A mother from Weston-super-Mare has spoken of her anguish after discovering that genetic test results for her son were missed by the NHS, leading to a delayed diagnosis of a rare and life-limiting condition. Sarah Bingham, 39, now fears that her three other children may also have inherited the same disorder, which could shorten their lives.
A Missed Diagnosis
Sarah's son Caleb, now 14, was diagnosed with Friedreich's ataxia in November 2025, after a genetic test performed in 2020 revealed a chromosome seven deletion. The results were never communicated to Sarah, who assumed everything was fine. It was only in 2025, when she requested Caleb's full medical records, that she discovered the oversight.
Caleb had nearly died at eight months old from bacterial meningitis and blood poisoning, which left him in a coma for a month. After waking, he regressed and was later diagnosed with autism. His balance and coordination issues were attributed to dyspraxia, but the genetic test would have identified the underlying cause years earlier.
The Genetic Condition
Friedreich's ataxia is a progressive condition that affects coordination, speech, and can lead to vision and hearing loss. It also weakens the legs and can cause heart problems. Life expectancy is often reduced, with many patients not living beyond 35.
Sarah and her partner Richard, 41, are both carriers of the genetic mutation. Their other children—Phoebe, 12, Xavier, 5, and Felicity-Jayne, 3—are now being tested. Sarah believes Phoebe and Xavier may have the condition, as they show symptoms similar to Caleb's, such as balance difficulties and scoliosis.
Emotional Toll
Sarah expressed guilt over having more children after the missed results. She said, 'All I ever wanted to be was a mum, but I feel guilty for having my youngest two because if we had these results before they were born, I probably wouldn't have had any more.' She added, 'What if they all die before they're 35?'
Caleb has struggled with the diagnosis, fearing he will end up in a wheelchair. Sarah has encouraged him to create a bucket list, with a trip to Disneyland at the top. She has set up a GoFundMe to help fund these experiences.
NHS Response
A spokesperson for Sirona Care and Health, which manages Children's Services in the area, said they cannot comment on individual cases but strive to learn from concerns raised by patients.
Sarah is awaiting therapy through the NHS and hopes for more awareness of Friedreich's ataxia. She said, 'I just wish there was more awareness about the condition, I haven't met anyone else with it, and it's just so scary.'
