sulfate, leading to severe symptoms. Children affected typically lose the ability to speak, walk, and often do not reach adulthood.
Seeking Treatment
After Eliza’s diagnosis, her father Glenn realized the urgency. An experimental gene therapy showed promise at Nationwide Children’s Hospital in Columbus, Ohio. Researcher Haiyan Fu had developed a therapy using a virus to correct the faulty gene in patients’ cells. Despite challenges, Fu’s dedication remained unwavering thanks to the support from families of affected children.
Funding was crucial. In 2014, Glenn reached out to the public through a viral video campaign, ‘Saving Eliza.’ It quickly raised over $2 million, fueling a clinical trial launched in May 2016. The trial caught the attention of the biotech industry, leading Ultragenyx to acquire the gene therapy rights in 2022.
FDA Approval and Beyond
Ultragenyx submitted data to the FDA, and in September, Fayuvi, the gene therapy, gained approval. CEO Emil Kakkis highlighted its effectiveness, especially in younger children diagnosed early.
Eliza was the first to receive this therapy. Though her ability to speak did not return, she communicates through picture cards and devices. Nearly 17 now, Eliza engages in activities like swimming and continues her education, showcasing resilience despite her challenges.
Reflecting on this journey, Glenn expresses pride in Eliza. Despite the rough road, he acknowledges how fortunate they are to have reached this point.
Leave a Reply