Latest news with #ImmunodeficiencyUK
Yahoo
27-05-2025
- General
- Yahoo
'Only 60 people in the UK have our daughter's genetic condition'
The family of a three-year-old girl with one of the UK's rarest genetic conditions are faced with the prospect of relocating to another city in order to get treatment for her. Autumn, who lives near York, has Hyper-IgE syndrome, which affects her immune system and requires daily antibiotics. The toddler must spend six months at the Great North Children's Hospital in Newcastle from October, to receive a bone marrow transplant. She has been told that Father Christmas will deliver her presents in hospital, but knows that after the operation, she will no longer have to take daily medication. Doctors first noticed something was wrong when Autumn was born, as she had raised levels of white blood cells, indicating an infection. However, no infection could be found, and over the next 18 months, the family were "in and out of hospital with various different things", her father Matt says. It was only during a visit to Harrogate District Hospital when a consultant, Dr Alexandra Hardisty, mentioned she had previously seen a case of Hyperimmunoglobulin E (Hyper-IgE) syndrome. "It's needle in a haystack stuff - only 60 people in the UK have been diagnosed with this," Matt adds. Genetic testing confirmed the suspicions, but also found neither of Autumn's parents carried the gene. "It's a genetic mutation," her mother, Louise, explains. "It's like a spelling mistake in her genes and it just means that her immune system – although it produces white blood cells so they can go fight the infection - they don't actually know where they're going. "So they just run around her body and they might stumble upon it, but she needs extra help to get rid of infections." According to the charity Immunodeficiency UK, common features are "severe eczema, increased susceptibility to infections and markedly raised levels of immunoglobulin E (IgE)". Autumn's treatment will involve eight days of chemotherapy to destroy existing cells, before they are replaced through a bone marrow transplant from a donor in Germany. After the eight days she will have "no immune system whatsoever", Matt says, meaning there are strict rules to control any infection risk. Autumn will spend three months in an isolation room with a carefully-controlled oxygen level, with only one of her parents allowed to sleep there at a time. Every time they enter, they will need to scrub down and discard any outdoor coats or clothes. Autumn's pyjamas and teddy, Mrs Pink Bunny, will have to be washed every morning, she will use a new toothbrush every day, and can only eat food provided by the hospital. "There's a period of time when there's a line in the room and she's not even allowed over the line in the room," Matt adds. "The hospital say that they expect her to be a bit more resilient than we would even be, because of her age." Meanwhile, they will "press pause" on family life, Louise says, as she prepares to temporarily close her yoga and personal training business. The hospital provides accommodation for whichever parent is not sleeping on the ward, but she says they will be "very much passing ships". The family has already visited the team of medics in Newcastle and "completed the hospital", Matt says. After visits to "dentistry, CT scans, X rays, the play team, consultants, research teams, professors", he says all three family members had a blood test. Autumn says she went first to show her parents how "easy" it was: "I got a sticker - I was very brave." Louise says: "You think, 'how are we going to do this?', but you just do, because it's going to prolong her life and she'll come out of this process with a completely new immune system." Matt adds: "We had moments when we're like: 'Remember when you were a kid and you'd see those families on GMTV with poorly children trying to go to Disney?' We're now that family. That's now us." They have received support from a charity, helping families of children receiving stem cell transplants at the hospital in Newcastle. The Bubble Foundation funds research and toys for the ward, as well as providing advice and reducing the financial burden for families. "You want to be able to concentrate on the matter in hand," Matt says. While he is able to continue working remotely during the move, he knows some others "lose their jobs because companies can't afford to keep paying them, so the Bubble Foundation help with a lot of that". Before the treatment takes place in October, Louise and Matt are completing a number of fundraising challenges, including a fell run and triathlon event. They are also inviting others to take part in charity days at two gyms, in York and Boroughbridge. "The objective is to raise awareness and the driver is a bit of a coping mechanism and distraction," Matt says. Louise jokes: "I think going into hospital in Newcastle for six months is a challenge enough, but I got signed up for it, so let's do it!" Listen to highlights from North Yorkshire on BBC Sounds, catch up with the latest episode of Look North. Boy, 5, saved by stem cell transplant Woman appeals for stem cell donor to save her life 'It was so easy to give people more years of life' Immunodeficiency UK The Bubble Foundation
BBC News
06-03-2025
- Health
- BBC News
First NHS patients receive plasma from UK donors in 25 years
NHS patients are now receiving lifesaving medicines made from the blood plasma of UK donors for the first time in 25 years after a long-standing ban was blood donors are playing a part in the "landmark moment", which will reduce the UK's reliance on imported Hessey from Bicester said it had saved the life of her daughter Bella who has a rare heart Susan Walsh, CEO of Immunodeficiency UK, said they "urge" people in the county to try blood donation. The lifesaving medicines, most important of which is immunoglobulin, can only be made from human blood. Plasma makes up 55% of it and contains antibodies which strengthen or stabilise the immune antibodies are separated out and made into medicines which treat people with life limiting illnesses such as immune NHS Blood and Transplant (NHSBT), which provides England-wide blood, plasma and platelet donation service and organ donation service for the UK, said that across Oxfordshire, hundreds of people receive immunoglobulin each year. It added that over the past three years, local blood donors had supplied about "5,000 litres of plasma, enough to make around 2,200 bottles of immunoglobulin, which is enough to save or improve around 60 lives a year".NHSBT said the new supply would "bolster supplies to the NHS", which is important in the face of the global shortage of plasma medicines. Sir Stephen Powis, national medical director NHS England, said the "landmark moment" ensured patients relying on crucial plasma-derived medicines "will always have access to the treatment they need".The UK banned the use of domestically collected plasma in 1998, following concerns over a potential increase of recipients getting Creutzfeldt-Jakob ban was lifted in February 2021. 'Positive difference' The first patient to be given UK-sourced plasma was Jill Jones, who received the medicine at the John Radcliffe Hospital in was diagnosed with Non-Hodgkin lymphoma, a type of blood cancer, 20 years ago and receives treatment every three weeks."Transfusions have been life-changing for me in keeping me well," Ms Jones said."Before I started on them, I was regularly in hospital with infections - which just doesn't happen now. Ms Hessey, 28, said her daughter had been diagnosed for Kawasaki disease as a potentially fatal condition, where the blood vessels around the heart can be damaged, includes symptoms such as a whole-body rash, red eyes and a high received immunoglobulin, the effect of which was "instant"."Straight away, her colour came back to normal. By the next morning, she was eating and her fever had completely gone," Ms Hessey said."It saved her life. We were very lucky that we had such amazing doctors at the JR. "It's a relief to know we're now making it from local blood donations too."Donation can also be made at three specialist sites in Birmingham, London and Reading. You can follow BBC Oxfordshire on Facebook, X (Twitter), or Instagram.
