Latest news with #dyspraxia
Irish Times
11-06-2025
- Health
- Irish Times
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. READ MORE '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.' [ SOS cancer hotline making 'a real, tangible difference in the lives of people going through chemotherapy' Opens in new window ] 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.'
BBC News
03-06-2025
- Health
- BBC News
'Playing darts helps me overcome my dyspraxia'
Growing up, Jackson could not enjoy the simple childhood pleasure of riding a bike after being diagnosed with dyspraxia, a developmental disorder affecting balance and the 17-year-old says he has "amazed" doctors by becoming an accomplished darts from Skegby in Nottinghamshire, says his passion for the sport began when his grandad gifted him a magnetic dartboard when he was three - and he has since gone on to win a world says practising and competing is helping him to overcome his ongoing condition. His mother Jayne told the BBC: "He was into darts ever since he's been able to pick up one and throw it."When we told the doctor he played darts, she was amazed and I think if she saw him now, she'd be even more amazed with how well he's done despite his dyspraxia."Jackson said the condition still affected his "chalking" [adding up his score] but not his actual throwing - with his mother crediting the power of "muscle memory"."I think people are surprised when they hear I've got that condition but nowadays it's just kind of easy for me," Jackson 2024, he won the International Disabled Darts Federation (IDDF) Youth World Championships and reached the semi-finals of the England Academy Masters. He has competed in tournaments in Scotland, Gibraltar and Germany, and has set his sights on qualifying for the Professional Darts Corporation to compete against the sport's elite. Jackson says the key to his sucess are good form, the right set of darts and plenty of practice."Since Luke Littler's come on to the scene, a lot of people want to use his darts and his tips, which are 41mm tips," he said."Many people cant throw those, you need to find what works for you."His success led his parents to setting up King Darts Academy in Mansfield Woodhouse for children and young people, where they said Jackson's story had been an inspiration to other Jackson has no issue with putting in the hours to reach the next level, spending up to seven hours a day honing his skills - and even more in the run-up to a tournament."I absolutely love darts so I just practice, practice practice," he said.
