Health: Mum diagnosed her son with rare genetic condition after seeing family photograph

Dani and son Rudi
Dani and son Rudi

Six months after 19-month-old Rudi Else almost died at Sheffield Children’s Hospital, a new treatment is giving the toddler’s family optimism

Dani Ingrosso cuddles her little boy to her and is rewarded with a sweet smile.

Rudi Else

Rudi Else

As the mum plants a kiss on son Rudi’s golden mop of hair, she reveals that she feels hopeful for the future.

It’s a long way from how she felt six months ago as she sat beside Rudi’s bed in Sheffield Children’s Hospital’s ICU, watching the toddler hooked up to machines that were keeping him alive.

“There were a few nights, the doctors warned us he might not make it to morning,” she recalls.

“Those were horrible times. His lungs were flooded with secretions and he was struggling to breathe.

It turns out John and I are both carriers, giving us a one in four chance of passing the condition on to Rudi.

“He had to be intubated, as doctors worried his weak lungs would collapse.”

Today, nineteen-month-old Rudi Else is home with his delighted parents after making a full recovery – but he’s far from out of the woods.

The cause of Rudi’s illness, a rare condition called SMA, means that contracting so much as a cold can be life-threatening for the young boy, as it risks turning into a chest infection or pneumonia and landing him back in the hospital.

“Rudi was diagnosed with SMA – spinal muscular atrophy – when he was six months old,” says Dani, originally from Sheffield, and who works in the city.

Dani and John with their son Rudi

Dani and John with their son Rudi

“We’d taken him to the GP a handful of times as we were concerned that, at five months, he still couldn’t sit up, or hold his head up for very long, and was generally quite floppy.

“We were told time and again that children develop in their own time. Finally, we were referred to the hospital for tests, but they turned up nothing.”

In the end, it was Dani’s own detective work that helped unravel the mystery.

“My partner had a cousin who died decades ago. I saw pictures of her in a wheelchair and started asking questions. It turned out she had SMA and I did some research. I found out that SMA is a genetic condition and some of the symptoms sounded like Rudi. I told the doctors immediately; they tested for SMA and it came back positive.

Rudi Else

Rudi Else

“It turns out that my partner John and I are both carriers, meaning we had a one in four chance of passing the condition on to our child.”

When doctors confirmed Rudi’s diagnosis, they also delivered a real blow, telling Dani and John that children with SMA Type I have a life expectancy of around 18 months, with 95 per cent never making it past their second birthday.

“We were utterly devastated,” says Dani, aged 39.

“Apart from being floppy, Rudi seemed perfectly healthy. We couldn’t understand how he could go from this, to dying.

“Though Rudi’s case is categorised as ‘severe,’ his is better than that of many children with SMA, in that he can eat orally and breathe quite well. That’s why we hadn’t identified that there was something wrong earlier, as he had no problems breathing as a baby and was able to take my milk.”

Spinal muscular atrophy causes muscle weakness and progressive loss of movement, as a result of deterioration in the nerve cells connecting the brain and spinal cord to the body’s muscles. As the link between the nerves and muscles breaks down, the muscles used for crawling, sitting up and moving the head become weaker and shrink.

Rudi Else

Rudi Else

“It also affects the muscles used for swallowing and coughing,” says Dani.

“If you can’t cough up mucus when you contract a cold or get a chest infection, you can’t clear your lungs. That’s what happened to Rudi at Christmas.

“After his diagnosis we had a really good year with him. He couldn’t sit or stand, but he could eat and breathe and was doing well day to day. When he got a chest infection last winter, and ended up in hospital, it was a real eye-opener for us.

“For the rest of the winter, we didn’t really see anyone as we couldn’t risk exposing him to germs, knowing that another cold or chest infection could kill him. He didn’t go to nursery, or play groups, we did everything we could for him at home instead.

“The worst part for us was always that there is no treatment for SMA. It all boiled down to keeping the child comfortable and supporting the parents. We were put in touch with community nurses, support groups, and counsellors at Bluebell Wood.”

A ray of hope came last December when the Chesterfield couple, who are getting married this September, learned of a new treatment being tested in America and Europe; a series of injections it was hoped would recreate the missing proteins in the bodies of people with SMA.

“It was the first treatment of any sort for SMA and the results were really promising,” Dani says.

“We applied to Newcastle and Great Ormond Street but they could only put Rudi on a waiting list, which we were told could take up to a year. But we knew Rudi might not have a year, none of these children really have that kind of time to wait.”

Dani and John applied to the programme in Paris and were accepted. They have already travelled to France four times this year – on the EuroTunnel, to minimise Rudi’s contact with other people – and have spent almost £10,000 for four injections.

“We’re lucky that, as the drug is still technically in the testing phase, it’s free,” explains Dani.

“The money we’ve had to find, about £2,000 per trip, was for travel, insurance, and the actual hospital care. But once that testing phase is over, the price of the injections will rocket.”

The family launched a JustGiving page for Rudi that has already raised well over £8,000, and Dani says she and John have been blown away by people’s support.

“I’ve sat and read through all the comments, and we’ve received donations and messages from people I don’t even know. I can’t thank those kind strangers enough for what they’re helping us to do.”

And the treatment is already starting to work.

“It is a treatment, and not a cure,” Dani clarifies.

“And we’ve been told it’s a gradual process, but we’re already seeing its effects. Rudi can now hold his head up straight, meaning he can sit up in his highchair, rather than having to be leaned back. His grip has also improved and he has a better grasp on his toys. His condition is degenerative, so there was never any hope of him improving, only of his muscles fading away, but now we’re seeing him grow stronger and it gives us real hope for his future.

“This is the first treatment there has ever been for people with SMA. Who knows what they might find in another year, or five years, or 10! As parents, myself and the wonderful people I’ve met in SMA support groups all over the world, are committed now to campaigning to ensure that as many children as possible have access to this treatment to give them hope for longer.

“We shouldn’t have to be travelling to Paris with our son for treatment, and there are so many more children too ill to travel. There is no time to wait, as these babies and toddlers grow weaker. This is something that needs to be available here, and it needs to be available now.”

But despite an uncertain future, Dani insists she and John are looking forward with hope.

“You have all kinds of wishes for your child before they’re born. I now know my son will never run a marathon, but today I’m grateful for different kinds of milestones. I’m looking to a future where my child may be able to sit up on his own, can grip his toys better to play with them, and lift a spoon to his mouth to feed himself. Those are the life-changing moments now.”

* Visit Daniella Ingrosso Just giving Page to donate.