A 19-YEAR-OLD with a rare disorder that leaves him unable to digest protein is calling for a drug to be available on the NHS which he claims would change his "life forever".
Liam Lowe, from Sutton Manor, was diagnosed with the condition phenylketonuria (PKU) shortly after he was born, which means he cannot eat more than eight grams of protein per day.
PKU is caused by the deficiency of an enzyme called phenylalanine, the absence of which causes phenylalanine to accumulate in the blood, which can result in brain damage.
His mum Michelle Lowe, 55, says after confirming the diagnosis when Liam was just days old doctors told her: "If you do not keep on top of this he with be physically and mentally handicapped by six months old."
A form of treatment, Kuvan, is available in other countries but not available on the NHS – which instead recommends a strict diet and medication.
Kuvan would see those living with PKU take a pill each day and allow them to have a "normal" diet without many restrictions.
The National Society of Phenylketonuria has been campaigning for the NHS and Kuvan supplier BioMarin to work together to find a solution to provide the drug, and Liam and his mum want to join that fight.
Liam said: "Having Kuvan would change my life forever because it would give me that freedom to go off diet.
"That seems small but I'd be able to socialise a lot more, I'd be able to have what friends are having, I'd be able to think about living out at university.
The alternative food available to Liam plus his medication
"I'd be able to travel easier because. At the moment we'd have to take a lot of stuff with us to do that which would cost in baggage because we'd have to take scales and a letter from the doctor.
"Mentally it's not worth the stress so all my life we've only been away two times.
"Kuvan would change my life completely and take away the stress, migraines and tremors I suffer with now.
"I have tremors in my hands and I get brain fog at times. It affected school and college with my concentration levels and sometimes I struggle to write because of the tremors.
"I don't think you can put a cost on what what it would give me as a person. I could just get on with my life."
His mum Michelle added: "I had this tiny newborn baby and was told that if I didn't keep control of his diet for all of his life he wasn't going to be here anymore."
Throughout Liam's school life Michelle would take in his meals, 'coolers' (Lophlex) and have countless discussions with teachers, some of whom, she claims, dismissed her concerns.
Liam has to have four of these 'bitter tasting' 'coolers' every day
The mum-of-two added: "I had health workers and teachers telling me I was wrong and that he would grow out of it or that his diet was like following a Weight Watcher's Diet or that he needed an Epipen. Which meant every day I was scared if they didn't listen to what I said.
"We met with a dietician twice a week when he was little, then once a week. Now once a month we do blood tests at home and see a dietician every six months to test how he is doing.
"What if I was a single parent? How would someone manage that with this diet? I've been lucky to have my husband support us so I can do this for Liam but not everyone is in that situation.
"That's why Kuvan should be available on the NHS because you can't put a price on a person's freedom.
"It's the psychological freedom as well because people who have chanced it and come off diet said they suffered from depression, anxiety, eczema, mood swings, vomiting and all sorts, so he's on the diet for life for a better outcome."
PKU is discovered in the heel prick test babies receive soon after birth. Only one in 15,000 babies have the condition.
NSPKU campaign manager, Katherine Learoyd, said: "Kuvan has been licensed for over 10 years and is acknowledged to be a safe and effective treatment for PKU that can help people live healthy lives.
"People living with PKU in our country are very frustrated and worried that Kuvan is routinely used in almost every developed country in the world apart from the UK.
"We continue to ask BioMarin and the NHS to work together to get a deal for all people in the UK who could benefit from this life changing drug. A solution is long overdue."
An NHS England spokesperson added: “We understand how difficult it must be for families affected by PKU and why they are calling on the company to help make this treatment available by lowering their prices.
"The NHS works hard to strike deals which give people access to the most clinically effective and innovative medicines, and at a price which is fair and affordable, which is exactly what our patients and the country’s taxpayers would expect us to do.”
Marie Rimmer, MP for St Helens South and Whiston, said: “I believe it is terrible that people like Liam have not got access to the life changing and life preserving drugs they need. I welcome BioMarin’s response to MPs and their commitment to work with us.
"However, Liam and many others need these drugs now. BioMarin has no competitors in the market for Kuvan and so need to put the sufferers of PKU ahead of their own profit margins.”
To sign the petition calling for Kuvan to be made available go to
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