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'A treatment that can help my son is being denied, it's agonising'

Duchenne muscular dystrophy affects approximately one in 3,500 male births.

Lewis Lewis Harte and his mother Ann Marie. Source: MDI

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.

Read: ‘When I was born there was no hint of any disease’

About the author:

Órla Ryan

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