Rachel is mum to one year old Teddy, six-year-old Billy and eight-year-old Freddie. Both Teddy and his older brother Billy were born with CD40 ligand deficiency, which is a severe primary immunodeficiency caused by mutations in the CD40L gene. Affecting their immune systems, without a bone marrow transplant the condition is life limiting.
‘This can mean suffering frequent infections and viruses, like if he gets the flu or a cold, it lasts for ages and can really affect his chest. He is also susceptible to gastro bugs as well.’
Because Teddy displayed symptoms of the deficiency when he was born, doctors performed genetic testing to find out if he needed treatment. Teddy’s diagnosis was confirmed when he was around one month old, and he then began weekly infusions of immunoglobulin – a kind of artificial immune system – to prepare him for a bone marrow transplant.
Teddy had his transplant in August 2023 at 18 months old. Rachel described this period as a very stressful time. Remaining in hospital for three and a half months after his transplant, Rachel stayed by Teddy’s side, sleeping on a camp bed next to him. Due to Teddy’s compromised immune system, only two carers were allowed to be with Teddy while he was an inpatient. This meant friends and family were not able to visit Teddy and Rachel for over three months.
Rachel described how isolating this experience was:
‘I had a lot of virtual love. People sent things to me, and lots of messages but it is really hard because you are completely isolated in there and I was completely on my own really for most of it.’
When Teddy was allowed to leave the hospital ward, he then spent a few weeks at the half-way house before returning home to his family. Rachel explained that although Teddy is doing a lot better in himself, the stress of the past few months has begun to hit her.
‘Now we are back at home and things have started to die down, that’s when it really hits you. Although he is quite well in himself, Teddy still suffers with viruses and has a nasal gastric tube for feeding and fluids and medicines. The virus is an ongoing situation, there were times when we would go through an entire pack of nappies a day – it was that bad. That’s still an ongoing situation now. He’s not got an immune system so he just can’t get rid of it’.
Despite the challenges Teddy and his family are facing, Rachel remains positive that Teddy will be able to live a normal life once he has fully recovered:
‘Once he’s recovered from his transplant, he will basically be able to live a normal life, I’ll be able to take him swimming, go to nursery, and have his immunisation and I’ll feel like he’s protected naturally from bugs and all that kind of thing rather than having to isolate him away from everything.’
‘Even tap water, he would never have been able to drink tap water without his transplant because of the potential bugs in the water. For his older brother, who had the same deficiency, life is completely normal for him, so we just need to get out this bit we’re in now.’
Rachel had previously received support from Rainbow Trust when her older son, Billy, was in hospital with the same condition. Knowing that the support was available, Rachel attended a coffee morning organised by Rainbow Trust’s North East Team, and Family Support Worker Emma, began supporting Teddy and his family shortly after.
Emma spent a few hours a week with Teddy while he was in hospital, giving Rachel a chance to have a break and catch up on everyday tasks.
‘Emma was an absolute legend; I don’t know how I would have managed without her. Especially after the hospital when we were in the halfway house, she would stay with Teddy so I could just nip out to the shops. Because otherwise you’re just pretty much locked in a room. Those breaks are so important.’
Emma has also provided emotional support for Rachel throughout Teddy’s treatment and recovery.
‘Emma saw me cry many a time. When my dad was ill, she was a shoulder to cry on.’
‘Honestly, I just so look forward to when Emma comes. We call it a ‘Rainbow Day.’ I knew I’d be able to get out of the ward and get away and just do normal things like go to a shop! If we hadn’t had Emma’s support, I’d look even worse than I already do!’
Rachel explained how she felt she was always leaving Teddy in safe hands when Emma would spend time with him, and how her experience was reassuring when leaving him for a break.
‘Emma had had experience on the bone marrow transplant ward as a play therapist previously, so I felt really safe leaving Teddy with her. She understood and she knew all the staff. I never felt my child was unsafe, and that was really important for me.’
Rainbow Trust Children’s Charity provides crucial support for families just like Teddy’s. But more families need our support. Please consider donating today to help us support more families like Teddy’s.