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'If I stay in Ireland, my daughter could be slipping through my fingers'

People with PKU, a rare genetic disorder, are fighting for access to medication.

shutterstock_658579453 File photo Source: Shutterstock/Afanasiev Andrii

PHENYLKETONURIA, OR PKU, is a rare genetic disorder that affects a person’s metabolism.

People with the condition need to maintain highly regimented low-protein diets, with 95% of “normal” food off limits.

Despite being rare, Ireland has one of the highest rates of PKU in Europe. About one in every 4,500 babies here is diagnosed with PKU or a milder form of the condition, compared to about one in every 12,000 babies in the UK.

Yesterday, the PKU Association of Ireland (PKUAI) addressed members of the Oireachtas in a bid to raise awareness of the condition.

If untreated, PKU can result in permanent brain damage and other issues.

An average adult diet includes about 70gm of protein per day. For someone on a PKU-approved diet this drops to just 4gm daily (the equivalent of one small potato).

A low-protein diet helps people with the condition but the PKUAI describes it as “punishing and sometimes very difficult diet to stick to”. It’s also expensive – a low protein bread supplement is about four times the price of a normal loaf of bread, for example.

People with PKU also need to undergo regular blood tests and take dietary supplements.

original Source: PKU.ie

PKUAI spokesperson Emer O’Reilly told TheJournal.ie diet alone will not help people with the condition. Her daughter Chloe, who will be two next week, has PKU.

A drug known as Sapropterin or Kuvan is used to treat people with PKU in other countries. It is only suitable for a fraction of patients with the condition.

Last month, the National Centre for Pharmacoeconomics (NCPE) deemed that the drug was not cost-effective and therefore did not recommend the HSE fund it.

Of the 734 patients with PKU currently receiving hospital care here up to 27 would be eligible for the treatment, according to the NCPE. The organisation has estimated the drug would cost about €12.6 million over a five-year period.

Emer says people with PKU feel as though they’re “coming up against a brick wall” in terms of campaigning to get Kuvan funded.

She says so-called orphan drugs, which are used to treat rare conditions, such as Kuvan are unlikely to ever get the green light from the NCPE due to their high cost. Kuvan is available in several other European countries.

Emer says she’s aware of children who are now able to consume 16gm of protein a day, up from 4gm, due to the drug. ”That’s still small compared to other people, but it’s hugely significant for them from a dietary perspective,” she says.

Moving to another country 

If Kuvan is not made available here, Emer says she will consider moving to another country.

If I stay in Ireland, [my daughter] could be slipping through my fingers. She could develop brain damage.

“I know we will have to move because I have to get the best care possible for her.”

When asked about the high cost of Kuvan, Emer says: “I get it, of course there’s money involved. We’re not just trying to take people’s money … Every charity, every disease has a legitimate story to tell, we’re just trying to educate people.”

Newborn babies in Ireland are routinely screened for a number of conditions including PKU via the heel prick test, which is carried out during the first week of a baby’s life.

“Why do the heel prick test to test if they have the condition, if you’re just going to let them deteriorate? As a mother, is it fair to watch your child deteriorate?,” Emer asks.

PKU is caused by a defect in the gene that helps create the enzyme needed to break down the amino acid phenylalanine (PHE), which is found mostly in foods that contain protein. Without the enzyme necessary to process PHE, a dangerous build-up can develop when a person with PKU eats foods that are high in protein such as meat, fish and eggs.

European guidelines 

Recently published European best practice PKU guidelines acknowledge that the best clinical treatment is not diet alone, but a combined approach of diet and medication.

The HSE, which is expected to make a decision on funding Kuvan next month, had not responded to a request for comment by the time of publication.

When asked about the situation in the Dáil on Wednesday, Taoiseach Leo Varadkar said: “The government does not decide which medicines are reimbursed and which ones are not. There is a process in place to do that involving the National Centre for Pharmacoeconomics and the HSE.

“The decisions are based on objective criteria. To date, there have been two applications for reimbursement. It was determined by the medical, clinical and economic experts that this particular medicine was not sufficiently effective at the cost proposed.”

More information about PKU can be read here.

Read: ‘Nobody knows what it is’: The rare genetic condition that means people must avoid protein

Read: As it happened: ‘The Eighth has caused endless problems, you need to legislate’

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