PKU campaigners thank Daily Express for support over Kuvan
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Phenylketonuria, or PKU, is a genetic condition leaving over 3,200 UK sufferers unable to eat protein without risking brain damage – so no dairy, fish, meat, pasta, eggs, bread and even some vegetables. For 13 years sapropterin eased PKU brain damage fears across Europe yet our health chiefs refused to pay for it – but last December after our 20-month campaign NHS England agreed to a deal, followed by Wales and Scotland.
Now finally health bosses in Northern Ireland have joined suit in striking a deal for sapropterin access for their 250 sufferers, making it now available in all four nations.
However, campaigners have vowed to fight on as NI health chiefs are only offering the drug to youngsters up until their 22nd birthday – when the wonder pill would be cruelly taken off them.
Yesterday overjoyed Eric Lange, chair of charity NSPKU, told us: “Sapropterin now available in Northern Ireland is an important milestone. It’s a life-changing treatment for PKU and is now available in all parts of the UK.
“Yet it’s disappointing that Northern Ireland does not make it available for adults over the age of 22. Our charity will keep campaigning to remove this discriminatory age limit – to bring availability in line with England, Wales and Scotland.
“Lastly, I would like to thank the Daily Express for supporting our campaign which has transformed many people’s lives.”
Delighted campaigner Kate Learoyd, 49, mum to PKU teenage son Alex, said if the NI announcement: “It is brilliant news sapropterin is now available in all the UK.
“As campaigners, we often felt like we would never win. The system could feel heartless and we had so many disappointments. However, the hard fight was definitely worth it!
“Many children and adults feel so much happier and healthier thanks to the medicine. PKU was ignored for too long so I’m really grateful to the Daily Express for campaigning alongside us.”
Another lead campaigner Caroline Graham, 56 – mum to PKU sufferers Callum, 28, and Holly, 26 – said: “My children accessed this drug in April and it’s changed their lives – they are so much happier and brighter.
“The objective of the campaign was always to get the drug to the whole of the UK. I am delighted this has now happened. Yet many living with PKU will not respond and we will not forget about them.”
A Northern Ireland Health and Social care spokesperson told us without “ministerial input” from any Stormont politicians they are only currently able to make the drug available to under 22s.
Since 2006, Northern Ireland has accessed advice from England and Wales’s drugs appraiser – the National Institute for Health and Care Excellence (NICE).
NICE’s current advice on sapropterin from summer 2021 is outdated, as it’s based on a more expensive brand called Kuvan, so they suggested it only be available to those aged 21 and under and pregnant mothers.
Yet in December 2021 NHSE ‘bypassed’ NICE to agree on a deal with pharmaceutical giant Teva for their cheaper generic sapropterin – and made it available for all ages in England, with Wales and Scotland following suit.
NI chiefs said with the power-sharing government not functioning since February – and no ministers to make decisions – they are sticking to the old advice for set for Kuvan, with the age 22 cut-off.
They told us: “Any potential change to the policy in Northern Ireland to allow sapropterin for suitable patients aged over 22 years would require Ministerial input, which is not available at this time.”
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 30 percent of PKU sufferers – as for around 70 percent the drug fails to have a positive effect.
For the lucky 30 percent though, it reduces the need for low-protein foods and supplements by a staggering 71.2 percent, enabling sufferers to eat restaurant menu dishes or cook using a wider range of natural ingredients.
Stanley, 3, waits for super diet
Three-year-old Marvel fan Stanley Steers loves running around his home like the Incredible Hulk – and is a brave superhero when it comes to dealing with his PKU.
But mum-of-two Emily Steers, 27, dreams of the day her boy gets to take sapropterin as Wales already has a deal in place to test and offer the wonder drug to patients who respond to it.
Teaching assistant Emily, and Armed Forces husband Stephen, 29, of St Athan, South Wales, were shocked to be told by medics that Stanley was born with PKU, as their first child Emelia, now six, never had the rare genetic condition.
The couple had never even heard of PKU and had to look it up, and spent the three years since learning best how to feed Stanley while crucially avoiding protein in his meals.
The youngster is only allowed three ‘exchanges’ a day, with each exchange being a gram of protein – to put it in context, an average slice of white bread is worth four-and-a-half exchanges.
Wales got their sapropterin deal last December, just like England, but the rollout has been painfully slow – with every patient having to be tested for suitability before then being granted a trial on the new NHS drug.
There is a feint chance Stanley will respond well to the wonder drug – and Emily told us that’s something she is desperately hoping for, for the sake of her son.
She said: “Stanley’s at the age now that he understands that he must eat things differently to us and his friends.
“He even says ‘poorly head mummy?’ when he sees food he knows he mustn’t have, as too much protein could lead eventually to brain damage.
“Sadly he is getting lots of chest infections at the moment as he’s started nursery and is picking up colds and infections.
“Every meal has to be planned for and just one cream cracker at break at school is one of his three exchanges for the day so we have to be especially careful weighing every ingredient to every meal.
“If he was able to eventually take sapropterin next year that would mean so much for us as a family and him as a growing boy and we are so happy Northern Ireland now also has the chance to access it.”
The rollout in Wales is going slowly due to all the testing that needs to be done on each patient to check suitability and response to the drug.
Stanley has had some gene tests which show the possibility of a response so he is now waiting for a chance to trial the drug itself early next year.
Mum Emily added: “It would mean everything to get the drug as it could dramatically change his life.
“As he gets older his portion sizes will grow but the number of exchanges he is allowed may not – so he will have to be stricter with his diet which would be tough on him. A lot of things revolve around food with children!”
”It fills me with a lot of hope”
University graduate Carys Hopkins is hoping that starting sapropterin next year will give her the energy boost she needs to resume topflight women’s football – as in her teens she played for Scotland in goal.
Carys, 21, achieved a first-class accountancy degree after a four-year course and is now training to become a financial advisor, with crucial exams next May.
She is so dedicated to her dream career, she’s even putting off trialling sapropterin to see how she responds until next spring, so they don’t interfere with her study.
But Carys, of Glasgow, hopes finally getting on the PKU wonder drug will give her a huge energy boost and even enable her to regularly play top-flight women’s football in the Scottish league, for her side Hamilton Academicals.
Carys proudly played for Scotland under-15s in net and had a successful career in goal for Academicals until Covid hit – although she started training again with them last summer.
But she said the health boost from sapropterin would really help her finance day job and her love of sport – and is delighted to hear that Northern Ireland have joined the rest of the UK with offering the PKU drug.
She explained: “I’ve always been an active and sporty child and never let PKU restrict me in what I wanted to do or achieve.
“I have always known sapropterin was around but with years of no access in the UK I have just got on with managing my condition myself.
“I had tough times like every child with PKU. I often felt self-conscious about eating different foods to my classmates and was also often bullied – so those were hard days, but my parents were very supportive.
“It has been extra hard though when doing topflight sport as you do need lots of time in the gym strengthening your body and only have synthetic protein to work with is harder to build up muscle.
“I love football and have always enjoyed playing at an early age and when I got selected for my country at school, I was so proud.
“But I’m equally as dedicated to my financial career and with huge exams to enable me to be a financial advisor coming up in May I wanted to focus solely on those – so have put my PKU trial on the back-burner for now until they are over.
“Yet just the thought of having that potential option next year is wonderful and fills me with a lot of hope for the future.
“Even if sapropterin does not work for me I know there are lots of future treatments being created and worked on my Britain’s brilliant PKU scientists and medics and that also fills me with hope for mine and others’ futures.”
‘Emotional’ to see Isla, 7, eat treats, says mum
Seven-year-old Isla O’Neill has seen the world of food open up for her since starting PKU wonder drug sapropterin almost a year ago – thanks to England’s landmark deal.
The keen dancer, of West Heath, near Birmingham, lives with her mum and dad Sue, 41, and David O’Neill, 45, who still have to make sure every meal is planned well in advance.
Before she started on sapropterin, Isla was allowed around 10 exchanges (grams of protein) a day – now thanks to the drug she is on up to 30, massively increasing the natural foods she is allowed to enjoy.
And one of her greatest joys, after she began trialling the wonder medicine in January 2022, was to finally be able to try ice cream and cake – after years of having to avoid them at friends’ birthday parties.
Her mum Sue, who works in finance, told the Daily Express that she hopes PKU sufferers in Northern Ireland will now be able to enjoy the benefits of sapropterin too.
Sue said: “We know Isla and ourselves as a family are very fortunate to have the drug as only around 30 percent of sufferers to positively respond to it – so having access to it does not guarantee it will work for you.
“But now those in Northern Ireland have the chance to take it means finally all the UK has access and that is a huge step forward to where we were a couple of years ago.
“Since she started last January it really has transformed Isla’s life in a positive way.
“She’s always been a happy, sensitive and very caring child – she is everyone’s friend and very loving and has always just got on with life despite the restrictions of PKU.
“But we always hoped sapropterin would work for her and when she started we’ve been able to introduce her to more foods and it can be quite emotional to see.”
When Isla was born she had a ‘heel prick test’ like all babies, to check for a number or rare genetic diseases like PKU and cystic fibrosis.
So Sue and builders merchant David were shocked when days later while at home with their newborn they heard a knock at the front door and nurse from Birmingham Children’s Hospital was there.
Sue explained: “She asked us all to come with her immediately and we met a dietician who told us Isla had PKU. We had no idea what it even was. We were terrified and after they told us we thought ‘what the hell is she going to eat?’
“We had to develop a system to feed her and learn to weigh and plan everything. Children’s parties meant Isla going basically with a packed lunch. That’s what PKU kids have to do, it’s sad as they can feel different.
“Luckily for us she has never been a massively hungry or greedy child but we do try to eat similar meals to her, so she doesn’t feel disadvantaged by her PKU constantly.
“Now the sapropterin going forward will enable her to eat a wider range of foods and we are so thankful for that.”
A huge relief this day has finally come
Battling parents Anne-Marie and Ben Hoey (main photograph) are thrilled by the Northern Ireland announcement – as it paves the way for their three year-old twin girls to access the wonder drug.
Two years ago the Daily Express told readers about identical twin toddlers Georgie and Emmie whose PKU restricts their Christmas turkey dinner to just potatoes, peas and carrots as without sapropterin they must avoid protein.
The twins are desperate to eat the same food as older sister Matilda, five, but cannot as she does not have their genetic condition and is lucky to have an unrestricted diet.
Accountant Anne-Marie, 41, has even had to take a career break to care for the twins, now aged three, as although they have started part-time nursery need constant monitoring of their supplements and meals.
But the mother-of-three, of Ballymena, County Antrim – married to husband Ben, 39 – has told us the news Northern Ireland is set to offer sapropterin to its patients is finally a glimmer of hope and joy on the horizon.
She explained: “It is hard for people to understand the daily struggle we have a family without the drug, to make sure the twins have a very regulated diet and avoid helping themselves to food in the fridge or cupboards.
“Even their treats, they are allowed eight protein portions or exchanges a day, amount to one cream cracker – so they must eat different meals to their friends.
“It is hard for them to understand why they have to drink their foul-smelling synthetic protein supplement everyday – I tell they need it to grow but they don’t really comprehend it’s importance.
“I have been speaking to politicians for years and even at Stormont to urge the access to sapropterin in Northern Ireland and it is a huge relief that this day has finally come.
“We have an idea from some tests that the girls could respond well to the drug so we desperately hope they will be able to take it when it arrives.
“But I won’t smile, relax or slow down until I have had that phone call that they are being called in for testing or that they can start on the drug – that is still our end goal.”
Twins Georgie and Emmie are thrilled about this coming Christmas and have written Santa a long list of presents, mainly wanting toys their older sister Matilda already owns!
But despite their festive dinner on 25th December being the same restricted fare, the family hope next year’s dinner will allow the girls to possibly have their first proper turkey meal with all the trimmings.
Mum Anne-Marie added: “It’s not such a bind for them to miss out on things like pings in blankets as they’ve never had sausages or bacon so don’t know what they are missing.
“But as they get older they are becoming more aware of what they are not eating compared to others and as parents we just want them to be as happy and healthy as they can possibly be, and hopefully next year that will be with sapropterin.”
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