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Parents fight for son's sight as rare disease progresses
1 Oct
Summary
- Sonny has ultra-rare Batten disease, a progressive neurodegenerative disorder.
- A drug can slow his deterioration but is not offered for eye treatment in Queensland.
- Parents are advocating for access to the sight-preserving treatment in their state.
A family in Queensland is desperately advocating for their three-year-old son, Sonny, who has been diagnosed with CLN2, a rare and aggressive form of Batten disease. This neurodegenerative disorder is progressively robbing Sonny of his speech, mobility, and eventually his vision and life. While a treatment called Brineura exists to slow the disease's progression by flushing waste from his brain, it cannot reach his eyes.
The only available option to preserve Sonny's vision is an off-label eye infusion of Brineura, a treatment not currently offered at Queensland Children's Hospital. This procedure is available for other children with Batten disease in Melbourne. Sonny's parents, Jason and Sarah, are frustrated by the lack of access in their home state, as time is critical for their son's sight.
Children's Health Queensland stated they are assessing the safety and efficacy of the intravitreal Brineura treatment and will explore options if clinically appropriate. However, this response offers little comfort to the family, who face the agonizing reality of their son's terminal diagnosis and the potential loss of his ability to see.
Neuroscientist Dr. Ineka Whiteman highlighted that the barrier to such treatments is often not about data or science, but about hospital resources, staffing, and funding. She questioned the equity of care when some children can access vital treatments in one state while others cannot. With four children diagnosed with Batten disease in Queensland, including Sonny, the urgency for equitable access to all available treatments remains paramount.
