Sarah Bingham, a 39-year-old mother from Weston-super-Mare, is grappling with the devastating news that her 14-year-old son Caleb has been diagnosed with Friedreich’s ataxia, a rare and progressive genetic condition that could significantly shorten his life expectancy, potentially to before the age of 35. The diagnosis came years after a critical genetic test result revealing a chromosome seven deletion was missed, leaving Sarah unaware of the risks for Caleb and her other children.
Caleb’s health struggles began in infancy when he nearly died at eight months old due to blood poisoning and bacterial meningitis. Following a month-long coma, he experienced severe developmental regression, remaining non-verbal until age five, struggling with mobility and social interaction. Diagnosed with autism at age 10, Caleb had undergone genetic testing as part of the diagnostic process in 2020, but Sarah never received the results and assumed all was well.
It was only in 2025, when Sarah requested Caleb’s full medical records, that she discovered the unreported genetic test results indicating a chromosome seven deletion. After raising her concerns with the NHS’ Patient Advice and Liaison Service, further testing confirmed Caleb’s diagnosis of Friedreich’s ataxia—a condition that affects coordination, speech, vision, and hearing, and can lead to severe physical disabilities and cardiac complications.
Both Sarah and her partner Richard, 41, are carriers of this genetic condition, meaning their other three children—Phoebe, 12, Xavier, 5, and Felicity-Jayne, 3—are now undergoing testing. Sarah, a former social worker who is now Caleb’s full-time carer, expressed profound guilt and exhaustion. “If we had these results before they were born, I probably wouldn’t have had any more children,” she said. “I carry so much sadness and worry about what the future holds.”
Caleb’s symptoms, such as poor balance and difficulty with motor skills, were initially attributed to his autism diagnosis, delaying appropriate treatment and understanding of his condition. The revelation of Friedreich’s ataxia has been a heavy emotional blow for Caleb and his family. Sarah described how Caleb “shut down” upon receiving the diagnosis, struggling with the fear of becoming disabled and shortening his life.
In response, Sarah has embraced a positive approach, creating a bucket list for Caleb with wishes like visiting Disneyland and organizing day trips to lift his spirits. She has also launched a GoFundMe campaign to support these experiences.
Sarah’s family now faces uncertainty as they await the outcomes of testing for her other children, all while managing the challenges of daily care, housing adaptations, and accessing therapy services through the NHS. Despite the hardship, Sarah remains determined to advocate for greater awareness and support for families affected by Friedreich’s ataxia.
A spokesperson for Sirona Care and Health, responsible for Children’s Services in the area, stated they cannot comment on individual cases but reaffirmed their commitment to providing quality healthcare and learning from patient concerns.