AN MP has pledged to help the family of a girl with a rare terminal disease as they urge the NHS not to cut funding for potentially life-saving research.
Nine-year-old Maddison Crockford-Reid has such a rare condition – Sanfilippo syndrome – that there is no cure.
Her devastated family have been struggling to come to terms with the fact that the Portsmouth girl is unlikely to make it past her late teens since her shock diagnosis in August 2015.
But for the past two years, Maddi has been involved in a clinical trials in Manchester – at a specialist hospital for Sanfillipo syndrome – for a potential treatment. This had given the family a much-needed glimmer of hope.
But the NHS and the National Institute for Health and Care Excellence (Nice) has revealed from Saturday, it will no longer pay for the most costly treatments for people with rare conditions.
The family have written to Portsmouth North MP Penny Mordaunt who told The News she will help the family and see what can be done.
‘Whether a treatment is Nice approved or not, does not itself determine who should have it on the NHS,’ Ms Mordaunt said.
‘If a treatment would help a person they should clearly receive it and it is highly unethical to withdraw a treatment someone has been receiving.
‘I have secured non-Nice approved drugs for other constituents and have also got Nice guidelines changed.
‘An issue for rare conditions is that sometimes the specialist healthcare professionals have not been able to give evidence to Nice because there are so few of them. This means all the arguments for a drug being Nice approved are not taken into account. I will see what can be done to help.’
Maddi’s older sister, Jorden Evans, 21, said she and her loved ones had been left reeling by the news, saying it was a death sentence for Maddi.
She believes it means that while the existing trial will continue until July, the drug has no chance of being licensed and future trials will never happen.
Jorden, of Cheltenham Road, Paulsgrove, said: ‘We’re just shell-shocked. My mum is absolutely devastated and hasn’t stopped crying.
‘Having this funding is a massive glimmer of hope for both our family and families affected by rare diseases.
‘It feels as though this tiny glimmer of hope has been snatched away from us
‘There’s not a lot for the family of people with rare diseases to hang on to.’
In the UK there are only 24 people affected by Sanfilippo syndrome, with only a handful having the same ultra-rare version that Maddi has.
The illness means she will eventually lose the ability to walk, talk, see and hear.
Jorden added: ‘This act by NHS England and Nice is traumatising to say the least.
‘It would leave families with absolutely no hope for their children.
‘In our circumstances, it would halt Maddison’s current clinical trial and would stop all future ‘cure’ trials from taking place.
‘This would effectively be leaving the disease to simply “take its course” and thus leaving her no hope or chance of survival.’
The move will see the introduction of a £100,000 ‘quality-adjusted life year’ threshold for medicines evaluated as part of Nice’s technologies programme, which assesses treatments for ultra-rare diseases.
Campaigners say this threshold would stop the flow of expensive new medicines reaching patients most desperately in need, with most treatments costing upwards of £500,000.
Charity leaders claim this is a small price to pay to give the few families in Britain, coping with ultra-rare illnesses, extra time with their loved ones.
Christine Lavery is the group chief executive of The Society for Mucopolysaccharide (MPS) Diseases, which supports Maddi’s family.
The group is calling for a ‘pause’ before any decision is taken.
Speaking to The News, Mrs Lavery said: ‘To penalise these families and children for the misfortune to have these rare diseases is incomprehensible.
‘Being born with an ultra-rare disease, a disease affecting less than 110 people in England, is not a lifestyle choice.
‘It’s no-one’s fault.
‘It happens very rarely but it happened to my son. At that time, there was no treatment and Simon died aged seven years.
‘I can only imagine now how it might be to be faced with a child with an ultra-rare disease who could be treated with a highly-specialised medicine but is denied treatment on cost grounds.
‘The pain for the family of seeing their child condemned to death is unimaginable. This is an abuse of people’s human rights.’
Jorden added she also wants there to be a ‘pause’ to the funding proposals to allow the government to reconsider them.
The MPS Society has launched a petition against the move, which is at https://tinyurl.com/lswu6dd
A spokeswoman for Nice said it issued guidelines and local trusts made the final decision on funding trial.