World Primary Immunodeficiency Week 22-29 April 2022
For World Primary Immunodeficiency Week (April 22 – 29), the parents of the first baby in the country to be diagnosed with Severe Combined Immunodeficiency (SCID) through a newborn heel prick trial, are sharing their story to raise awareness of the condition and highlight the importance of early diagnosis.
Jen and Dom Randle from Greater Manchester were shocked to discover that their two-week old son Charlie was suffering from the rare but life-threatening illness following the newborn screening test, which is currently being trialled in parts of the country.
SCID is a potentially fatal Primary Immunodeficiency (PID), where the body cannot fight off infections or viruses. The condition affects around one baby in 58,000 in the UK and even a common cold can kill. Without treatment, babies would tragically die within two years. His early diagnosis meant that Charlie was taken straight to the world-renowned Children’s Bone Marrow Transplant Unit – known as ‘The Bubble’ – based at the Great North Children’s Hospital (GNCH) in Newcastle, to begin treatment.
Charlie spent the first three months of his life hospitalised in a sterilised bubble to protect him from infections and he received a life-saving bone marrow transplant donated by his Dad, Dom, 33, under the care of the specialist team at GNCH. Charlie’s Mum, Jen, 30, said: “We relocated to Newcastle after Charlie’s diagnosis, and he had his bone marrow transplant in November. Although we had some rough patches through Charlie’s treatment particularly during chemotherapy, as well as being away from home and our families, getting the early diagnosis made a huge difference.
“Without it, our story would be very different. Charlie was infection-free at transplant, which has been a key factor in his recovery. He didn’t need to suffer lots of infections as a tiny baby as we knew about his condition at two-weeks-old, so we could close the doors and protect him from viruses until his transplant. I would never have known Charlie had such a serious condition as he looked perfectly healthy at birth.”
Now six months old, Charlie is back home with his parents and brother Alfie, three, and thriving. Jen continued: “Charlie is doing really well. He’s gained great weight since leaving hospital and is now at his target weight. He has suddenly got a huge appetite so he’s finishing bottles and he is always very excited when he sees his bowl of food.” She added that coming home was “scary” at first, particularly with COVID-19 numbers so high in January when they left Newcastle. “Charlie has caught two viruses since coming home – we quickly learnt that it was impossible to keep all viruses away with a three-year-old also at home. Thankfully, Charlie fought off both quickly, without needing hospital admission. It was a good test of his new immune system and one we needed as it allowed us to settle slightly, reassured that his body was able to fight things now.”
Both Jen and husband Dom, want to do everything they can to raise awareness of Primary Immunodeficiencies and the importance of access to newborn screening for every child. That’s why they are sharing their story for World Primary Immunodeficiency (PI) Week, which runs until April 29, with this year’s theme focusing on improving access to healthcare for the millions of people living with Primary Immunodeficiency worldwide.
She said: “I think awareness needs to be raised, so that people understand that these conditions exist, but are treatable, with the potential to improve outcomes if they are caught early. Also, the treatment of these conditions relies on people donating stem cells, blood and plasma, so awareness of this might help to make sure they are more readily available for all.”
Supporting the Bubble Foundation
Jen added: “We are so grateful for the care Charlie has received during the most testing time of our lives. The amazing doctors, and charity The Bubble Foundation, are leading research into treatments and from the moment we found out about Charlie’s condition, they offered fantastic support to our family. Thanks to support from family, friends and colleagues, they have raised £9,000 for the charity, which will go towards care for other families going through similar experiences and the vital research the charity funds, which is helping to save the lives of babies and young children born with serious immune disorders.
“From two-weeks-old, they have been in Charlie’s life. They taught us infection control from the beginning, so we knew how to care for him before and after transplant. They are extremely specialist in Charlie’s field and reassured us that he was in safe hands. Nothing is too much trouble, they are always a call away now, whenever we need anything.”
“The ward is immaculate. The team all understand the vital need for high levels of infection control. Everything is thought out to protect the children and keep them safe. I felt Charlie was safe and looked after every day.”
“The play team also supported the whole family, making sure we had time to spend time with our eldest when he was brought to Newcastle, which meant everything to us, as we were separated from him for several months. The ward was beautifully dressed over Christmas making it feel like a special place to be, even at the worst time.”
“The Bubble Foundation will always be a charity that we support as it helped to save our son’s life. When friends and family heard what Charlie was going through, everyone wanted to support the charity that was doing so much to help us.”
The Bubble Foundation Fundraising Manager, Gill Wheeldon, said: “We’re supporting World PI Week and hope to see the day where every single baby who comes through our door goes home to live a normal, healthy life, like Charlie, who it’s fantastic to see doing so well. “Over the 30 years since we were founded, we have been raising funds and awareness of Primary Immunodeficiencies, to improve treatments and outcomes for the children with these conditions. Mary and the team are leading incredible research which is recognised around the world and transforming success rates, so we need to keep the funds coming in – it is saving the lives of babies and children.”
The Newcastle upon Tyne NHS Foundation Trust is of the 400 worldwide primary immunodeficiency centres as part The Jeffrey Modell Foundation network and part of the campaigns for early diagnosis and raising awareness of ‘recurring infections’ which can be a sign for spotting underlying Primary Immunodeficiencies. For example, perhaps the most common problem is that patients with a PI disease have, is increased susceptibility to infection. PI patients have too many, and often recurrent, infections. They may have recurrent and repeated ear infections, pneumonia, bronchitis, sinusitis, or skin infections – the common theme is that they have more infections than they or their doctor believe is appropriate. To find out more about The Jeffery Modell Foundation, visit www.info4pi.org For more on World PI Week, see www.worldpiweek.org