Call made for better support for PKU patients and carers in Commons debate

Portsmouth South MP speaks up for local families in Westminster Hall, calling for Government action

Stephen Morgan MP has called on the Government to do more to support PKU patients and their carers in a Westminster Hall debate today. This comes after he was approached by a Portsmouth family affected by the condition.

Portsmouth mum Tara’s daughter, Hollie Mae, suffers from PKU, a rare metabolic disease which means Phenylalanine, a component of protein, is not broken down and builds up in the blood and brain, causing brain damage.

The only treatment for PKU that is currently funded by the NHS is a very restrictive diet, in which most sources of protein are removed from the diet to prevent brain damage.

It is common for patients with PKU to eat very small amounts of natural protein a day – equivalent to the protein in no more than one or two slices of ordinary bread.

To avoid malnutrition, a special protein replacement is administered throughout the day to provide the main source of nutrition. This is chemically derived and unpalatable. Patients also rely on specially manufactured low protein foods which are available by prescription.

Speaking in the debate on Tuesday morning, Stephen said:

“The briefing I was sent by the excellent NSPKU describes the protein replacements as ‘unpalatable’. Now Mr Robertson, I have tasted these replacements myself and I can assure you they are being polite. These replacements are absolutely rank.

But they don’t just taste disgusting. They form part of an incredibly prescriptive and restrictive diet that not only consumes a huge amount of time, approximately 19 hours per week, but also makes living a normal life, particularly taking part in typical social activities intolerably difficult.

Hollie-Mae’s mum, Tara, says they hardly ever eat out. When they do, they have to bring separate food. It’s the same at friends’ houses.

It’s inevitably a difficult diet to manage, and, because no young person likes to stand out as different, PKU makes sensitivity and insecurity around food and eating particularly pernicious amongst its teenage victims.

These young people just want to live normal, happy lives. But PKU too often exacerbates our teenagers’ vulnerability to eating disorders and so it is also a mental health issue.”

Kuvan is a tablet that is dissolved in water and taken once daily. In people with PKU Kuvan helps restore the ability of the faulty enzyme to break down phenylalanine (thereby reducing phenylalanine levels in the blood).

Kuvan works for about 25% of the population with PKU. In England, it is estimated that about 300-330 individuals with PKU would be treated with Kuvan if it was made available.

BioMarin have informed the NSPKU that their repeated attempts to meet NHS England to reach a pricing deal have been ignored.

In Westminster Hall, Stephen urged Government ministers to act:

“I’d hope the Minister would agree that the opportunity to offer those with PKU, and their families, hope of a better life is not to be missed.

I would suggest that this means meeting with the manufacturers of Kuvan, a once-a-day tablet that works for a quarter of those with PKU to restore the ability of the faulty enzyme to break down phenylalanine…

It means making life that little bit easier for families and PKU patients by fixing the fragmented service currently on offer and smoothing or simplifying the chain from specialist metabolic clinic… to GP… to pharmacist… to courier. Complications in which constantly cause grief for patients.

It definitely means ending the exclusion of PKU treatments from the prescription charge exemption list for long-term conditions, the logic of which is lost on me.

Chair, PKU is a rare disease, but this shouldn’t mean it deserves any less of our attention.”