Families of babies born with a deadly spinal disorder are facing a “horrifying” wait to get a lifesaving drug on the NHS.
Five-month-old Arthur Morgan was the first in England to receive pioneering gene therapy drug Zolgensma last Tuesday which has a list price of 1.8 million.
Now around 50 other families face an agonising wait after being given the devastating news that their newborn has Type 1 spinal muscular atrophy (SMA).
They experience progressive muscle weakness, loss of movement, difficulty breathing and without Zolgensma have a life expectancy of just two years.
Nine-month old Edward Hall is one still waiting due to NHS red tape since it was announced Zolgensma was being approved.
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He was diagnosed at just eight weeks old after an incident when he started choking while they were out driving with mum Megan Willis and dad John Hall.
Megan explained: “John was driving on a busy road and had to manoeuvre it to pull over.
“By the time he had Edward was blue and just completely out of it and he had to resuscitate him. He was blue lighted to hospital and placed in a coma for a week.”
Edward was checked for bronchitis and various other conditions relating to his chest but all tests came back negative.
“When he came out of the coma I noticed how floppy he was and the nurses noticed as well,” Megan, 30, said.
“We had been supposed to leave hospital but then I realised there was something wrong with him because of everyone’s demeanour around him. Different medics came to see him.
“I Googled his symptoms while I was waiting there and that’s when I first read about SMA. Literally the first thing I read was ‘95% of babies don’t live passed the age of two’.
“I pretty much had a panic attack right there and I had to go out of the ward into the corridor.
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“I just rang my parents and they said ‘come on, your just feeling this way because he’s ill, that’s a rare condition and no-one has it in the family’.
“But I just knew. I said ‘it’s mother’s intuition, he’s got it’.”
At that point Zolgensma was not available on the NHS.
Megan and mortgage broker John, 37, went into fundraising overdrive and crowdfunded £170,000 towards the £1.8 million list price and a trip to America for the treatment, but were aware this was just “a drop in the ocean”.
Events manager Megan said: “Then when we found out it was being made available on the NHS we thought our prayers have been answered.
“But since then it’s been awful. It’s just horrifying that we’ve waited now three months since the first statements they are approving it.
“Children with SMA don’t have three months to wait. This is a race against time for us. The older he gets, the less effective it could be.
“This could be the difference between him being able to stand or not.”
Medics and families do not know how long Zolgensma works for but the oldest child to have been treated with it after birth is now aged five.
Experts believe it could help SMA babies live well in to adulthood.
When it was approved in March, draft guidelines set by the National Institute for Health and Care Excellence (NICE) said it should only be used for babies under six months old who were not already being treated, which would exclude Edward.
NICE said a decision on whether to give it to other babies would be dealt with on a case-by-case basis.
Around 40 SMA Type 1 children born every year are likely to be given the “miracle” drug.
Spinal Muscular Atrophy UK say the Zolgensma delay is down to the NHS referral process not being set up yet.
Liz Ryburn, support manager at SMA UK, said: “We think there are up to 50 children in the UK who are clinically suitable for this treatment.
“It’s a very difficult time for families to wait for news on when their child will be assessed. We’re urging NHS England to finalise what that referral process will be.”
She added: “Every day matters because for these babies the motor neurons die.”
Megan added: “Why has the NHS announced that this miracle drug is available and the first person has been treated but it’s only for newly diagnosed babies.
“Yet there are these children still waiting for whom the clock is ticking. The older they get the less eligible they are, and they are being put on hold.
“It’s these children’s lives that they have in their hands.”
NHS England said it has started running the Zolgensma treatment while only draft NICE guidance has been issued for the drug. Final NICE guidance is expected on Monday.
An NHS England spokeswoman said: “The landmark deal to provide Zolgensma to NHS patients goes further than NICE recommendations, meaning that children with type 1 SMA older than six months who may have previously received other treatments will be considered for treatment within the terms of the drug’s European licence.
“These decisions will be taken by local clinicians and specialist teams.
“While SMA is complex, this world leading service is now up and running and the NHS will be treating patients who need this care as quickly as possible.”