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MUSCULAR DYSTROPHY IRELAND (MDI) has again called on the Government to fund Translarna, a treatment for boys with a specific type of Duchenne muscular dystrophy (DMD).
DMD is the most common form of muscular dystrophy and it’s estimated there are around 100 boys and men living with it in Ireland. The condition affects approximately one in 3,500 male births.
It arises due to the absence of dystrophin, a gene found on the X chromosome, which is vital in holding muscles together. The condition results in a progressive loss of muscle strength and leads to other serious health issues, such as heart and lung problems.
Earlier this year, the National Centre for Pharmacoeconomics (NCPE), which conducts the health technology assessment of pharmaceutical products for the Health Service Executive (HSE), did not to give the green light to Translarna.
It was not deemed cost-effective. The price would be over €400,000 per child per year. MDI estimates two or three children would be eligible to receive the treatment annually.
MDI has said that, since the NCPE report, discussions between the makers of Translarna, PTC Therapeutics International Limited, and the HSE have “yielded little progress”.
A spokesperson for MDI told TheJournal.ie the organisation “acknowledges that this is an expensive treatment, however to date it is the only available medication for these children”.
“We are calling on both the HSE and the manufacturer to come to an arrangement that ensures a fair price is paid, thus giving these boys access to treatment as soon as possible.
“For a small number of people Translarna would make a huge difference in slowing the progression of the condition and in keeping them on their feet for longer.
It means that they may experience more of what life has to offer and delay the requirement for other medical and social care supports. For young people and their families whose quality of life and life expectancy is significantly impacted by this condition, this is of immense value.
The treatment is already being prescribed to boys in over 20 countries within the European Union and was recently made available in Northern Ireland and England.
MDI said Translarna is the first treatment to “target the underlying genetic cause of Duchenne muscular dystrophy and is for children whose condition is caused by a particular genetic defect”.
Losing ability to walk
As boys have only one X chromosome, they are more susceptible to dystrophin damage, unlike girls who have a second X chromosome to make up for the damaged gene – consequently, boys are much more likely to be affected by it.
Typically, boys with Duchenne lose their ability to walk between the ages of 10 and 14 years and will require the use of a wheelchair. By their early teens, they will lose strength in their upper bodies, including movement in their arms.
As it progresses, the condition is severe enough to shorten life expectancy. Research into treatments is ongoing but there is no cure.
Clair Kelly, Information and Research Officer with MDI, said Translarna only applies to “a very small number [of boys] who have a very specific genetic defect”.
“Even then, it is only available to those who are aged five years and older who are able to walk.
The window of opportunity is a narrow one as around the age of six years muscle power starts to decrease, with most boys unable to walk by age 12. It’s clear that time is not on their side and they can ill afford this waiting game.
MDI is reiterating its stance on the treatment to mark World Duchenne Awareness Day, which is happening today.
HSE
Kelly called on the Health Minister Simon Harris “to intervene and to ensure that the boys that desperately need this therapy receive it without further delay”.
The HSE had not replied to a request for comment at the time of publication.
The Department of Health sent us the below statement, which was also read out by Harris in the Dáil last month: “The HSE has statutory responsibility for decisions on pricing and reimbursement of medicinal products under the community drugs schemes, in accordance with the Health (Pricing and Supply of Medical Goods) Act 2013.
Prior to deciding whether to reimburse a medicine, the HSE considers a range of statutory criteria, including clinical need, cost-effectiveness and the resources available to the HSE.
“Decisions on whether to reimburse medicines by the taxpayer are made on objective, scientific and economic grounds by the HSE, on the advice of the National Centre for Pharmacoeconomics (NCPE).
“The NCPE completed a health technology assessment of ataluren (brand name Translarna) in April and did not recommend reimbursement. The HSE is currently considering the NCPE report,” Harris said.
‘Simply agonising’
Lewis Harte, a five-year-old boy from Castlebar in Co Mayo, has the condition.
His mother Ann Marie Harte said valuable time is being lost waiting for Translarna to be approved: ”Treatment delayed is treatment denied.
The longer we wait for Translarna to be approved, the longer patients with Duchenne muscular dystrophy like our son suffer from the unchecked deterioration of their muscle strength.
“It is so unfair knowing that there is a treatment out there that can help him but is being denied to him. This is a race against time that we don’t have. It’s simply agonising,” Harte said.
To mark World Duchenne Awareness Day, MDI will be hosting a Facebook Live Question and Answer session from 3 to 4pm. It can be watched here. More information about MDI’s services can be read here.
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We are older couple one undergoing chemotherapy at moment , our hot water tank/ cylinder started leaking badly yesterday water running down the downstairs wall , we tried to get several emergency plumbers but none would come out because of virus, my wife was crying begging them to come to no avail, thankfully our son got young plumber friend to come last night he stopped the leak but we’ve no hot water or heat today , the plumber is trying to get part today to fix it .
@Alan Martin: Sorry to hear that Alan. You should get your son to look out for a dehumidifier also if he can. I hope everything works out for you and your family.
@Alan Martin: what part of the country are you in. I know a good plumber in wexford who would help. I could help with cleaning etc. Taking necessary precautions.
@Philo: gosh fair okay to you. I’m sure it would be a wonderful help if it works out.
@Alan Martin: whet a time for this to happen:(. Hope you get it sorted and some heat and hot water back into your home. Stay safe
@Philo: I live in Dublin, young plumber and mate are here at moment hopefully will get it sorted many thanks
@Alan Martin: if not fixed and if a plug-in stove heater would be any use to get you over the hump, just email me – jamesjphilbin@gmail.com
@Alan
I’m in kilkenny have a plumber here fixing my tap he was great to come .works on his own ,phoned younger lads with vans going around wouldent come
@Alan Martin: I’m in Dublin – south side – if you need a fan heater or electric blanket – I can let you have these. Just PM me. Hope all works out for you.
@Alan Martin: If you try ringing Age Action Care and Repair (01) 475 6989 they might be able to help you
@Alan Martin: hope it’s sorted soon Alan. To the replies I can only applaud…. decent well bred Human Beings.
@Alan Martin: have you got sorted yet Alan? I can offer my assistance if needed.
Thanks everyone who replied and offered help , the young plumber and his friend are here at moment hopefully they will get it sorted . We are away from them in sitting room with electric heater , haven’t been out since last week (hospital) . Thank God it’s only affecting us oldies be really terrible if younger people or children affected.
@Alan Martin: it’s not oldies that’s being infected, everybody is at risk
@Alan Martin: don’t ever be afraid to ask for help, whether it be here, on Facebook, anywhere. Yes, there are many people too sick or too vulnerable and many people under too much pressure already but, there is always help out there for people who ask. I’m very glad you got sorted.
@Alan Martin: there is a Ireland tradesman support group on facevook, plenty of lads who would give you a hand if you reach out. Good luck
Not mentioned in the article is that you can be a carrier without contacting or showing signs of a virus.
Be safe out there people
@Paul: …contracting…
@Paul: nobody is above suspicious! everyone single person in society is a possible carrier and must be treated like that!
@Bobby wilson: we must treat ourselves as carriers, to avoid passing it on.
We can all beat this dangerous virus that’s invaded our lands! if we all stand together as one people on the island of Ireland and obey all the strict medical advice we have been told! there is sizable minority out there who don’t care and resist any form of authority been imposed on them, culture of this disrespect for law and order! they would be the kink in our armour of defence against this dangerous virus we are all battle against tooth and Nail
@Bobby wilson: a lot of politicians everywhere disrespect the law and are richly rewarded for it as in Trump
@Bobby wilson: which island?
We need to plan for the worst – I really hope the HSE are setting up some make-shift hospitals in hotels near our main hospitals as they are preparing in Germany – so less critical patients can be triaged into them – leaving room in our hospitals only for the serious and critially ill. Any news on this?
@Spbeak: really good numbers coming from Germany only 2% serious or critical,
@Alan Watts: they are saying it will rise dramatically very soon as spreads more in Germany – the initial cases were mostly young healthy skiers coming back from Italy etc. – but that has given them some breathing space to prepare – plus have 20k ICU beds and tonnes of equipment.
@Spbeak: HSE is setting up in citywest hotel in dublin
@Spbeak: have a look at this https://youtu.be/vcGWaBMa7eE
This doctor explains how they’re dealing with it by making a CoVid Stream. Was at A&E yesterday and witnessed this, it’s super efficient and protective for everyone
@Liz Beeee: Thanks Liz, great to see. Gotta love Baz
@Spbeak: i hope they’re preparing a master suite in Monart for me. feeling a tad wheezy!
The best advice so far is to conduct yourself as if you have it..
The journal comments is becoming common place for China conspiracy theorys, guys yes the Chinese government were slow to react they didn’t believe we had another SARS at large but worse, it moved so fast across Wuhan, as soon as they realised how bad it was they mobilised the majority of its resources and people towards fighting it, I believe the Chinese they kept the globe save from SARS
@Alan Watts: and they’ve already exonerated that whistleblower doctor and his colleagues which is a very rare thing to do for them,
@Alan Watts: That is blatantly untrue. The Chinese government worked first and foremost to keep a lid on the information coming out on the new virus. They bear a huge responsibility in the pandemic, from its origins in wet markets – which, by the way, have been the birthplace of many previous epidemics – to letting it be unleashed on the world. The first thing we must all do is tackle the pandemic and get it under control. But once this is done, the Chinese government must be held to account and the world’s relationship to China must be well scrutinised.
@Alan Watts: they allowed the wildlife farming and unsanitary wet markets because of greed. And, it was in those conditions that this virus spawned. The same conditions that spawned the SARS outbreak. The Chinese government put in place a temporary ban on wildlife farming and wet markets after that outbreak, but money and greed drove them to repeal that ban, leading to this outbreak. They did some fantastic work dealing with the afters of the outbreak, but, if the Chinese had maintained that ban this outbreak would never have happened in the first place.
@Alan Watts: sorry mate, too many virus’s have came from China, this is the straw that has broken the camels back.
@Ths Fer: and the Spanish for the Spanish flu for 20 million deaths +
? Hong Kong for the 1968 flu for 1 million deaths?
Or maybe the Congo for HIV/Aids for 36 million deaths.
Nobody can be held responsible for viruses.
@Tom kenny: not true.
@Ths Fer: we wouldn’t be able to cope as nations without cheap labour from China
@Brendan Cooney: European governments put a lid on the spanish flu epidemic for as long as they could look at how that ended
@Brendan Cooney: add bisexual men to be included in blame for the hiv/aids crisis
@Brendan Cooney: the Spanish flu didn’t originate in Spain, it’s origin is unknown but is thought to be either Britain, France, China or the US as the first known case was on a military base in Kansas.
@Ths Fer: You talk as if any government would’ve reacted faster. Chinese was the first hit and how could they figure out the nature and features of the disease immediately? They didn’t cover up purposely they just didn’t want to cause panic to 1.4 billion people which is fair enough. Ireland has less than 5 million people and you know about this virus since late January but people just didn’t take it serious until this month and still panic buying happened. They’ve done a lot more measures to contain the spread but the media here don’t report the details only report on their lockdown which is simply not the full story.
@Brendan Cooney: p
@Brendan Cooney: how untrue?
@Wendy H: On Dec 30, Dr Li Wenliang was one of several in Wuhan who sounded the first alarms and released initial evidence online. Dr Li, who was punished for releasing the information, would perish from the disease five weeks later, after contracting it from a patient.
On Jan 1, after several batches of genome sequence results had been returned to hospitals and submitted to health authorities, an employee of one genomics company received a phone call from an official at the Hubei Provincial Health Commission, ordering the company to stop testing samples from Wuhan related to the new disease and destroy all existing samples.
Then on Jan 3, China’s National Health Commission (NHC), the nation’s top health authority, ordered institutions not to publish any information related to the unknown disease, and ordered labs to transfer any samples they had to designated testing institutions, or to destroy them.
It was Jan 9 when the Chinese authorities finally announced that a novel coronavirus was behind Wuhan’s viral pneumonia outbreak. Even then, the transmissibility of the virus was downplayed, leaving the public unaware of the imminent danger.
Finally, on Jan 20, Dr Zhong Nanshan, a leading authority on respiratory health who came to national attention in his role fighting Sars, confirmed in a TV interview that the disease was spreading from person-to-person.
A study by the University of Southampton indicates that if Chinese authorities had acted three weeks earlier than they did, the number of coronavirus cases could have been reduced by 95% and its geographic spread limited.
@Brendan Cooney: Governments should be blamed for their actions or lack thereof in times of crisis. The fact is that wet markets have been the source of multiple pandemics in the last 50 years, with one cropping up every 5-6 years recently. The Chinese government has done nothing to close them down. Even worse, when the pandemic broke out, their authoritarian system ensured that no one would dare report bad news up the food chain so they stuck their heads in the sand, delayed response, and outright falsified data or destroyed evidence as they tried to keep a lid on this. They wasted a month and a half, which led to scores of garnment industry workers returning to northern Italy with the results we’re now seeing.
@Brendan Cooney: One of the major problems governments are now facing is the lack of available, trustworthy data to base their response upon and the fact that the Chinese government has now expelled American news reporters and is pushing blatant propaganda that the US army is actually responsible for the outbreak doesn’t give much reassurance on the credibility of anything coming out of China. So bottom line, yes the Chinese government is to blame and you’d be wise to quit carrying water for a repressive authoritarian regime.
@Alan Watts: That is true and does not speak well of our own societies. Maybe we should also rethink some of the ways we organise supply chains and our economical and political priorities in the wake of this catastrophe.
@Wendy H: JimmyMc’s comment will answer your point better than I would. I hope you’re just misinformed and not a Chinese operative.
@Alan Watts: and there still eating wild animals wtf
@kevin mc cormack: most don’t eat wild animals. It’s only a select wealthy part if Chinese society that does. This group, along with the industry body that supports it, is what put pressure on the Chinese government to repeal the ban that was put un place in the wake of the previous SARS outbreak. The vast majority of Chinese people do not eat wild animals, so not farm wild animals and do not frequent wet, wildlife markets.
@Brendan Cooney: The so called Spanish flu originated in China
@Brian Ó Dálaigh: exactly it’s like anyone with morals wouldn’t be killing animals for fun, theres only a select few that are that sick, Trumps sons
@Brendan Cooney: Spanish flu had nothing to do with Spain. Google it.
@Brendan Cooney: Spanish had nothing to do with the ‘Spanish Flu’ they broke the story, because they were not in the war, they had high casualties of death from flu..
The Origins of the ‘Spanish Flu’ is supposed go be a chicken farm in Kansas although recently American scientist have been saying it actually originated in China.
Anyway it was spread by American troops, who were stationed in Europe and it spread throughout the world..
@Pauline Gallagher: no it didn’t. It more than likely originated in the US. Many documentaries about it!
@EillieEs: It originated in the US from a farmlad in Kansas, who in turn got it from a chicken. A programme on it in 2018. It fascinated me how it was traced back to a specific farm in Kansas, considering the millions of US soilders on the move across the Atlantic at that time. Many caught it before leaving the US in training camps and Kansas had one of the biggest in the US. Many were aready carriers before they left the US, when hone on leave, many got sick on the voyage or died en route. The US military knew they had an epidemic on their hands but enter the war they must.
The flu pandemic lasted two years, from Jan 1918 to Dec 1920. A quater of the worlds world’s population are estimated to have gotten it and figures of deaths are guesstimates from 20 million up to 100 million.
It came to Ireland from returning soilders. It was called the Spanish flu in mid 1918 when the virus spread from France to Spain and the world’s press picked up on the pandemic. Prior to that, it was kept under wraps due to the war and censorship.
Imagine surviving years in the trenches only to die from the flu.
Why not take over hotels (pay them a decent rate) and use them to isolate mild/moderate cases for 2 weeks. The Chinese said that most transmissions in Wuhan occurred within family units. At least if people are isolated in hotels you could break the chain of transmissions within families etc. You could also then provide medical care to people in isolation in the hotels who didn’t need to be in hospital thus freeing up hospital beds and lowering the risk of introducing it into hospitals.
Be calm and please everyone be safe and self distancing and we will fight this big monster and we will get through it alright
It’ so sad that Hospitals received donations of medical equipment from TV Shows in Trumps America, bring on November. Trumps have to be booted out and get rid of. Never leave them forget how he acted during this Pandemic in which called a Hoax.
@Ossi Fritsche: there is a shortage of medical supplies worldwide due to a unprecedented global pandemic. Its not just america. Or Trumps fault
@Ossi Fritsche: apparently his approval ratings have increased. Unbelievable!
@Ann-Marie Tyrrell: heard that too. But the poll was only 500 people. Probably all work for one of his companies!
Could we all move from hand shaking to bowing like the Japanese going forward. Might take a while to get used to though!
@Karin Muller: why do people need to shake hands? It’s mental anyway.
@New Remedy Europe: I don’t think it’s mental. Societies all over the world use some form of touch in a greeting and have probably done so for time immemorial.
Even continental double cheek kiss. It breaks barriers between people and builds bonds. Have you ever been introduced to a person and nodded. Then in Europe you’re introduced and double cheek kiss, it’s invading one another’s space to exit your comfort zone and connect. Same as a handshake – add skin touch to a “hello” and it seals it more.
Not now I know! all gotta finish. for now!
The testing is too slow for the tracing to have any impact the damage is done by the time they detect and trace . I know someone waiting to be tested since Wednesday and no confirmed date to be tested yet and the people that person was in contact with are not self isolating as it’s not confirmed yet and they are walking around potentially infecting others without knowing . HSE please speed up the testing and tracing otherwise ……..
@Lorraine mcafee: I think people can play their part too.
Feel.you have symptoms? Ring for test.. self isolate and contact your close contacts to tell them and suggest they restrict their movements too. They prob not need to self isolate but prob should assume they might have it and keep contact minimum..
47% of Irish population is o type blood , so we may get some reprieve as o type is showing to be less susceptible . Otherwise we’re miles behind and I don’t think we will get to where the Chinese did tech wise to stop this spread . So entire country lockdown looking more inevitable with lack of action in tracing and testing .
@Lapsy Pa: Chinese found no cases that had red hair and freckles so that is good news also
@Lapsy Pa:
I have heard before about blood types reactions to different foods.But why would it be beneficial with this virus…
@Lapsy Pa: I read that study too,,, it’s interesting..
@Lapsy Pa: The whole blood types thing is a nonsense. Anyone can get this virus.
@Lapsy Pa: You don’t mention the medical study underpinning your statement..If there a credible one please post the link !!
But unless it’s published by a credible source such as The Lancet, JHU, etc.. it’s not credible ! up to now all known medical wisdom would say viruses don’t distinguish by blood type!!
This sounds like complete pseudo-science BS….and there seems to be plenty of it around at the moment .!
You seem to think Ireland is unique with 47% Type O Blood Type
But Type O +/- it’s the most common blood type in the world !
O-positive:
African-American: 47 %
Asian: 39 %
Caucasian: 37 %
Latino-American: 53 %
O-negative:
African-American: 4 %
Asian: 1 %
Caucasian: 8 %
Latino-American: 4 %
The approx % for 3 other Human Blood Types
~25% Type A
~20% Type B
~5% Type AB
@Pete Gilmartin: didn’t say you can’t get it , same with malaria O type have a naturally occurring defense mechanism that stops then going into a coma . You’re less susceptible to the worst of its effects
@XvSv: what ?
Life the sanctions on Iran!
Why is there no lockdown in Ireland? This pussy footing around is not working.
@Tanks a Minion: You mean an enforced military lockdown? What about domestic abuse victims, their lives matter as well.
Lock down for 2 weeks no one in or out see how it goes .Leo do it now .
@Mary Brennan: Abuse victims can die in those two weeks, is that ok? I thought the point of doing this social distancing is the fact that we as a society do not want to trade lives for comfort.
@Mary Brennan: You can’t just say “see how it goes” in relation to peoples lives and well-being. There are people that require the outside to escape high tension life threatening situations. You can’t tell everyone to lock themselves up to protect the vulnerable while being perfectly okay with putting a different group of vulnerable lives at risk, thats not compassion, thats agenda.
@Aaron O’Leary: Why military? I would call it common sense, a logical response to a pandemic. So, you are saying thousands should die so that a small number of abusers MIGHT abuse less? Wow. Abusers are not stopping because of the virus.
@Aaron O’Leary: Unfortunately, the entire population is at risk. Abuse victims needs to be protected from the virus, too.
Governments across Europe are learning from Italy whose numbers are still rising and now higher in % terms than china. But Ireland has had one of the biggest 1 day % increases in new cases in the world. If you look at the WHO reports it seems that we wont know for at least 6 weeks if the measures Ireland and the Uk have taken has had the required effect to keep the number manageable
@paul: Your right Paul our 191 rise was the same as 2000 increase in many other countries. Our medical staff doing great job saving lives.
TV shows in America are playing their bit by donating props etc. Fair City should donate John Deegan !!!
Please Leo and Simon – close all borders immediately and lock us down. I told you so. This is only going one way. That is to a disaster. Act now.
Link not working
Does anyone know if 1. Test centres and 2. GPs work over weekend ?
have your say