Latest news with #ActivatedPI3KDeltaSyndrome
Wales Online
15-06-2025
- Health
- Wales Online
Little boy 'was on 50 bottles of antibiotics' then his family got the best news ever about his dad
Little boy 'was on 50 bottles of antibiotics' then his family got the best news ever about his dad Jasper had an extremely rare condition and there was only a small chance his family might be able to help him Jasper is the only child in Wales with his particular condition (Image: Welsh Blood Service ) New Swansea parents Sophie and Matt Hodgson-Smith were at a loss when their son Jasper started experiencing health problems when he was merely eight months old. Even after several tests and being prescribed over 50 bottles of antibiotics, Jasper's symptoms did not improve, leaving his parents worried. That was until a rare diagnosis was reached years later and Matt was finally able to save his son's life. When he was seven years old, Jasper was diagnosed with a rare and life-threatening condition called Activated PI3K Delta Syndrome (APDS) that impairs a person's immune system, leaving them more susceptible to infections. Though the family had finally found an answer as to what was wrong with him, the road to being diagnosed was not easy. Jasper, with father Matt, and mother Sophie (Image: Welsh Blood Service ) 'Jasper started feeling unwell from eight months old and that was the first time that he had to have antibiotics due to a chest infection,' said Sophie. 'From then onwards, he had several lots of chest infections along with lots of hospital admissions… like up to six times a year Article continues below 'Before the age of six he was on 50 bottles of antibiotics… that's more than I have had during my lifetime.' Jasper showed a multitude of symptoms like lethargy, persistent high temperatures, and a lack of appetite. Stay informed on the latest health news by signing up to our newsletter here The experience was especially hard for Sophie and Matt, who were first time parents but the support they received from Singleton was crucial in determining what was wrong with Jasper's health. 'Being a first-time mum, it is hard to define what is normal and what's not,' said Sophie. 'His consultant in Singleton was really good. She had tried every avenue possible, she was a respiratory consultant, and we just pushed for all the tests.' These were what led to the eventual diagnosis. 'He had the children immunizations booster and his body hadn't made any reaction to the booster,' said Sophie. 'So that had alerted that something was incorrect within the blood, so that pushed them for genetic testing.' Jasper's condition is so rare that he is the only known child in Wales to be affected with it, while there are only 35 patients across the UK. The rarity of the condition is what made it hard for Jasper to be diagnosed, and though he had started showing symptoms when he was a baby, it wasn't until he turned seven that he was diagnosed. Only one in four APDS patients in UK find a donor within their family, Jasper was one of those (Image: Welsh Blood Service ) 'We knew that was something that wasn't correct,' said Sophie. 'We had tried lysis through fibrosis and all the other little things, but genetic testing isn't something that is widely done. 'His condition, APDS, was only found about 13 years ago, so it's still quite new and, it's quite rare, so I think there's lots of rare blood disorders.. and it's quite difficult to narrow it down.' Though the couple were relieved to finally have answers, there was still a long way to go for Jasper. 'It's good to get an answer. They tried to say that he had bronchiectasis and at the time of being told that, I knew that it wasn't the end,' Sophie said. 'You don't have bronchiectasis from nothing. So being told then that he has APDS was quite daunting. 'We walked into a room and it was, I think, six to eight people with professors and nurses and it was just the thought and process, like 'why are you here, and what are you going to tell me?'' For those who are affected by APDS, especially young patients, a stem cell transplantation gives a chance to cure the genetic defect. It works by replacing the abnormal immune cells with healthy ones. 'To be honest, I was quite thankful that he had a diagnosis, but then they started talking about the bone marrow transplant,' said Sophie. 'That alone…you end up researching everything and it gets quite difficult to comprehend what is going to be coming ahead.' Jasper went on medication after his diagnosis for a year, but Sophie and Matt knew that a bone marrow transplant was the only cure. His treatment consisted of recieving several blood and platelet transfusions, immunoglobulin replacement therapy, and chemotherapy to prepare his body for a stem cell transplant. However, the next big hurdle was finding a donor to match Jasper. The condition is so rare that only one in four patients in the UK are able to find a match from a family member. Fortunately for the family, Jasper's father, Matt was identified as suitable match, and the family couldn't have been happier. Matt was able to save his son's life with a "simple" procedure (Image: Welsh Blood Service ) 'We were over the moon. We were told that… it should be easy to find a match when actually, it wasn't,' Sophie said. 'We had two people who were on the worldwide register who unfortunately couldn't be a match because it wasn't 100%, so they were unable to use, which led us to no-one. 'We then had Matt's results back and that was just a huge relief. I didn't realise how little a family member is found, I've only recently found out that only one in four family members are a match. 'So we were quite lucky because when you get told if the dad, or if they've got siblings are not a match, you can be on that register for years or you don't find one at all.' The couple want to dispel some of the misconceptions about donating blood and stem cells, telling people that the process is much easier than people expect. "Blood disorders are as life-threatening as cancer and require just as much resilience," Matt said. 'Some people think donating stem cells may be painful or invasive. For me, the process was simple. I would do it again in a heartbeat if it meant saving someone's life.' Explaining more about the process, Sophie said: 'We were so thankful that Matt, his dad, could be a match and it made the process just a bit easier. Jasper, being seven, he got to see his dad have the injections. 'While we were up there five days prior to the transplant, Matt had two injections for five days. He felt like he was doing something for his child and he said he would happily do it again for anyone else. 'It was such an easy process. Something that people, again, have the wrong interpretation, they assume that they're going to be drugged with the hip bone when actually it's not. He was just put up to a machine. Five days later, it was all drained out of him, ready for Jasper.' Though his parents had the answers they sought, Jasper still had a long way to go (Image: Welsh Blood Service ) However, for Jasper, who is merely seven years old, the treatment will take time and several hospital vists. 'The whole treatment is around two years, so it's not something that happens overnight and I think that's what people forget,' Sophie said. 'People assume, oh you've had it and that's it. So we were up in Newcastle for five months and within that period Jasper was really poorly because obviously he had the chemotherapy so he was quite sick and then afterwards he's still on a restricted food diet. 'He's still on bed isolation so he can't mingle with family and friends, he can't go to school until next January, he can't go out. 'He really wants fish and chips and he can't have anything that food wise is prepared by anyone else apart from us as a family. So he's better in himself, but we've still got a long road ahead in terms of instructions.' Even during the treatment, Jasper has felt sick and had to be hospitalised. 'The whole transplant when you're in… he was in the hospital for seven weeks. Then you think that's the end, you think, oh, you've got to the halfway house, but it wasn't,' said Sophie. 'Four days later, unfortunately, he got readmitted. 'When we were there for the seven weeks, it was a controlled illness, is how I like to explain it. It was controlled, although he had chemo, we knew what was going on. 'When he was readmitted, it was really scary. He had 40C temperatures for two weeks and we didn't know what was going on. So that was hard because obviously he started losing weight, he was just lethargic, not really engaging much and no one can give us any answers.' Jasper with his parents in Newcastle (Image: Welsh Blood Service ) Due to Jasper's condition being so rare, there are only two places across the UK, that can do the transplant, one being Great Ormond Street Hospital for Children in London and the other being the Great North Children's Hospital in Newcastle, which is where Jasper was. 'We had to spend a long time away from home. Five months away from friends and family and our surroundings was really hard but the support that we had was amazing,' Sophie said. 'I couldn't thank his friends in the school, the mums, my family, Matt's family and all our friends, they were just so supportive. 'We had support from three lovely charities in particular, they were really small, one called Louie's Trust, another called Joseph's Smile, and another called Morgan's Army, and unfortunately all three of those charities had lost their little boys. So that was really heartfelt. 'In terms of the NHS, between England and Wales, they work quite closely together. The consultant from Newcastle travels down to Cardiff I think like four times a year, so we will see him quite regularly. We don't have to go back up to Newcastle.' Sophie is grateful to the staff at hospitals during Jasper's many hospital visits (Image: Welsh Blood Service ) But treatment has not been without impact for Jasper. 'Just before he turned six, that was the time that he started questioning 'Why me?', 'Why am I going to hospital?', 'Why I am missing out on school?', because he wasn't in school for quite a long period of time. 'Once he got told about the transplant, although he's seven, he's got like an old man's head. He's quite wise for his age. He understood it was six months, trying to learn this is going to be the cure…without telling him the complications, he took it on quite well. 'In the six months leading up to it, he knew that he had to be cautious in terms of hygiene and he's been really good throughout it all to be honest.' Because of her own experience of not knowing what was wrong with her son, Sophie reiterated that she wanted people to realise the importance of blood donation. 'I think I struggled as a first-time mum. I was like 25 years old, I didn't know what was right and wrong, although I felt mother's instinct that something wasn't right, it took us a long time to get a diagnosis,' Sophie said. 'I just wanted to make people aware that being on 50 antibiotics before you turn six, it's not normal. So I wanted to share his story and so, just to make people aware. "Although we were lucky to find a stem cell match through dad, he had platelets while he was up there, and he had blood transfusions, all thanks to the help of others. If it wasn't for them donating then he would struggle and we don't know where we'd be today.' Jasper and his parents are looking forward to the day they can go on adventures with their dog Pip (Image: Welsh Blood Service ) Jasper is now happy to be home, and is expected to start school by January. Once he is fit and well, the family are looking forward to beach walks and more adventures with their dog, Pip. Welsh Blood Service Director, Alan Prosser added: 'Sharing stories like Jasper's highlights the true value of donation and the difference it makes to patients and their families. "Jasper found a stem cell match within his family, but for most patients, their only hope to receive a stem cell transplant is from an unknown donor. 'We are busy recruiting more people to become blood donors and to join our stem cell registry and this National Blood Donor Week, there has never been a better time to sign up and join our incredible community of lifesavers here in Wales." If you want to learn more about donating blood, platelets or stem cells, you can do so by clicking here or calling 0800 252 266. Article continues below
North Wales Chronicle
14-06-2025
- Health
- North Wales Chronicle
Welsh father calls for blood donors after saving son's life
Seven-year-old Jasper Hodgson-Smith, from Swansea, was diagnosed with a rare and life-threatening blood disorder called Activated PI3K Delta Syndrome (APDS). His father, Matt, was found to be a perfect stem cell match, giving Jasper a second chance at life. Matt donating stem cells (Image: Welsh Blood Service) The family is now sharing their story during National Blood Donor Week, which runs from June 9 to 15, to encourage more people across Wales to donate blood and stem cells through the Welsh Blood Service. Sophie Hodgson-Smith, Jasper's mother, said: "From eight months old, Jasper exhibited numerous symptoms, including lethargy, persistent high temperatures, and a lack of appetite. "Due to the rarity of his blood disorder, it took a long time to identify his condition, which was thought to be chest infections, meaning he was regularly prescribed antibiotics and admitted to hospital around six to eight times a year." Matt with his son (Image: Welsh Blood Service) APDS is extremely rare, with Jasper believed to be the only child in Wales with the condition and one of just 35 patients in the UK. APDS affects the immune system, and for young patients, a stem cell transplant is often the only curative treatment. Jasper's care involved multiple blood and platelet transfusions, immunoglobulin replacement therapy, chemotherapy, and ultimately a stem cell transplant. Only one in four patients in the UK will find a family member who is a suitable match. Mr Hodgson-Smith said: "Blood disorders are as life-threatening as cancer and require just as much resilience. "Some people think donating stem cells may be painful or invasive. "For me, the process was simple. "I would do it again in a heartbeat if it meant saving someone's life." He donated his stem cells through peripheral blood stem cell transplantation, a procedure that collects stem cells from the bloodstream using a special machine. Jasper's mother said he remained positive throughout his treatment. She said: "Despite everything he's faced, Jasper has remained incredibly strong and full of life—always dancing, singing, and making people smile, even during the toughest days. "Once Jasper is feeling fit and well, we are looking forward to spending more time as a family and have lots of beach walks and adventures planned with our dog, Pip." The Hodgson-Smith family hopes their story will inspire more people across North Wales and beyond to consider donating blood or stem cells. The need for donors is ongoing, with more than 15,000 blood donations required annually in North Wales alone to support patients at hospitals including Ysbyty Glan Clwyd, Ysbyty Gwynedd and Ysbyty Wrecsam Maelor. Frank Murphy, who lives in Wirral but worked at HMP Berwyn near Wrexham, was recently recognised by the Welsh Blood Service for helping to potentially save more than 1,200 lives. Not only has he donated blood more than 40 times, but he also encouraged colleagues at HMP Berwyn to donate on more than 400 occasions. Mr Murphy said: "Giving and supporting others to give blood and to save lives has, in my eyes, always been a must and a duty, and encouraging others to donate is a great feeling." Appointments to donate are available across the region.
Rhyl Journal
14-06-2025
- Health
- Rhyl Journal
Welsh father calls for blood donors after saving son's life
Seven-year-old Jasper Hodgson-Smith, from Swansea, was diagnosed with a rare and life-threatening blood disorder called Activated PI3K Delta Syndrome (APDS). His father, Matt, was found to be a perfect stem cell match, giving Jasper a second chance at life. Matt donating stem cells (Image: Welsh Blood Service) The family is now sharing their story during National Blood Donor Week, which runs from June 9 to 15, to encourage more people across Wales to donate blood and stem cells through the Welsh Blood Service. Sophie Hodgson-Smith, Jasper's mother, said: "From eight months old, Jasper exhibited numerous symptoms, including lethargy, persistent high temperatures, and a lack of appetite. "Due to the rarity of his blood disorder, it took a long time to identify his condition, which was thought to be chest infections, meaning he was regularly prescribed antibiotics and admitted to hospital around six to eight times a year." Matt with his son (Image: Welsh Blood Service) APDS is extremely rare, with Jasper believed to be the only child in Wales with the condition and one of just 35 patients in the UK. APDS affects the immune system, and for young patients, a stem cell transplant is often the only curative treatment. Jasper's care involved multiple blood and platelet transfusions, immunoglobulin replacement therapy, chemotherapy, and ultimately a stem cell transplant. Only one in four patients in the UK will find a family member who is a suitable match. Mr Hodgson-Smith said: "Blood disorders are as life-threatening as cancer and require just as much resilience. "Some people think donating stem cells may be painful or invasive. "For me, the process was simple. "I would do it again in a heartbeat if it meant saving someone's life." He donated his stem cells through peripheral blood stem cell transplantation, a procedure that collects stem cells from the bloodstream using a special machine. Jasper's mother said he remained positive throughout his treatment. She said: "Despite everything he's faced, Jasper has remained incredibly strong and full of life—always dancing, singing, and making people smile, even during the toughest days. "Once Jasper is feeling fit and well, we are looking forward to spending more time as a family and have lots of beach walks and adventures planned with our dog, Pip." The Hodgson-Smith family hopes their story will inspire more people across North Wales and beyond to consider donating blood or stem cells. The need for donors is ongoing, with more than 15,000 blood donations required annually in North Wales alone to support patients at hospitals including Ysbyty Glan Clwyd, Ysbyty Gwynedd and Ysbyty Wrecsam Maelor. Frank Murphy, who lives in Wirral but worked at HMP Berwyn near Wrexham, was recently recognised by the Welsh Blood Service for helping to potentially save more than 1,200 lives. Not only has he donated blood more than 40 times, but he also encouraged colleagues at HMP Berwyn to donate on more than 400 occasions. Mr Murphy said: "Giving and supporting others to give blood and to save lives has, in my eyes, always been a must and a duty, and encouraging others to donate is a great feeling." Appointments to donate are available across the region.
Leader Live
13-06-2025
- Health
- Leader Live
Welsh father calls for blood donors after saving son's life
Seven-year-old Jasper Hodgson-Smith, from Swansea, was diagnosed with a rare and life-threatening blood disorder called Activated PI3K Delta Syndrome (APDS). His father, Matt, was found to be a perfect stem cell match, giving Jasper a second chance at life. Matt donating stem cells (Image: Welsh Blood Service) The family is now sharing their story during National Blood Donor Week, which runs from June 9 to 15, to encourage more people across Wales to donate blood and stem cells through the Welsh Blood Service. Sophie Hodgson-Smith, Jasper's mother, said: "From eight months old, Jasper exhibited numerous symptoms, including lethargy, persistent high temperatures, and a lack of appetite. "Due to the rarity of his blood disorder, it took a long time to identify his condition, which was thought to be chest infections, meaning he was regularly prescribed antibiotics and admitted to hospital around six to eight times a year." Matt with his son (Image: Welsh Blood Service) APDS is extremely rare, with Jasper believed to be the only child in Wales with the condition and one of just 35 patients in the UK. APDS affects the immune system, and for young patients, a stem cell transplant is often the only curative treatment. Jasper's care involved multiple blood and platelet transfusions, immunoglobulin replacement therapy, chemotherapy, and ultimately a stem cell transplant. Only one in four patients in the UK will find a family member who is a suitable match. READ MORE: Flintshire and Wrexham's best pubs and bars to take dad to on Father's Day Mr Hodgson-Smith said: "Blood disorders are as life-threatening as cancer and require just as much resilience. "Some people think donating stem cells may be painful or invasive. "For me, the process was simple. "I would do it again in a heartbeat if it meant saving someone's life." He donated his stem cells through peripheral blood stem cell transplantation, a procedure that collects stem cells from the bloodstream using a special machine. Jasper's mother said he remained positive throughout his treatment. She said: "Despite everything he's faced, Jasper has remained incredibly strong and full of life—always dancing, singing, and making people smile, even during the toughest days. "Once Jasper is feeling fit and well, we are looking forward to spending more time as a family and have lots of beach walks and adventures planned with our dog, Pip." The Hodgson-Smith family hopes their story will inspire more people across North Wales and beyond to consider donating blood or stem cells. The need for donors is ongoing, with more than 15,000 blood donations required annually in North Wales alone to support patients at hospitals including Ysbyty Glan Clwyd, Ysbyty Gwynedd and Ysbyty Wrecsam Maelor. Frank Murphy, who lives in Wirral but worked at HMP Berwyn near Wrexham, was recently recognised by the Welsh Blood Service for helping to potentially save more than 1,200 lives. Not only has he donated blood more than 40 times, but he also encouraged colleagues at HMP Berwyn to donate on more than 400 occasions. Mr Murphy said: "Giving and supporting others to give blood and to save lives has, in my eyes, always been a must and a duty, and encouraging others to donate is a great feeling." Appointments to donate are available in Mold on June 9, Bangor on June 10, and Llandudno on June 13, with further dates available across the region. To find out more about donating blood, platelets, or stem cells, visit or call 0800 252 266.
Yahoo
08-02-2025
- Health
- Yahoo
'Give my son the same support as cancer patients'
The mother of a seven-year-old with a life-threatening blood disorder says despite treatments being the same as cancer, they don't receive the same charity support. After spending the first five years of his life in and out of hospital, Jasper Hodgson-Smith was diagnosed with a rare primary immunodeficiency Activated PI3K Delta Syndrome (APDS) in August 2023. Jasper is the only known child in Wales to have APDS. Sophie Hodgson-Smith, 32, said some charities have refused the family help despite being uprooted to Newcastle from their home in Swansea for six months while Jasper undergoes a bone marrow transplant. Now, she is calling for blood disorders to be better supported and wants to de-bunk the myths around stem cell donation. Mum issues stem cell plea to save baby's life Donor from 'down the road' saved my life after global search 'Why I gave my kidney to a stranger' The family have had to relocate to Royal Victoria Infirmary for specialist care while Jasper undergoes a bone marrow transplant donated from his father, Matt Hodgson-Smith. Meanwhile, they still have to pay their mortgage for their home in Mumbles, Swansea, which Sophie's mum has moved into. Sophie said the situation had been very stressful, as she was let go from her job while her husband was granted sabbatical leave to support Jasper through his journey. She said the lack of awareness around blood disorders had left them isolated to certain financial support received from charities for those with more well known illnesses, such as cancer. "Blood cancer and blood disorders often require the same treatment journey, including finding a donor, enduring transfusions, and undergoing a transplant," said Sophie. Sophie said while cancer is no doubt absolutely awful to have to go through, "no child should be treated as less worthy because of the label attached to their illness". Jasper has received several transfusions from stem cell donors over the years, as well as rounds of chemotherapy to prepare his body for the transplant. Yet Sophie said the most help the family received was from The Masonic Hall charity, who assisted them with accommodation, while the charity Morgan's Army gifted a food voucher as a one-off, but said they usually help cancer patients. This extends into the hospital ward too, Sophie said, as children being treated with blood disorders are not enrolled on The Beads of Courage program, which helps children document their journey through treatment. "Blood disorders are just as life-threatening and require just as much resilience, yet these children and their families are often being left behind," she said. Co-founder of Beads of Courage, John Drummond, said it's the charity's "ultimate goal" that all children in the UK who are chronically ill or have life limiting conditions should have free access to the programme. He said he would expect a child being treated on an oncology ward to be enrolled into the programme, but sometimes new staff are "not trained on correct policies and procedures", partly down to lack of funding. "Currently we only have a sponsor for the oncology part of our programme and in order for us to support every child in the UK, we would need to acquire much more funding," he said. Welsh children's cancer charity Latch recently withdrew funding for some blood disorder patients because their conditions were not medically defined as cancer, so they "fell outside the charity's current scope", a spokesperson said. In a statement, the charity said: "Latch is a charity that supports children with cancer, including leukaemia (blood cancers), not benign blood disorders." It said it was reviewing its remit due to the complexity of some disorders but it has been necessary to pause support while it updates its governing documents. Jasper's diagnosis came after "years of hospital visits, misdiagnoses, and watching him suffer without answers", Sophie said. It was frequently misdiagnosed as chest infections, meaning he was prescribed two to three rounds of antibiotics every month and often admitted to hospital between six to eight times a year. She said Jasper's weak immune system was normalised, but she knew in her gut something was wrong. The calls follow a family plea for stem cell donations to save three month of Dolcie-Mae, who has also been diagnosed with a rare blood disorder. Sophie said people often assume they cannot join the register because the Anthony Nolan register is only open to 16 to 30 year-olds, but there are other registers available. DKMS accepts donors up to 40 years old, while the Welsh Bone Marrow Donor Registry accept donors up to the age of 55. She said that other options could save lives, yet so many people simply don't know they exist. Also known as a stem cell transplant, a bone marrow transplant is a medical procedure that replaces damaged blood cells with healthy ones. Conditions that stem cell transplants can be used to treat include: Severe aplastic anaemia (bone marrow failure) Leukaemia – a type of cancer affecting white blood cells Lymphoma – another type of cancer affecting white blood cells. Multiple myeloma – cancer affecting cells called plasma cells Certain blood, immune system and metabolic disorders – including sickle cell anaemia, thalassaemia, severe combined immunodeficiency (SCID) and Hurler syndrome Source: NHS website There is also a misconception that the procedure to donate stem cells is taken from the hip bone, Sophie said. But in fact 90% of procedures can be taken via a peripheral blood stem cell, which is much like giving blood, while 10% of bone marrow donations are taken directly from the hip bone, according to the NHS website. Jasper has received his transplant but there is "still a very long way to go," said Sophie, at three weeks into their six month long treatment. Boy, 11, meets life-saving stem cell donor I woke from a coma to find my baby had been born Heartbreak at 'family-destroying' disease of girl, 11
