Dad's devastating 'crumbling' diagnosis after doctor said 'let's rule it out'

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Paul Roberto, pictured with wife Jenni, was told he had an extremely rare condition after waking to find he couldn
Paul Roberto, pictured with wife Jenni, was told he had an extremely rare condition after waking to find he couldn't walk last year

A dad says he was relieved when doctors finally diagnosed the cause of his recurring balance loss and frequent falls – after medics told him his spinal cord was "crumbling".

Paul Roberto first noticed something was amiss in September last year when he woke up unable to walk. His mobility continued to deteriorate over the following months, leading to numerous falls, multiple head injuries, and hospitalisation.

Despite several MRI scans returning clear results, neurologists decided to conduct one more scan on his neck, stating "let's just rule it out". Shortly after this scan, Paul, an NHS worker from Tranmere, Merseyside, was urgently called to The Walton Centre due to swelling in his spinal cord, which had begun to "crumble", Liverpool Echo reports.

Dad's devastating 'crumbling' diagnosis after doctor said 'let's rule it out' dqxikeidqkikdinvPaul used to enjoy walking his dogs but now requires a wheelchair
Dad's devastating 'crumbling' diagnosis after doctor said 'let's rule it out'Paul used to compete in Tough Mudder competitions before his devastating diagnosis

Paul's wife, Jenni, 45, revealed: "In 2008, Paul was diagnosed with a rare genetic disorder called Hereditary Neuropathy with liability of Pressure Palsies (HNPP) which is where the PMP22 gene is missing and can cause muscle wastage along with many other symptoms. He endures daily symptoms of muscle spasms, numbness, neuropathic pain and constant fatigue."

She added, "Even though Paul endured these symptoms he was still able to enjoy a good quality of life. Paul enjoyed nothing more than exercising and competing in running and Tough Mudders where he was able to adapt to suit his disability."

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"Regrettably, this all altered in September 2022. After several months of uncertainty, they sent Paul for a last-minute MRI on his neck and said 'let's just rule it out'. The scan was scheduled for 9am and we received a call at 3pm instructing that Paul needed to be admitted to The Walton Centre immediately for emergency surgery."

Paul, 57, who previously worked as a paramedic, expressed: "I was aware there was damage, but I didn't comprehend the extent. Due to the urgency of the admission, I didn't have time to contemplate anything. I wasn't fully aware that I would end up with two titanium rods in my neck and if I had known the details of the procedure beforehand, I might have reconsidered. I felt relief that after months of uncertainty, we finally had a diagnosis and a plan of action."

Dad's devastating 'crumbling' diagnosis after doctor said 'let's rule it out'He now has two Titanium rods and 10 screws permanently supporting the vertebrae and spinal cord in his neck

Paul now has two Titanium rods and 10 screws permanently supporting the vertebrae and spinal cord in his neck. He is now in a wheelchair and using walking aids, with doctors estimating a 30% chance of him regaining some mobility following rehabilitation.

Jenni has now set up a GoFundMe with the aim of raising £10,000 to convert their bathroom into a wet room and purchase a motorised wheelchair for Paul, in an effort to regain some of his independence. Already nearly £7,000 has been donated within four days, with any additional funds raised to be directed towards further home modifications for Paul.

Jenni said: "Giving him access to the wet room and the freedom to be independent through the use of an electric wheelchair would significantly improve his mental health and wellness because his quality of life is currently dependent on me and carers. Paul used to love walking the dogs, he would put his podcast on and be gone for a good hour and a half. It probably doesn't mean a lot to others, but it means so much to him."

Paul is set to commence work with the Functional Rehabilitation Team at The Walton Centre, with the ultimate goal of regaining his ability to walk. To contribute to Paul's GoFundMe, click here.

* An AI tool was used to add an extra layer to the editing process for this story. You can report any errors to [email protected]

Susie Beever

Mental health, NHS

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