Diagnosis and treatment were challenging for us as a family
Oscar is a bit of an anomaly, because genetically he’s got CHARGE syndrome and he’s got a phenotype of Complete DiGeorge syndrome, where some of his symptoms share things in common.
We’re not sure what prompted the initial testing for the Complete Di George syndrome. Our immunologist specialist consultant in Cardiff was really, really good. She just said ‘Look, we’ll just test for everything’ and that’s when it was picked up. So, we’re not 100% sure whether it would have been picked up early if they hadn’t done such a broad range of testing. Diagnosis of this immunodeficiency might have happened later on perhaps if he kept getting sick from infections but he wasn’t out in the big wide world in contact with a lot of things. He was in quite a cocoon because he was in the hospital environment.
Getting the initial diagnosis of what was wrong with Oscar and what was going to be the treatment for his immunodeficiency was a relief, as we weren’t really sure if he was going to need a bone marrow transplant. But then we found out about having a thymus transplant. At that time thymus transplantation was being provided according to strict research guidance, which made us quite nervous to understand why this was being considered research, as it is the only known treatment for this condition. We were going into the unknown really.
Great Ormond Street Hospital were brilliant
So, once we found out how they were going to treat Oscar’s immunodeficiency, the specialist team at GOSH answered any questions we had and put us at ease. It was just a relief that somebody knew what was going on with Oscar, as back home, the doctors only knew a certain amount about these conditions because they are so rare. Being in GOSH made a massive difference because they had seen other children like this. In Wales, I don’t think they’d ever come across another child like Oscar at that point. It was just a relief getting the diagnosis and being able to move forward.
He was just a baby when he had his thymus transplant
In the early stages of a thymic transplant, you have to keep the same precautions of protecting your child against infection. This meant being in a specialist room where you walk into one part, you decontaminate and then it tells you when you can go into Oscar’s room. So that carried on for about another six months, but then we started seeing a lot of his immune cell numbers go up.
There were a few of the complications you get from a thymus transplant but overall, Oscar did really well because he was transplanted at the young age of 3-4 months old. So once his immune system began to recover, we could touch him and pick him up. He obviously had all of his other health complications, from CHARGE syndrome still going on, which was hard, but Oscar had an opportunity now to live because a lot of children don’t live past the age of two with Complete Di George, because of all the infections they are bound to pick up. Whereas, his life expectancy is greatly increased now that he’s got this thymus transplant.
Oscar handled the surgery brilliantly
It was good that Oscar was so young because he was so unaware of things as he was still a tiny baby. I think it would be a lot more difficult if he was an older child. He coped really well because he’d had operations before. It’s not a nice procedure but they were really good, they gave him all the pain relief he needed, he healed very well and he coped so well. I definitely wouldn’t have coped as well as he did. But kids bounce back.
We were relieved when we got the go ahead for the surgery
I think we were just relieved that the surgery went ahead because there’s so many things that can go wrong before. Children have to be given special treatment before to clear out all the immune cells in their body, that in itself can cause major issues. And then of course there was the issue of Oscar’s other medical needs and worrying that he’s wasn’t going to be strong enough to go through the procedure. Obviously, we were worried but we were actually relieved that it was happening, like it was finally happening.
Oscar is now a thriving four-year-old
Oscar is now 3 years post-transplant now and he’s doing really well and has just recently started school. That was a big step. If you had told us about Oscar going to school when all of this was happening, we’d have told you no because of the risk of exposure to germs. He still gets the odd infection here and there but nothing that’s abnormal, that’s just like any kid. But yes, he’s just enjoying a normal little life now, as much as Oscar can because of all his other health issues. He’s now had all of his immunisations now and that was a big milestone, because he wasn’t allowed any routine vaccinations for three years. All his immune cell numbers were looking good so that meant he could have all his vaccinations. That was big.
Oscar still has to have regular 3 monthly blood tests, which are discussed with the team in London. These are just to keep an eye on him and I suppose they’ll do that for the foreseeable future. He also sees the immunology team in Cardiff about every 6 months. So, that’s the ongoing routine for looking after Oscar and so far, he’s doing really well.
Our advice for other parents who are considering a thymus transplant for their child
Definitely try and speak to other parents or doctors and ask as many questions as you want, no question is silly because it is a hard time, and that support is vital.
I’d advise looking forward to the future. Thymus transplant has proven to be an effective method to help these children have a relatively normal life and to be able to do things like go to school and go out into the community and not have to worry about them picking up infections. Going through it will be hard, nobody wants to see their child have an operation, you’ve just got to think about the future benefit for the child.
Our top tips for other families
Connect with other parents who’ve been in the same scenario. I know there’s a good Facebook group. I think there’s a couple, one that’s mainly for the UK and there’s another which involves families from the USA as well, because, of course, thymus transplantation was first started at the Duke University Medical Center, in the USA. I found the Facebook groups really helpful because a lot of the parents ask questions on there like Is this normal? What should I prepare for? I found a lot of good information.
GOSH now have more information and made patient leaflets about thymic transplant since Oscar had his transplant. They’ve really got to grips with collating all the information so I would advise parents access that. That’s invaluable really.
Don’t expect an overnight change in the health of your child, it’s going to take a few months. All children recover differently. That was one thing that I found hard was that for some children you could see immune cell blood counts improving at three months and for other children, it could take a year. Knowing that and being prepared helps. Your child might be a little bit different; it might take longer; it might take less. I think that’s a good thing to remember that it’s not one size fits all.
Thanks so much to Bryony for sharing Oscar’s journey with us.