2 days ago
An Irish family's race against time for medication: ‘The boys are living their best life possible and we want to make sure they continue to do so'
Karen Thompson first noticed something was different about her son Conor when he was a baby.
'If a toy rolled off he wouldn't try to reach for it, or he wouldn't try to climb on the furniture. He'd always have little falls, he struggled on the stairs,' she recalled.
When she and her husband Jamie brought Conor, now aged 10, to the GP they were told he may have dyspraxia, a condition that affects physical co-ordination.
However, they began to question that after seeing social media discussions on Duchenne muscular dystrophy, a genetic disorder which progressively weakens muscle function.
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'We found out through my sister-in-law, who worked with a girl who had a child with Duchenne. She would put up posts on social media about warning signs to look out for,' she said.
Duchenne is almost exclusively seen in males, and as of 2022, approximately 110 people in Ireland were living with it.
The progression of the disorder varies from person to person but it can eventually inhibit the ability to walk and carry out basic movements. Children with Duchenne generally lose the ability to walk by 12 years of age. Beyond that, it can also affect the lungs and heart.
Following a blood test which confirmed that Conor's creatine kinase levels were high – which typically indicates muscle damage – he was diagnosed with Duchenne, one of the most severe forms of inherited muscular dystrophies. He was four years old.
It came as a surprise to Karen, who had originally thought she was 'going down the wrong path' as nobody in the family had been diagnosed with the inherited condition before.
While we're waiting now for our boys to get this, there are boys that will come off their feet in the next few months. It's heartbreaking, it's devastating
—
Karen Thompson
After Conor's diagnosis, his parents had the blood tests carried out on their other sons, Sam (who is now 11) and Dean (8).
Karen said that once Conor had been diagnosed, she 'instantly knew' that Dean, who was three years old at the time and also slightly behind on developmental milestones, had the condition. He was diagnosed following the test. Sam did not have the condition.
She described feeling like 'falling down a deep, deep, dark hole' following the diagnoses, but noted the support from
Muscular Dystrophy Ireland
(MDI) – a voluntary organisation providing information, home support and counselling services – that had given the family a 'ledge to hold on to'.
Last week, a medication called Givinostat, (also known as Duvyzat), already used in the UK and US, was approved by the European Commission on the condition it is only used to treat boys with the ability to walk,
meaning that accessing the medication is a race against time for the Thompsons.
Karen worries that her sons, and other boys with the condition, could lose the ability to walk before the medication is available in Ireland.
'While we're waiting now for our boys to get this, there are boys that will come off their feet in the next few months. It's heartbreaking, it's devastating,' she said. 'It's red tape, it's politics, it's all of the bureaucracy that's going to lose them their abilities.'
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The Thompsons, who are from Newcastle, Co Dublin, will be taking part in a protest outside Leinster House on Wednesday at 1pm to urge the Government and health authorities to expedite access to Givinostat.
Karen said, 'The boys are living their best life possible and we want to make sure they continue to do so.'
Following the demonstration, a briefing will be held in Leinster House for TDs and Senators to raise awareness of the condition. Minister for Health
Jennifer Carroll MacNeill
has also been invited.
Fianna Fáil senator and spokeswoman on health
Teresa Costello
said she will be taking part in the briefing and has created an information leaflet to give to those in attendance.
She told The Irish Times that it was not a case of the Government 'sitting on this medication' but rather one where 'the manufacturer needs to move on this'.
It's not about what you can't do, it's about finding a new way to do it
—
Karen Thompson
In a statement the HSE explained that pharmaceutical companies were required to submit formal applications if they want their medicines to be added to a list of reimbursable items or to be funded via hospitals.
As of Tuesday, 'a pricing and reimbursement application has not been received by the HSE for Givinostat', thus 'the national assessment and decision process cannot commence', it said.
The HSE noted, 'The decision of pharmaceutical companies to market licensed medicines, ie whether or not to submit a formal application, is outside [its] control.'
Italfarmaco, the drug's manufacturer, has been approached for comment.
In the meantime, Karen said MDI had showed her family 'a window into our new world'.
'It's not about what you can't do, it's about finding a new way to do it,' she said. The Thompsons are focused on 'making sure every day is a good day' for the boys. Both of them attend a mainstream school and have a 'great little crew of pals'.
Conor went on his school tour on Monday with the assistance of a power wheelchair. He enjoys playing with Lego and learning the piano, while Dean likes playing with his toys and listening to music. Both enjoy swimming.
'Like most boys their age, they are obsessed with gaming too,' Karen said. 'They're fun, crazy little lads.'
