Family of brave four-year-old with incurable condition share journey since life-changing diagnosis

The family of a brave four-year-old who has an incurable genetic condition have shared the emotional story of their journey since receiving the diagnosis that changed their lives forever.

Now, thanks to pioneering new treatment, support from Bluebell Wood Children’s Hospice and lots of positivity, they are ready for whatever challenges may come their way.

Rudi Else was diagnosed with Spinal Muscular Atrophy (SMA) Type 1 – a genetic condition that weakens muscles and affects movement – when he was about seven-months-old.

His mum Daniella, thought all was well in the first few months of his life. But, after questioning the rate of his development, eventually received the life-changing diagnosis.

“It just felt like everything was pulled away from us,” said Daniella, 42, from Chesterfield.

“I cried all the way through the hospital, I think I broke down on one of the nurses in tears. It’s all a bit of a blur.

“I remember asking at the hospital what kind of treatments are available and they said there’s no treatment.

“It’s a case of waiting for the inevitable while keeping him comfortable and making sure he has what he needs.”

After being told that most children with the condition do not live past the age of two, Rudi’s suffered his first big health scare at 14 months when a cold developed into the more serious RSV virus.

“He couldn’t breathe for himself, said Daniella.

“He nearly died two or three times. I stayed there every night and I barely ate throughout.”

The family had many difficult conversations in Sheffield Children’s Hospital, with doctors telling them Rudi may never return home. But courageous Rudi battled on and was able to return home after a three-week stay.

“Some people would say you’re burying your head in the sand. But what choice do I have, I can’t just sit here and cry all the time,” said Daniella.

Rudi Daniella

“Whether he has six months, a year, five or ten, if the inevitable does happen, I’ll do my crying then.

“Why not stay positive? I want to enjoy the time we have together.”

The family was introduced to Bluebell Wood after Rudi’s diagnosis, but didn’t become regular visitors until he was almost two-years-old.

The relationship began with home visits from community nurses, giving Daniella the opportunity to take time for herself – having never left his side previously.

The family went on to find support, friendship and understanding at Bluebell Wood Children’s Hospice where Rudi’s charmed staff and volunteers alike with his infectious smile and bubbly personality.

“Everyone’s welcoming, understanding and has empathy for our situation,” she said.

“Nothing’s ever too much trouble. It also gives Rudi the chance to interact with other children in a safe environment, which is something I feel he now needs.

“It’s a safe and comfortable place for us to go – that’s what Bluebell Wood feels like to me.”

With Rudi now on a first-of-its-kind NHS-funded treatment for his condition and due to start school this year, the family are looking forward.

The treatment, a pioneering new drug called Sprinraza, was recently formally approved by the NHS. Before this the family had to travel all the way to Paris to take part in a clinical trial, doing various fundraisers to pay for the trip.

“We bought a van, drove to Paris and for a consultation and he was accepted onto the trial a month later,” said Daniella.

“It’s the first ever treatment for SMA, which he undergoes every four months. As part of the trial, he had five injections in Paris overall but once the trial has finished we thought he wouldn’t be able to get the drug.”

Daniella and husband John joined other parents and their local MP Toby Perkins in a national campaign to get the treatment on the NHS.

The family breathed a huge sigh of relief when NHS England came to an agreement with the treatment’s manufacturer earlier this year.

And now the drug is now being rolled out across the country for a time-limited period to eligible parents while more data is collected on its effectiveness.

“It’s a really good treatment as far as we’re concerned – it’s worked wonders,” said Daniella.

“He has more energy, more movement, his breathing’s better and he’s had fewer hospital admissions.”

Catherine Holland, Activity Coordinator at Bluebell Wood, said: “Rudi really enjoys all the activities we do here and is so full of mischief.

“He’s a fabulous little boy and is always such a pleasure to be around.”

It costs more than £4m to keep Bluebell Wood’s doors open for families across South Yorkshire, North Derbyshire, North Nottinghamshire and parts of North Lincolnshire, with only around 10% of funding coming from government sources.

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