A MUM was told her son had a rare progressive condition and could die before turning 35, but missed genetic results meant he only received the diagnosis five years after being tested.
Sarah Bingham, 39, is now worried that her other three children could have the same condition as she has begun to see some “very similar” signs.
Mum Sarah pictured with her son Caleb, who was diagnosed with a rare progessive condition Credit: PA Real Life
Caleb received the diagnosis five years after having initial testing done as his mum was not made aware of the report Credit: PA Real Life
Caleb, 14, nearly died at eight months old after having blood poisoning and bacterial and after waking up from a month-long coma, his mum said he had “completely regressed” and acted like a newborn.
He remained non-verbal until he was five and after years of “tests and delays” Caleb was diagnosed with at 10-years-old.
As part of the diagnostic process, he underwent genetic testing to identify any underlying conditions, chromosomal abnormalities or spontaneous mutations linked to autism.
Sarah never received the results and assumed “everything was fine” – five years later, however, she learnt he had Friedreich’s ataxia, a progressive condition which impacts coordination and speech.
Caleb was diagnosed with Friedreich’s ataxia, a progressive condition which impacts coordination and speech Credit: PA Real Life
Sarah, pictured with her partner Richard and their other kids Phoebe, Xavier, Felicity-Jayne, is worried that her other children may have the same condition as Caleb Credit: PA Real Life
Friedreich’s ataxia is a rare genetic disorder that affects how you move and speak.
It usually starts in childhood, gets worse over time and is thought to affect at least one in every 50,000 people, according to the .
Symptoms include problems with balance, difficulty swallowing, increasingly slurred or unclear speech and loss of hearing and .
Sarah, from Weston-super-Mare, said that Caleb “nearly died” after developing bacterial meningitis – a rare, life-threatening inflammation of the membranes surrounding the brain and spinal cord.
She said: “We were told to say our goodbyes, it was just so painful”.
Thankfully, Caleb awoke after a month but he could not recognise anyone and had to relearn how to .
It took around six months for him to begin making progress, but he remained non-verbal until the age of five and continued to be “below average” behaviourally, Sarah said.
Since then, Caleb has struggled with socialising and his mum says he has “never had any friends”.
Caleb began being tested in 2020 and was diagnosed with in 2022.
As part of the diagnostic process, which began in 2020, he underwent genetic testing, but Sarah never received results from this.
Over the years, Caleb struggled with balance and experienced pain in his legs, but this was often attributed to dyspraxia , which is common in those with autism.
He began to struggle more socially when he started secondary school and Sarah said he ” couldn’t mask and pretend everything was okay at school any more “.
The mum decided at the start of 2025 to gather evidence of Caleb’s autism to support her application for a specialist school and she requested his full medical from his .
While going through these files, she discovered a report showing that the genetic test carried out in 2020 had identified a chromosome seven deletion, which can lead to a range of developmental, cognitive and physical challenges.
Caleb nearly died at eight months old after having blood poisoning and bacterial meningitis and was in a coma for a month Credit: PA Real Life
Caleb is now 14 and is terrified about his diagnosis and “thinks he’s going to die” Credit: PA Real Life
This report, however, had never been shared with Sarah or followed up on.
The mum made a complaint to the NHS’ Patient Advice and Liaison Service and got Caleb an appointment with a geneticist in May 2025.
After further testing, Caleb was diagnosed with Friedreich’s ataxia in November 2025 – five years after a genetic test was first done.
Sarah was told that the condition could shorten , with Caleb potentially not living beyond the age of 35.
She said: “So many things clicked into place, because he’s had problems with his balance and walking since about nine years old – he walks as if he’s drunk.
“He can’t walk in a straight line, hop or jump, or fasten zips or buttons, and we were always told that was because of his autism.
“It’s frustrating because there’s a lot of guilt on my part now, I wish I had pushed to ask about the genetic testing earlier, but I just thought everything was okay.”
As Sarah and her partner Richard, 41, an engineer, are both carriers of the genetic condition, their other children, Phoebe, 12, Xavier, five, and Felicity-Jayne, three, are also being tested.
The mum, who was a social worker and is now Caleb’s full-time carer, 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.
“I feel like it’s all my fault, because it’s genetic, and there’s so much sadness – what if they all die before they’re 35?”
Sarah believes Phoebe and Xavier may also have the condition – both of them have a wide gait and struggle with balance while Phoebe has scoliosis, one of the symptoms of Friedreich’s ataxia.
All of Caleb’s siblings should receive their test results by September 2026.
Sarah said that so many things made sense when Caleb was diagnosed as he had always struggled with his balance Credit: PA Real Life What is Friedreich's ataxia?
Friedreich’s ataxia is a rare genetic disorder that affects how you move and keep your balance. It usually starts in childhood and gets worse over time.
Globally, itis thought to affect one in every 50,000 people.
Symptoms usually first develop before the age of 25, although it can develop in people much older than this.
They include:
- Problems with balance and co-ordination, often causing wobbliness, clumsiness and frequent falls
- Increasingly slurred, slow and unclear speech
- Increasing weakness in the legs – many people find walking difficult and need to use a wheelchair after around 10 to 20 years
- Difficulty swallowing (dysphagia)
- Abnormal curvature of the spine (scoliosis)
- Total or partial vision loss and hearing loss
- Diabetes
- Thickening of the heart muscles (hypertrophic cardiomyopathy), which can cause chest pain, breathlessness and an irregular heartbeat
- Loss of sensation in the hands and feet
The symptoms of Friedreich’s ataxia usually get gradually worse over many years. People with the condition tend to have a shorter life expectancy than normal.
Many people live until at least their 30s, and some can live into their 60s or beyond.
Source: NHS
The mum said: “I’m trying to prepare myself mentally, but I do doubt myself a lot, I’m already exhausted caring for Caleb.
“We would need carers, and we’d have to move to a bungalow.”
Sarah said that Caleb “completely shut down” when he first received his diagnosis.
She said: “He couldn’t accept it. He Googled the condition, saw that it’s life-limiting, and was crying his eyes out, he couldn’t even speak.
“He’s fixated on that now. All he can think about is that he’s going to die.”
Sarah has now set up a GoFundMe page to help pay for Caleb’s bucket list wishes – top of the list is a trip to Disneyland.
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.
“We’re all just trying to stay as positive as we can.”
A spokesperson from Sirona Care and , who now manage Children’s Services in the Weston-super-Mare area, said: “To protect patient confidentiality, Sirona never comments on individual cases.
“We strive to provide the best possible healthcare at all times, and to learn from all issues and concerns raised with us by patients.”
Eze Chidiebere Paul
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