We need your help now
Support from readers like you keeps The Journal open.
You are visiting us because we have something you value. Independent, unbiased news that tells the truth. Advertising revenue goes some way to support our mission, but this year it has not been enough.
If you've seen value in our reporting, please contribute what you can, so we can continue to produce accurate and meaningful journalism. For everyone who needs it.
Sign in. It’s quick, free and it’s up to you.
An account is an optional way to support the work we do. Find out more.
By continuing, you are indicating that you accept our Terms of Service and Privacy Policy.
INCREASING THE AMOUNT of protein people eat is often recommended as part of a healthy diet.
However, some people have to strictly monitor the amount of protein they digest or face serious side effects. Phenylketonuria, or PKU, is a rare genetic disorder that affects a person’s metabolism. People with the condition need to maintain low-protein diets.
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.
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 phenylalanine, a dangerous build-up can develop when a person with PKU eats foods that are high in protein such as meat, fish and eggs.
According to the HSE, approximately one in every 35 individuals in Ireland carries one affected gene. If both parents of a child carries the defective gene, they have a one in four chance of having a child with PKU.
The PKU Association of Ireland notes that, if untreated, PKU can result in permanent brain damage. Screening for PKU takes place for all newborn babies in Ireland, through the heel prick test, and across Europe.
There is no cure for PKU, but a build-up of PHE in a person’s blood and brain can be prevented through a highly restricted, low-protein diet. People with PKU need to undertake regular blood tests and take dietary supplements.
Gary Conway was diagnosed with PKU at birth. The 30-year-old from Dublin says living with the condition can be very difficult.
“I can’t eat foods like meat or fish or nuts. I can only eat very small amount of lentils – they’re not really worth eating.”
People with PKU can order food through the long-term illness (LTI) scheme, but Gary says the selection is “not great” and often of a “really poor quality”.
“The bread is terrible, that’s one of the main problems, everyone talks about that. Something as simple as being able to eat better quality bread could make a huge difference.”
Gary has tasted PKU-friendly foods available in other countries and says the quality is often better, but they would be very expensive to buy. A loaf of bread, for example, could cost about four times more than a normal loaf.
When asked about the foods available to PKU patients through the LTI scheme, Health Minister Simon Harris previously told the Dáil: “The HSE has statutory responsibility for decisions on pricing and reimbursement of products under the community drug schemes, including the LTI Scheme, in accordance with the provisions of the Health (Pricing and Supply of Medical Goods) Act 2013.”
At the time of publication, the HSE had not responded to a request for comment. On its website, the HSE has a breakdown of foods that people with PKU should or shouldn’t eat, they are categorised as:
The PKU Association of Ireland describes living with PKU is “a constant daily challenge”.
The PKU low-protein diet has been a major success. It has prevented generations of people from developing acute mental and physical disabilities as a result of their condition. However, it is a punishing and sometimes very difficult diet to stick to, can severely affect a person’s quality of life and can have long-term health consequences.
The association notes that people who have to adhere to such a restricted diet are believed to be at a higher risk of suffering from attention deficit disorders, poor concentration and low energy levels.
The diet may also be associated with an increased risk of obesity and neurological side effects. The association says “much more research is needed in this area”.
Lack of awareness
Gary is speaking out about his condition to mark International Rare Disease Day, which is taking place today.
He says lack of awareness about the condition, including among some healthcare professionals, worries him.
“Unless you have someone in your family with PKU, or a close friend, you’re never going to know anything about it.
“I don’t know what the future is going to hold if I end up in a care home, no place is going to understand what [PKU] is, I worry that I’m not going to be looked after.
Nobody knows what it is, it’s always a big worry for me and other people with PKU who are getting older – that people won’t be able to look after us because they won’t understand our condition.
Gary says during a previous hospital stay he was unable to eat most of the food available as it would aggravate his condition.
As people with PKU often end up eating a lot of carbohydrates, weight gain can be an issue. Gary says this is another difficult element of the condition and something he tries to combat through exercise.
The amount of protein a person with PKU can eat varies with each individual and is determined through regular blood testing.
Gary can eat about 15g of protein a day. Until he was 18 years old, he could only eat 8g daily. If he exceeds this limit he begins to feel unwell. Some of the symptoms he experiences include anxiety, headaches and a lack of concentration. It can also affect his speech.
“I develop a speech impediment, it’s really hard to get words outs. It’s not slurring, it’s a bit of a stutter.
“I also lack concentration, I’m not focused, you could be talking to me and I’d simply not be taking it in at all.”
Kuvan
A drug known as Sapropterin or Kuvan is used to treat people with PKU in other countries. It is not suitable for all patients with the condition. A trial of Kuvan was carried out in Temple Street Children’s Hospital in Dublin in 2005 and 2006, with some positive results.
In 2009, the National Centre for Pharmacoeconomics (NCPE) deemed that the drug was not cost-effective and therefore did not recommended the HSE fund it. The drug is again being assessed with a view to it possibly being made available here, something the PKU Association of Ireland is calling for. The NCPE had not responded to a request for comment at the time of publication.
Gary wants a larger trial to be conducted here so more patients with PKU can access the drug. He says the treatment has proved to be a “life-changer” for some people in other countries.
Unless people are given a chance to try it, they won’t know if it works for them. It doesn’t work for everyone but it works wonders for some people, it changes their lives completely.
The PKU Association is currently conducting a survey about the need for new treatment options for people with PKU. The results will be submitted to the NCPE.
More information about PKU can be read here, while more details on Rare Disease Day can be read here.
To embed this post, copy the code below on your site
I’d be interested in the number of cars being brought in from outside the State. With the current level of Sterling and the cost of cars here I would suspect many people are importing their cars. Even with the VRT a significant saving can be made.
VRT is a disgrace
Aren’t all cars brought in from outside the State? Of course the SIMI would have you think they are inferior making import a dirty word for cars.
I did. Bought a 2013 Mazda from U.K. For a lot less than one here. Bought an SEL NAV with 50,000 for £9600 (13500) at the time, 18 – €19,000 here. Complete inflated. Goes with our insurance and car tax I suppose.
Motor industry lobby the government over reg plates. They forced the government to bring in the reg plates we have now. The year forces people to have the latest car. Your registration should be given with your licence and should be for life no matter what the car. If two people drive the same car or each others car than you can share a regular number. Also government should get rid of illegal VRT tax as per EU law.
@lez ferguson: VRT is not illegal – http://www.revenue.ie/en/tax/vrt/faqs-vrt.html#question2
To be honest I think a practical solution to the problem of uninsured drivers would be to link car tax and insurance to the number plate. No insurance, no number plate, no tax paid, no number plate. In Denmark where I live they use this system and if you dont pay your car tax or insurance the police take your number plate. As its also illegal to have an unregistered vehicle if you’re not a car dealer you have to get rid of the car or pay up or they seize the car as well. Insurance for first time drivers here is about €1000 highest for comprehensive falling to €300 after 5 years.
@lez ferguson:
Please explain how the number on the plate “forces” people to buy a new car?
I have a sore tooth, can I blame the government for that as well?
No one is holding a gun to peoples heads when they are singing purchase agreements.
Regarding. Your link says the oppsite
@Mick Jordan: Is English your first language?
@P.J. Nolan:
“singing purchase agreements”??
I’m a mean barotone myself
Enjoyed reading the convoluted alternative plate systems. But I can’t think of a dafter reason to choose a car. Unless by horoscope ;-)
If at all possible walk cycle or use public transport. Get rid of the car and get rid of insurance, motor tax and maintenance.
And fuel costs.
How would the Government be able to raise revenue then? If the takings from tax on Fuel, insurance, car purchases etc were abolished.
The air we breathe…
@Niallers: That’s fine for single people, not a hope for most others though. Only city dwellers can get away with that.
@Mr Snuffleupagus: Era the dutch manage it, I’ve seen them fit 5 people on a bike!
There’s the electric cars for those of us with families too… Check on the low tax, no fuel, still stuck with the pesky insurance mind. 2 outta 3 is still better though! :)
@Jane Bresnan: The Dutch have a very good existing transport system, and very few hills! When you have t0 cycle up Patrick’s Hill in Cork (almost vertical), or have to cycle a 10 mile round trip to travel no more than 2 miles as the RSA don;t allow cyclists on dual carriageways or through the Jack Lynch tunnel connecting the northside and southside, you begin to realise cycling in Cork is for students.
I’ve saved about 1,500 cycling to and from work every day. It’s about 8k each way, not ideal at the start or when it’s raining but invest in a decent rain jacket, bike and headphones and you’ll never look back. If I leave during rush hour it’s often quicker to get in and home, plus the government aren’t taxing the hole off you.
Headphones, why would you cycle with one of your key senses impaired. Enrages me when i see senseless cyclists do that. Idiot
Try living outside a city where the closest bus service is over 25km away…
@Mr Snuffleupagus: We manage with one car between the two of us. I get the bus to work. We have a car available for when one is needed. I would imagine it is actually harder for a single person because there are some things you can’t do in this country without a car (especially if you live outside Dublin), so you almost always need access to one at least.
@Fargo Boyle: When cycling there’s nothing to Hear! In urban areas all you can hear is traffic. if its raining all you can hear is traffic, tyre roar, air brakes etc. In rural areas all you can here is the wind, cars approaching etc. (yes you can still hear ambient noise while wearing earbuds)
Listening to music while cycling is no different to watching a movie with a musical soundtrack..it adds to the enjoyment.
“When cycling in Ireland and it’s raining, invest in good head phones…” – brought to you by the Road Safety Authority
Fargo. An enraged individual is more dangerous than a cyclist wearing headphones. Beware of enraged individuals.
Try walking with headphones – the mic often picks up and amplifies sounds. It’s a careless bias. Sirens can be more piercing even with earbuds in. Maybe don’t go by what you see.
Lmao
Alan Kelly,exactly, you need to hear the traffic.
@Paul Whelan very funny lol!!! said nobody…..
@Fargo Boyle: Hear traffic? Why? why do you have to hear traffic?
So you’re aware what’s coming behind you and
From blind spots. Obviously eyes are more critical but countless times some idiot on a bike wearing headphones has swerved out in front of me. Had they had their sense of hearing,I doubt it would of happened. Listening to music in a very personal way i.e headphones is distracting. Your senses can you help you and keep you safe, cycling on a public road with traffic with one critical sense less is foolish and dangerous. I’m not entirely sure but,is it illegal now?
i hate the year on the number plate
makes people think they need a new car which is probably why we have it , does any other EU country do this
@David Cullen: Agreed. Why cant they have month and year , location as the number plate. eg 17 01 D 1234 would tell you, the car is (17) is 2017, month (01) is January, (D) is Dublin and 1234 is the 1234th car registered in that period. Looking at the present system more then 27% of cars are bought in January. This would enhance the second hand value of say November and December cars. (eg 16 12 D 213). They use that system in Portugal. At least it will space out more even cars sales throughout the year. Also help NCT and Motor Taxation queues.
I have an 09 Opel (well Vauxhall its a UK import) its running well and is in good condition. It has over 200k miles on it, mostly put on it by me, but why would I change for a 171 reg when the only real difference between them would be the numbers on the clock, straddle myself with circa €400 a month of a repayment bill to drive basically the same car as I have now, as cars haven’t really changed in the last ten years. Plus a second hand basic spec from the UK has the equivalent spec as the mid to top range spec in Rep of Ireland. The NCT (which is a massive scam) now means that cars are effectively worth nothing after ten years no matter how good of condition they are in. There should be some system where by if a car receives a certain “score” in the NCT test then the cert will last 2 years, between score A & B then the cert lasts a year, between score B & C then the cert lasts 6 months and below score C then it fails. This would actually encourage people to take better care of their older cars.
@Anthony O Reilly: Nct is a scam promoted by the simi and helped by the AA, Working in the trade for over twenty years Ive see stupid fails and some unbelievable passes,
We obviously need to break the registrations down to quarterly or even monthly now to keep the registrations active !
Have to admit that I really taken with the idea of an electric car. I have always been a true petrol head from my first mk1 savage cortina , capri’s , Granada’s and even a Manta 400 right up to our RX7 but I was greatly impressed with a friends Nissan leaf. I think it might very well be my first new car.
@Michael Clinton: but they’re so ugly… can’t wait to see how much Tesla Model III will cost here…
I know Daniel but I never said I would get rid of the RX7 , The “leccy” car would be the daily and the RX7 would be the weekend special. Mind you Completecar.ie have done some super reports on Hybred/electric cars.
@Daniel Dudek Corrigan: You better have a look at the new Hyundai Ioniq, it is certainly not what you call so ugly. No VRT either.
@Dave Green:
Do Hyundai pay their staff well Dave?
@P.J. Nolan Do any car manufactures pay their staff well.
@Dave Green: What about Renault Zoe? How does it compare performance wise? I’m thinking of getting electric car too?
I wonder what the increase in NOx emissions has been since the introduction of the new motor tax system.
Exactly. People got too hung up on the CO2 emissions when the NOX are far more harmful to humans (and far higher in diesel cars)
Yep. There are rumours that Honda plan to ditch diesel engines in the near future.
People were pushed into Diesel cars by the Greens. If you can afford a large BMW saloon car with €190 tax why wouldn’t you buy it.
As for Electric cars – we need to look at the end to end life cycle from production through use to disposal. They might not have as good green credentials as people think.
@Ted Logan: I drive a 2002 Mercedes. I could go out and buy a new one tomorrow, and I wouldn’t need a bank loan for it either. Personally. I think new cars are a phenomenal waste of money. I’ll let others worry about depreciation, and pick them up years later with low mileage and a good service history.
I paid 1500 for my current car 3 years ago and it has cost me nothing to run it beyond petrol, insurance, car tax, tyres, and a few bulbs and the annual service. . That’s 3 year of ‘cheap’ driving to date. In that time my insurance has rocketed to 1k, my car tax is close to 700 and my petrol consumption about 40 a week. So. I’m getting away lightly. I won;t change it until it costs too much to fix. If it lasts another 10 years, I’ll still be driving it.
Good point. Still, fewer components, so I guess the first wave might trade in all right if upgrading to a more streamlined one. Be good to see how they hold up. If they came down in price secondhand, more first-time drivers would try one.
What defines a new car being ‘sold’…On PCP finance?
PCP is the work of the devil.
As a a self employed person If I bought new van now in 12mths it would need a doe even if it has only 10km up on it.
Now why would i ever bother buying a new van/car van etc. For me personally if the doe was 100k or after 3 years then I’d be tempted to buy new more often but as it stands unless I win the lotto or I get a great trade in offer , I wont ever be buying anything new.
@Angry Gaming: DOe is way less stringent than the NCT though. Much easier to pass and there are also way more test centres as lots of local garages have the ability to test the DOE. I’d prefer the DOE to the NCT anyday. My van used to pass it no problem, when I’d be going back for a retest with the car.
@Mr Snuffleupagus:
While you may well be right regards the DOE been easier than the NCT, my own experience of having both a van and a car would back you up on that, the cost of the DOE is considerably higher (€95 compared to €55 for NCT) and you have to do it every year from year 1
I wonder what is the ‘right’ number of new cars per year. In that a number that ensures a good stock of quality, safe cars, but not at the expense of people buying new cars that they really cannot afford.
have your say