NHS Missed Genetic Test: Mom Fears 3 More Children Have Rare Condition

Sarah Bingham, a mother from Weston-super-Mare, faces immense worry after her 14-year-old son, Caleb, was diagnosed with Friedreich's ataxia. This rare progressive condition, identified in November 2025, could mean Caleb may not live beyond 35. The diagnosis followed a critical oversight where genetic test results from 2020, indicating a chromosome seven deletion, were reportedly missed by the NHS and never communicated to Sarah.

Caleb's health struggles began at eight months old when he nearly died from bacterial meningitis and blood poisoning, leading to a month-long coma and significant developmental regression. He was later diagnosed with autism in 2022. It wasn't until Sarah requested his full medical history at the start of 2025 that the crucial genetic findings came to light. Further testing confirmed Friedreich's ataxia.

Given that both Sarah and her partner Richard are carriers of the genetic condition, their other children—Phoebe (12), Xavier (5), and Felicity-Jayne (3)—are now undergoing genetic testing. Sarah expressed guilt over having more children after Caleb's initial health crisis, fearing they might also face the life-limiting disease. The family is preparing for the possibility of multiple diagnoses and the significant life changes required.

Caleb is grappling with his diagnosis, expressing fear of becoming wheelchair-bound and accepting his life-limiting condition. His mother is focused on creating positive memories, including a trip to Disneyland, and has launched a fundraiser. The family is also facing the prospect of needing significant home adaptations and potentially relocating. They await the test results for their other children, expected around September 2026.