A teenager battling motor neurone disease has been denied access to a groundbreaking drug known to slow the progression of the illness.

Lillia Jakeman, diagnosed with motor neurone disease (MND) this past August, has reportedly been experiencing symptoms for nearly four years, according to her family.

MND is a rare and devastating condition that gradually destroys nerve cells. This leads to muscle weakness and, over time, can confine individuals to a wheelchair. It also causes challenges with speaking, breathing, and swallowing.

Though the disease is ultimately fatal, its progression can vary significantly from one patient to another.

A new drug, Tofersen, has shown high effectiveness in slowing down the disease’s progression, offering a glimmer of hope to those affected.

The drug only works for patients who suffer a specific gene mutation of the condition, called SOD1, which affects around 100 people in the UK.

Lillia suffers from SOD1 MND and was told about the miracle drug shortly after her diagnosis, giving some hope to her family.

However the 19-year-old has now become the victim of a postcode lottery, as the drug is available for free in some parts of the country but not others.

Lillia Jakeman pictured as a child alongside her mother Faye

The now-19-year-old, pictured, suffers from a rare form of motor neurone disease which affects only around 60 people across the UK

The 19-year-old suffers from a rare form of MND. It affects around 60 people across the UK

In Romsey, where Lillia lives, the cost of the drug and staffing have meant she has been denied access to the life-changing medication.

The pharmaceutical company Biogen is providing the drug for free to the NHS, but it involves monthly injections into the patient’s spine.

Her stepmother Dr Rachel Jakeman, who lives with Lillia’s father and her husband Kevin in Gloucestershire, said doctors are ‘missing opportunities every single day’ by denying her the drug.

They have now set up a JustGiving page, hoping to fund private treatment for the teen’s condition. 

Dr Rachel said: ‘She was diagnosed in August this year but she has probably been displaying symptoms for the past four years.

‘She was out of school since she was 12 because of problems with her anxiety. The whole Covid situation did not help.

‘She had a lot of difficulties, she had undiagnosed autism and the pandemic made it difficult to access services.

‘We want to try and sort treatment.

‘It seems ridiculous that it is available for 42 people in the country but unavailable for 20.

Lillia was diagnosed with MND in August, but her family said she has displayed symptoms for around four years

‘They are missing opportunities every single day.

Experts have predicted that Tofersen could stall the progression of the disease for several years – possibly even decades.

Researchers found that the monthly spinal injections led to patients reporting significantly better mobility and lung function after 12 months.

Tim Wake, 45, from Surrey, was given the drug shortly after being diagnosed in 2020. His mother, grandmother and uncle all died from the condition.

He said the drug had an immediate impact on him.

Speaking last year, he said: ‘I have not progressed in four years, which is staggering.

‘Without it I would almost certainly have passed away, judging from what happened with my mother. I am getting to see the kids grow up, I have sustained my career and lived a fairly normal life.’

Dr Jakeman said that Tofersen is currently available for around 42 people across the country, but remains unavailable to another 20 SOD1-MND patients due to regional management of NHS services.

Lillia has become the victim of a ‘postcode lottery’, as the drug is available for free in some parts of the country but not others

She added: ‘The drug is free at the moment so we cannot understand how it is not available for everyone.

‘How can it be that this drug is working and people still cannot get it.

‘The disease is so rare, why can’t the drug be given to an extra 20 people. It is tiny numbers – these people would be prepared to travel.

‘The problem is that everyone is in their silos, all local NHS organisations working individually.

‘We even tried to get Lillia referred to another clinic in another part of the country and it was declined.’

Lillia and her mother Faye are now considering relocating from their home in Romsey in search of somewhere where she would be able to receive the drug.

However with Lillia having lost function in her arms and legs she is now in a wheelchair and requires a specially adapted home like the one they currently live in.

‘It is not easy to just up sticks,’ Dr Jakeman said, ‘they have a home there which is adapted, they have carers, friends, Faye has a job there.

Lillia and her mother Faye are now considering relocating from their home in Romsey in order to try and get access to the drug

‘Why should they have to move as well. If a child has an illness they are referred to Great Ormond Street and move there.

‘It is a rare condition, the families know that and they expect they would have to travel – no one is being unreasonable.’

‘Every day the clock is ticking,’ Dr Jakeman added.

‘She is 19 years old, she has already lost function in her hand but she is still very good at breathing, speech and she can still swallow.

‘She is already in a wheelchair. There is quality of life left if we get help to her now.

‘If we keep waiting her quality of life will not be there.

‘She said the ‘NHS won’t let you live but they also won’t let you die’.

The family initially launched the fundraising page to raise money for bucket list activities for Lillia, but this has now been changed to try and pay for private treatment.

Lillia’s family are now fundraising to try and pay for private treatment for her

They are trying to raise £50,000 to try and find a ‘friendly neurologist’ to help treat the 20 people who are not able to receive the drug for free.

Dr Jakeman added: ‘It is worse to be told that there is a drug that can help you and then to be told that you can’t have it.

‘She was told about the drug in her initial appointment, which got everyone’s hopes up.’

Dr Jakeman said doctors in Southampton tried to get access to Tofersen but were rejected.

The family complained to Universities Hospitals Southampton but were told by the chief executive that the decision would stand.

She added: ‘I refused their explanation and I wrote a comment to them. They said that was their decision.

‘There is no humanity anymore in the NHS.

‘The other day I was so frustrated, I ripped off my NHS lanyard.

‘Jim Bowen on Bullseye used to say “here’s what you could have had” – It is like that.

‘It is ten times worse, it is daily mental torture.

‘She wakes up wondering what is going to go wrong next.

‘She was almost housebound for seven years with anxiety and was just starting to get better.

‘She is such a lovely young woman who was ready to live her life.’

A spokesman for University Hospital Southampton said: ‘Like all NHS Trusts, we are facing challenging times and are required to live within our financial means.

‘While this drug is currently being offered for free by a manufacturer through an early access programme, unfortunately we have not received any funding to pay for the increased service capacity we need to safely deliver this treatment and closely monitor a patient’s ongoing progress.

‘We have therefore made the difficult decision that we are unable to provide Tofersen at this time, because doing so would mean taking resources away from other patients.

‘We understand this will be deeply disappointing to families affected. The Trust will work towards being able to offer this treatment as soon as possible, if and when it is approved by NICE and funding is made available from NHS England.’