Family say this pioneering new drug has 'worked wonders' for their four-year-old son with an incurable muscle-weakening condition
A mum from Sheffield has told how a pioneering new drug has ‘worked wonders’ for her son, who has an incurable condition that weakens his muscles.
Daniella Else first noticed her son Rudi, now four, was not developing at the rate was expected when he was seven-months-old.
Shortly afterwards, he was diagnosed with Spinal Muscular Atrophy (SMA) Type 1 - a genetic condition that weakens muscles and affects movement.
After being told that most children with the condition do not live past the age of two, Daniella was in tears.
She said: “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.”
Rudi has a big health scare when he was 14-months-old when a cold developed into the more serious RSV virus.
Daniella said: “He couldn’t breathe for himself. He nearly died two or three times.”
The family had difficult conversations in Sheffield Children’s Hospital, with doctors telling them Rudi may never return home.
Courageous Rudi battled on, however, and was able to return home after a three-week stay.
Daniella said: “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.
“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 Children’s Hospice after Rudi’s diagnosis, but did not become regular visitors until he was almost two-years-old.
The family went on to find support, friendship and understanding at the North Anston-based hospice, where Rudi charmed staff and volunteers alike with his infectious smile and bubbly personality.
Daniella said: “Everyone’s welcoming, understanding and has empathy for our situation. 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.”
Rudi is now also on a first-of-its-kind NHS-funded treatment for his condition, and due to start school soon, so 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 to Paris to take part in a clinical trial, doing various fundraisers to pay for the trip.
Daniella said: “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.”
Daniella and husband John joined other parents in a national campaign to get the treatment on the NHS.
The family were delighted when NHS England came to an agreement with the treatment’s manufacturer earlier this year. 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.
Daniella said: “It’s a really good treatment – it’s worked wonders. He has more energy, more movement, his breathing’s better and he’s had fewer hospital admissions.”