The parents of a girl with a rare terminal illness have been left reeling after the NHS delayed a decision on whether to approve a wonder drug which could halt the condition.
Five-year-old Saffa Shehzan’s mother and father fear that even if the go ahead is given to prescribe the new treatment, it will be too late for their daughter who is now almost blind and cannot communicate.
Now her parents say their only option is to go to court in a bid to get Saffa on a clinical trial to secure treatment.
Saffa led a normal childhood until she was diagnosed with CLN2, a type of Batten disease, which affects just six people a year in the UK.
Less than a year on, she has already lost the ability to walk or eat – and is slowly going blind.
Her illness is incurable and will eventually kill her. The average life expectancy for Batten disease is just 10, with notable deterioration recorded between the ages of five and six.
A new drug – Brineura – has been put forward, which stopped the brain condition in its tracks for 20 of 23 children who completed a 48-week clinical trial.
It has been approved for use in America and across Europe, but the National Institute for Health and Care Excellence (NICE), which makes decisions on which drugs to fund through the NHS, has deemed it too costly.
A year’s treatment costs between £500,000 and £550,000. The yearly cost of treatment for the six patients diagnosed each year would be around £3 million and £3.3 million.
On Wednesday, the day after Saffa’s fifth birthday, NICE was due to make a decision, however, that has now been put off until September for further reports and Saffa’s father Majid, 35, believes it will come too late for his daughter.
Mr Shehzan, who lives on Clifton Drive North, St Annes, with wife Saima, 35, said: “It sounds bad, there are cases like Charlie Gard and Alfie Evans, they don’t know what’s wrong. They didn’t know if medical treatment would work.
“For Saffa, though, this drug is an amazing lifeline.
“This is a race against time. Saffa can’t wait until September and our only option is to go to court like Alfie Evans’ parents.
“We desperately hope to get her on a trial to slow it down while waiting for the NICE decision.
“Her speech is almost gone.
“We’re trying to get a kind of tablet device so she’ll be able to communicate with us.
“The last four or five days, they’ve increased her medication - melatonin to help her sleep, but she’s becoming immune to it. The rest of her medication is epilepsy medicine, helping to control the seizures.
“It’s one of those things, we’re dreading it now. Five to six is a critical age; 90 per cent of deaths, especially in girls with the condition, happens in that age.
“We’re shocked they’ve changed the goal posts, to not make a decision until September.
“If they do approve it in September, she could be too far gone and then we’d be told it’s not worth the NHS’s resources.
“Loss of sight is the next stage. She’s got focal seizures now, where her eyes are fixated. They’ve noticed in school that she’s struggling to see pictures now. It’s heartbreaking. Every now and then we see tears coming out of her eyes, she’s not crying but you know she’s upset - but you don’t know why or what she’s struggling with.
“She is depressed, no doubt.
“She’s not smiled for the last five or six days. You get good and bad days but hitting this age now, it’s all downhill.
“All this precious time we should be spending with her, we are spending fighting.
“We are going to have to do something legally. We are doing an appeal but the only chance we have is to any higher court and to keep fighting. We are thinking the only way to go forward now is to go to court.
“Don’t get me wrong - the school, the doctors, everyone is agreeing with us.
“They can’t understand why they’re not giving this drug to her.”
Fylde MP Mark Menzies has written to health secretary Jeremy Hunt urging him to step in and make interim funding available before it’s too late, and wants a debate held in Parliament.
He has also written to Biomarin to ask if it can help Saffa now – as well as NICE.
He said: “Batten disease is both cruel and incurable, robbing children of motor skills, sight, speech and more.
“Given the small number of children it affects each year, I see no reason why this treatment cannot be made available.”
Saffa would laugh, chatter, and dance – in her wellies – like any other tot until she suffered a sudden seizure in September 2016. Medics initially suspected epilepsy but, after more fits and several tests, Batten disease was diagnosed. Now wheelchair-bound and fed through a tube, Saffa suffers constant Parkinson’s-type jerking, which causes her severe pain.
The only word she can now say is Isa, the name of her seven-year-old brother, and requires almost constant care.
Matilda Moffatt from Leyland was the first child in the UK to start Biomarin’s trial – with mum Melanie saying her daughter wouldn’t be here without Brineura.
Siblings Ollie and Amelia Carroll, from Cheshire, also took part in the trial, and were headline news last year after meeting Prince Harry in hospital.
Their mum Lucy criticised NICE’s decision, saying the drug ‘showed positive signs of slowing the disease down’, and said: “Today we are angry, disappointed and completely heartbroken.
“Without this treatment Ollie will deteriorate extremely fast, the thought of how fast makes us feel physically sick.
“As parents we are struggling to comprehend how we face all this again with Amelia.
“We have watched Ollie lose his abilities how on earth do we watch this happen all over again to our beautiful little girl.”
The FDA in America described Brineura as ‘the first approved treatment to slow loss of walking ability’ in sufferers aged three or over’.
Director of the Office of Drug Evaluation, Julie Beitz, said: “Approving the first drug for the treatment of this form of Batten disease is an important advance for patients suffering with this condition.”
When Brineura was approved by the European Commission, principal investigator Angela Schulz, from the children’s hospital at University Medical Centre Hamburg-Eppendorf, said: “For the first time since entering this field nearly 15 years ago, I can now tell families affected by [Batten] disease there is a meaningful treatment that may help their child, and provide hope.”
A petition launched by the Batten Disease Family Association (BDFA), which calls on NHS England, NICE, Jeremy Hunt, and Theresa May to fund the drug has been signed by around 200,000 people.
A spokesman for NICE said: “The time allows the NICE project team to review the recommendations and ensure they have interpreted the reasons for the committee’s decisions correctly.
It also allows NICE to verify that the committee has appraised the technology in accordance with the terms laid down by the Secretary of State’s referral of the technology, the scope of the evaluation and the methods and processes used to evaluate it.
“The process does allow for a further period of consultation on draft recommendations if that is considered necessary (for example, if new evidence is presented during consultation on the initial draft guidance that is likely to make a material difference to the recommendations, or if the terms of any proposed managed access agreement for the technology require further development.”
How the devastating condition is affecting the whole family
Saffa’s condition is taking its toll on family life.
Their elder son seven-year-old Isa has recently been to a counselling session to help him cope with Saffa’s illness.
Mr Shehzan said: “It’s good he’s been able to speak to someone independently.
“They don’t tell us what he says, but they said he told them ‘I’m scared about Saffa’.
“That was a shock to us; he sees and is starting to understand it. He is only seven. He’s struggling.”
And he said not a day goes by when he or Saima don’t break down.
“She was having non-stop fits for hours last night, and I can’t even help her,” he said.
The family have tried to make the best of the worrying landmark birthday this week.
Saffa had a party at school - although the heavy medication made it hard to tell if she was enjoying it - with a family visit over the weekend.
“We were at a family wedding last week, it’s the first one she’s been to,” he said. “And family members were breaking down when they saw her and how much had changed since the last time they’d seen her. They were talking, behaving like it was the last time they might see her.”
Such has been the deterioration of her condition in recent days, Saffa can’t move her arms and has made no sounds at all for the last few days.
And she has been constantly grinding her teeth, a symptom of the seizures.
“The sound just goes through me,” Majid admits.