Victory after two-year Daily Express campaign to get PKU life-changing drug for all

For 13 years across Europe, sapropterin has eased brain damage fears of sufferers for whom natural protein is a danger to be avoided at all costs.

But despite having just 2,300 PKU patients, England health chiefs repeatedly refused them sapropterin – while 26 countries like Latvia and Estonia enjoyed it.

Instead, Britain’s sufferers survived on a hellish regime of prescription synthetic food avoiding meat, fish, eggs, dairy, many vegetables and fruit.

Now after our relentless 20-month crusade, NHS England have finally struck a deal with pharmaceutical Teva UK to offer sufferers of all ages the treatment.

Delighted campaigner Kate Learoyd, 47, mum to PKU son Alex, said: “This news is the best Christmas present I could have ever wished for.  

“We have fought for years for sapropterin, with many sleepless nights and disappointments along the way.

“I think many people will be crying with joy at this news and it has been amazing to have the Daily Express fighting with us in our battle.  

“As families with a rare disease we were so easy to ignore until we had the support of the Daily Express.  

“It has meant the world to have their support – finally it was like our voice was heard.”

Another lead campaigner Caroline Graham, 56, wept knowing her two children with PKU – Callum, 27, and Holly, 25 – will soon finally get the wonder pill.

She told us: “I promised my kids I would never give up without realising how hard it would be!

“The Daily Express has done an incredible job sticking by the PKU community.

“They believed in us and delivered a game changer. We have so much to thank them for.

“This brings unimaginable joy and freedom towards a brighter future.”

People with PKU, the abbreviation for phenylketonuria, cannot properly digest the amino acid phenylalanine.

Phenylalanine is found in most protein-containing foods such as milk, eggs, cheese, nuts, soybeans, chicken, beef, pork, beans and fish.

Amino acids, the building blocks of protein, are broken down by our body to make vital proteins but in PKU sufferers the levels build up to cause brain damage.

However in the early 2000s clinical trials proved sapropterin reduces phenylalanine levels for around 40 percent of PKU sufferers.

In fact, it reduces the need for low-protein foods and supplements by a staggering 71.2 percent.

It means sufferers can soon finally visit restaurants or cook using a wider range of natural ingredients – as well as some tasting fish, meat and dairy for the first time.

Over 20 months we urged the NHS and drugs appraiser NICE (National Institute for Health and Care Excellence) to ease sufferers’ pain.

Until last year only US firm BioMarin had the licence to sell sapropterin in Europe, under their exclusive brand name ‘Kuvan’.

But in January 2021 many of BioMarin’s monopoly of patents expired, allowing rival firms like Teva UK to make a cheaper generic sapropterin version.

In June this year NICE finally green-lit BioMarin’s expensive Kuvan in England and Wales – although in a bittersweet decision, only for those aged under 18.

That initially meant on a sufferer’s 18th birthday they would find the vital drug withdrawn from them.

After we launched a withering attack on that half measure decision NICE widened their ruling in August, for those aged under 22 and pregnant mums.

Now NHSE have revealed exclusively in our paper they have signed a deal to offer Teva UK’s more affordable generic sapropterin to sufferers of all ages.

Hailing their “cost-effective” deal they said: “The NHS is set to make a drug for PKU available to patients of all ages for the first time.

“The health service will roll-out a national genetic testing and responsiveness programme for around 2,300 people with PKU across England in order to identify those patients who stand to benefit from the treatment.

“Around 50 people have already shown a positive response to the drug through testing and will be eligible to receive it on the NHS from next week.

“Pregnant women who have PKU will also be offered the drug immediately.

“The testing process can take between eight to ten weeks and the drug will be offered to every individual where a clinical benefit is observed.”

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Siblings Holly and Callum Graham had almost given up hope of sapropterin – after pleading for over a decade for the wonder drug.

Their mother Caroline Graham, 56, of Godalming, Surrey, was one of the PKU campaigners who urged the Daily Express to join their fight.

Ever since she discovered her children had the rare genetic condition she has researched and demanded treatments on the NHS.

And when we told the family this week of the landmark news of NHSE’s sapropterin deal with Teva UK, they all wept tears of relief and joy.

Stunned musician Holly, 25, told us: “I’m trying to get my head around the fact that something I have been waiting for my whole life has finally become a reality.

“It is the best Christmas present I could have ever hoped for.

“We have waited so long I didn’t think this day would ever come, I have to keep pinching myself to make sure it is not just a dream.”

I could not imagine a better Christmas present.”In 2003 mother-of-three Caroline wept tears of joy when told a gene mutation test proved Kuvan would massively help her Holly and Callum.

Since then she, Callum and Holly have campaigned for Kuvan, met then Health Secretary Matt Hancock and fought for health justice.In August this year they were devastated when NHS drugs approver NICE – The National Institute for Health and Care Excellence – agreed to supply the drug from US maker BioMarin but only for those aged 21 and under.

They have vowed to keep fighting for all those with PKU aged 22 and above who desperately still want a chance at taking the drug.

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Mother-of-two Sam Parker was dreading another Christmas dinner this year without the trimmings – but now she has a hopeful future too.The PKU sufferer, 41, once had Boris Johnson round for tea on the 2019 election trail to plead for sapropterin on the NHS.

Sam, of Darlington, County Durham, told him how every day she lives only on fake prescription meals and foul-tasting synthetic protein.

Now Sam – who has fought for health justice with the Daily Express – has told us of her pure joy at news of this week’s drug deal.

She gushed: “When I was a child I would always ask why I had to be different to my siblings and could not eat what they did.

“Even now I have to take huge handfuls of tablets everyday, my synthetic protein as I cannot have things with real protein in them.

“Having PKU in the pandemic has been even worse and arduous. I have been especially low. It’s been so tough.

“Now I finally have something to dream about for a hopeful future. I can see a way ahead. It’s the most magical news ever.”

Sam revealed her lifelong suffering to Boris when she and plumber husband Ash, 39, gave him an election grilling in their home.

She bemoaned NHSE’s lack of wonder drug sapropterin to fight her genetic condition, as without it she suffers a severe diet regime.

When aged just three Sam led her mum to weep after she hungrily ate crusts thrown out for the birds – as PKU children cannot eat normal bread.

Sam’s a stay at home mum to six year-old Grace and five year-old Harry and their spaniel dogs. Only Sam has PKU.

Until medics can check her suitability for sapropterin, this Christmas Day dinner will see her eat just a few vegetables, a bit of mash and maybe apple or mint sauce.

Sam can hardly eat any protein, and describes most of the food as like “eating fresh air”, as “it doesn’t make you feel full or give you energy.”

Last night she told us: “Now with sapropterin available I can hopefully eat what my family eat next Christmas! That would be incredible!”

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NHS Medical Director, Professor Stephen Powis told the Daily Express of his joy that after so many years, PKU sufferers now have a cost-effective treatment.

Professor Stephen Powis said: “This life-changing drug will make a huge difference to hundreds of people with PKU.

“It will allow them to enjoy foods that were previously off limits and significantly improve their quality of life.

“It is fantastic the NHS has been able to use its commercial abilities to reach a cost-effective deal to supply a non-branded version of sapropterin, to offer it all to all patients who are shown to gain a clinical benefit from the treatment.

“In the run-up to Christmas, after what I know has been a long and frustrating wait for many people, I am delighted the NHS has been able to reach this agreement with an alternative company that was ready to put patients first.

“You’ll likely have never heard of Phenylketonuria – a little known, difficult condition to manage, especially for parents of young children, which can lead to brain damage.

“Sufferers can generally lead healthy lives but at the expense of eating a highly controlled, low protein diet.

 “As a doctor I think it’s fantastic that the Daily Express, a tireless campaigner for families with complex diseases, has shone a light on this poorly understood condition.”

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The National Society for Phenylketonuria is the national charity for those in the UK living with the rare genetic disease PKU.  

NSPKU Chairman Eric Lange told the Daily Express: “This is a special day which brings this great news that people of all ages with PKU can access sapropterin.

“I want to thank the people with PKU and their families who have fought so hard to have fair access to this drug.  

“Sapropterin has been available across the world for more than 10 years.  

“It has needed persistence and hard work to get this medicine for everyone In England.  

“The fight won’t be over until we have equal access across the UK in Wales, Scotland and Northern Ireland.

“Sapropterin is a life changing drug for those that respond to the treatment, but it does not work for all patients with PKU.  

“As new therapies become available we will continue to campaign so that all people with PKU can access the medicines that help them live healthy lives.”

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Desperate families with the genetic condition PKU first contacted your campaigning Daily Express in December 2019 – pleading for our help.

We had already won an NHS drug victory alongside cystic fibrosis sufferers, another rare genetic condition which babies are tested for at birth.

On March 1st 2020 our PKU campaign hit the news stands packed with heartbreaking stories, coinciding with the charity NSPKU’s annual conference weekend.

Those at the conference filmed a “thank you” video for the paper and our amazing readers, as they acknowledged we were now fighting their corner.

Since then the Daily Express has relentlessly tried to tell the always inspiring – but often tearful – story of the UK’s few thousand sufferers.

Through dozens of articles over 20 months we’ve urged drug makers to discount treatments, appraisers to approve them and the NHS to buy them.

Our first breakthrough came in June this year when NHS drugs appraiser NICE indicated they may approve sapropterin for those aged under 18.

Demanding it for all we kept on our pressure, soon seeing NICE change that ruling in August this year to those aged 21 and under, and pregnant mums.

Now we are proud to toast the determination of the PKU community, as your campaigning paper celebrates another life-changing victory.

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COMMENT BY STEPHEN POWIS

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COMMENT BY ERIC LANGE

This is a special day thanks to the great news that people of all ages with PKU can access sapropterin.

I want to thank all the sufferers and their families who have fought so hard to get fair access to this drug.

Sapropterin has been available across the world for more than 10 years. It has needed persistence and hard work to get this medicine for everyone in England. But the fight won’t be over till we have equal access in Scotland, Wales and Northern Ireland.

Sapropterin can be life changing, but it does not work for all patients with PKU.

As new therapies become available we will continue to campaign so that all patients can access the medicines that help them live healthy lives.

• Eric Lange – NSPKU Chairman