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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 Shutterstock / Afanasiev Andrii Shutterstock / Afanasiev Andrii / 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 PKU.ie 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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6 Comments
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    Mute Ciaran
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    Mar 22nd 2025, 4:39 PM

    Stop throwing women’s sport down our throats. If we wanted to watch , we would. The reason why people don’t watch women’s sport in general compared to men’s is because men’s sport simply
    Is better to watch and at a higher level. We all know women aren’t as fast, strong, skillful or aggressive as men. It’s the difference between watching the Ireland u14s and senior team. Different league and entertainment and let’s not cod ourselves thinking otherwise .

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    Mute mark madigan
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    Mar 22nd 2025, 4:57 PM

    @Ciaran:
    Ciarán keep your g string on. If you don’t want to watch it switch channels you sad little man.

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    Mute Me Me
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    Mar 22nd 2025, 5:18 PM

    @Ciaran: Men’s rugby is turning into a defence dominated dirge-fest. But in general your comment is sexist, ignorant and misogynistic.

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    Mute Stiles
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    Mar 22nd 2025, 5:30 PM

    @Ciaran: but what about foxy boxing?

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    Mute Sinead Cosgrave
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    Mar 22nd 2025, 7:43 PM

    @Ciaran: here’s how it goes Ciaran women pay the TV licence, women watch women’s sport, it’s called equality so Ciúnas please … oh and I’d report the person who forced you to watch to yhe Garda if I were you !!

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    Mute king kong
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    Mar 22nd 2025, 7:56 PM

    @Ciaran: Relax lad no one is forcing you to do anything. If women’s sport upsets you that much why did you read the article?

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    Mute Ciaran
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    Mar 22nd 2025, 9:42 PM

    @Me Me: classic modern society, I don’t like what someone else has said so I’ll call names .. what I said is factual , women are weaker, slower and less agile than men in general in our species and in most animals. Here, let me find a junior cert biology book so you can better understand, princess … “me me” seems a little bit self entitled …

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    Mute Ciaran
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    Mar 22nd 2025, 9:44 PM

    @king kong: I didn’t read article .. nobody reads the articles here Einstein … people come here for the comments .. duh

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    Mute Ciaran
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    Mar 22nd 2025, 9:46 PM

    @Sinead Cosgrave: women don’t watch women’s sport. Ask a woman on the street to name 4/5 female rugby players … see how many she gets.. then ask to make 4/5 male rugby players… and you wonder why women get less money in sport ? Rookies

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    Mute Ciaran
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    Mar 22nd 2025, 9:50 PM

    @mark madigan: I don’t wear g strings .. sorry to ruin your fantasy fruitcake ..and I would bet easily that I’m bigger than you haha

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    Mute Donal Hickey
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    Mar 22nd 2025, 10:08 PM

    @Ciaran: womens gaa was a lot more entertaining than the shite the men served up last year

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    Mute derek claffey
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    Mar 23rd 2025, 1:27 AM

    @Ciaran: calm down there a lil bit C, its a report on a women’s international game, nothing more, nothing less. It wasn’t obligatory to read for you to read, or indeed vent your spleen on it.
    Any of us that were lucky enough to have daughters who played sports cheered them on and supported them as much as we did with our sons.
    It’s obvious you have a certain distain towards women’s sports, simple solution for ya, if it obviously antagonises you so much, don’t watch it, don’t read about it and above all dont……………… (fill in as appropriate.)

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    Mute Alan d
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    Mar 23rd 2025, 6:56 AM

    @mark madigan: Watching women’s Ruby is terrible . Simple

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    Mute Me Me
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    Mar 23rd 2025, 7:06 AM

    @Ciaran:

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    Mute Me Me
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    Mar 23rd 2025, 7:12 AM

    @Ciaran: I didn’t call anybody name. I said your COMMENT was sexist and misogynistic. Why? For saying that women are not as skillful or aggressive as men. And your comments are incorrect about most animals too. I would suggest you read beyond a JC text book. Try the biologist Lucy Cooke.

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    Mute Ciaran
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    Mar 23rd 2025, 10:03 AM

    @Me Me: women aren’t as skill full or aggressive as men.. it’s a fact.. let’s have the Irish men v Irish women’s rugby and see what happens.. USA American womens soccer team lost to Dallas FC under 15 boys.. Serena Williams said she wouldn’t even be ranked in top 100 of men’s players… and she is the greatest women’s player of all time.

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    Mute Sinead Cosgrave
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    Mar 23rd 2025, 10:23 AM

    @Ciaran: I do

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    Mute Me Me
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    Mar 23rd 2025, 10:34 AM

    @Ciaran: Put a heavyweight boxer against a flyweight. Does that mean the heavyweight is more skullful?? More aggressive? No, just more powerful.

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    Mute Ciaran
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    Mar 23rd 2025, 10:46 AM

    @Me Me: why do women not play with / against men in most sports ? Because it’s an unfair competition and they can’t compete directly , and that’s ok. We all know it even if you dont.. stop living in denial princess

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    Mute Me Me
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    Mar 23rd 2025, 12:48 PM

    @Ciaran: Compete separately because of disparity in size and strength.

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    Mute john kenny
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    Mar 22nd 2025, 4:03 PM

    Steady improvement over the past 2 six Nations. Really gutsy competitive performance compared to the previous beatings against this excellent French side .

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    Mute John Morrissey
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    Mar 22nd 2025, 5:14 PM

    Cracking game, highly entertaining, let’s stop slagging the ladies! Will be cheering you on in cork!

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    Mute Alan
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    Mar 22nd 2025, 7:22 PM

    @John Morrissey: and I’m sure women couldn’t give a flying f…k what men think about their game. Great to see women’s sports and their supporters forging on

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    Mute William Jennings
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    Mar 22nd 2025, 4:05 PM

    Look, there’s some improvements it must be said but the team still aren’t the complete package. Granted, France are probably the third best team in the world at women’s rugby, but there were so many errors from Ireland inside the French 22. Accuracy from them kicking tee was the difference between the two teams. The French fly-half was 5/5 while the Irish fly-half O’Brien was 0/4 and left 9 points out on the field. I am optimistic though because the team is in a much better place than 2 years ago when they finished bottom of the Six Nations and got beaten by France 53-3 and the victory against the All Blacks in the Autumn Internationals last year.

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    Mute Brian I
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    Mar 22nd 2025, 4:08 PM

    The place kicking was embarrassingly bad, and ultimately very costly.

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    Mute Sinead Cosgrave
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    Mar 22nd 2025, 4:10 PM

    @Brian I: totally agree, decision making wasn’t great either.

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    Mute qffaffaf affrafrfraf
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    Mar 22nd 2025, 3:42 PM

    pathetic performance, lets stop with the codding

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    Mute Deano74
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    Mar 22nd 2025, 3:51 PM

    @qffaffaf affrafrfraf: yea, admittedly I didn’t see it,but a 27-15 scoreline kind of contradicts the headline.

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    Mute Sinead Cosgrave
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    Mar 22nd 2025, 4:09 PM

    @Deano74: they got the final try close to the end of the game, it was close up to the 70th minute

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    Mute Deano74
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    Mar 22nd 2025, 5:28 PM

    @Sinead Cosgrave: fair enough,I didn’t see it.

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    Mute Toca Stories
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    Mar 22nd 2025, 5:55 PM

    Ireland really good except for their kicking. That was the difference between the teams. You won’t win if you can’t kick any of your points and have to keep kicking to the corner cause you can’t convert penalties. The French kicker was able to convert everything so it can’t be the conditions.

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    Mute David craddock
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    Mar 22nd 2025, 5:29 PM

    Ireland go close ? What game were you watching?

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    Mute Sinead Cosgrave
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    Mar 22nd 2025, 7:45 PM

    @David craddock: did u watch it ?

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    Mute Tom McBride
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    Mar 22nd 2025, 7:44 PM

    Hardly close, 2 scores.

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    Mute John Moore
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    Mar 22nd 2025, 9:17 PM

    27-15 isn’t really close. Just another comprehensive defeat.

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    Mute Toca Stories
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    Mar 23rd 2025, 12:43 AM

    @John Moore: If Ireland could convert pointsot would have been level. Not comprehensive at all

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    Mute Keth 417
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    Mar 22nd 2025, 5:04 PM

    Holy Gods! All that bashing, tumbling and ggggnasshing and trashing As a man, I wouldn’t even do that…but I’m a coward and a weakling. A shrinking violet, I tell you!

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    Mute William O leary
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    Mar 23rd 2025, 8:14 PM

    nobody cares

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    Mute offside again
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    Mar 23rd 2025, 12:28 AM

    I wouldn’t like to come up against some of the women out there. Ok, maybe. Ok yes ; I wouldn’t say no to being fought over in the ruck … ahem … Very entertaining game !

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