Brooklyn was diagnosed with the rare primary immunodeficiency CD40 ligand deficiency (also known as X-linked hyper IgM syndrome) at just a few months old. He received a life-saving stem cell transplant at Great North Children’s Hospital in Newcastle to treat his condition when he was 15 months old. Here, his parents, Natassia and Matthew, share the story of Brooklyn’s diagnosis, treatment and progress, and their tips for other families affected by a rare primary immunodeficiency.
The first few months of Brooklyn’s life were filled with uncertainty and fear
Dealing with Brooklyn’s health condition was incredibly challenging initially. What we thought was a simple cold at five months old turned into weeks of persistent coughing, weight loss and several hospitalisations. Our GP had diagnosed a viral infection and advised us to go to A&E if things got worse. Over the course of the next few weeks, Brooklyn deteriorated, and he ended up on high flow oxygen and a cocktail of antibiotics, but still he wasn’t showing any signs of real improvement. As new parents, we were quite naive about anything medical, and it was difficult to see our baby deteriorate despite various treatments.
In hospital, blood tests revealed that Brooklyn’s immunoglobulin levels were very low, so he was started on stronger antibiotics, antivirals, steroids and immunoglobulin replacement therapy. Genetic testing then confirmed the diagnosis of CD40 ligand deficiency.
Coping with Brooklyn’s diagnosis
Getting the initial diagnosis was a relief in some ways, as we finally knew what was wrong, but it also opened up a world of uncertainty.
It was a tough time for us all. No one expects after you have a baby that anything could be wrong or that the child will need extensive hospital stays. The fact that Brooklyn was diagnosed with such a rare condition made it even more isolating; there was nobody close by who understood our situation.
We were told not to Google things in terms of life expectancy and complications, but we found great support and information through Immunodeficiency UK and the Hyper IgM Foundation support network. These organisations gave us a wealth of information and even helped when it came to explaining to family what it all meant. They helped us to contact other families who faced the same diagnosis.
As a parent of a child with a severe rare immunodeficiency, it’s a completely different world that you are trying to navigate. Simple infections like the common cold can mean a hospital stay and being put on oxygen. You spend most of your time trying to keep your child as safe as possible and avoiding any unnecessary infections, risk assessing whether something is safe for them to do or a place is safe for them to be. It’s scary and a big part of the reason why we made the decision to proceed with a stem cell transplant for Brooklyn.
Deciding on a stem cell transplant at Great North Children’s Hospital in Newcastle
Once we found out that Brooklyn would need a stem cell transplant, the specialist team at the Great North Children’s Hospital answered all our questions and put us at ease. They were brilliant. It was a relief to be in a place where the doctors had experience with children like Brooklyn, as back home his condition was so rare that local doctors had limited knowledge.
Brooklyn was just 15 months old when he had his stem cell transplant
Despite the challenges, Brooklyn coped remarkably well with the transplant. He needed several blood and platelet transfusions, and there were some complications with his kidneys and blood pressure, but overall, he showed incredible resilience. We spent almost four months on the ward post-transplant before finally being discharged. You can read more about Brooklyn’s transplant journey here.
Brooklyn is now a thriving toddler
It is almost a year since Brooklyn’s transplant and his life is very different now. While he’s still on some medications and has regular check-ups, he can now do all the ‘normal’ things that he missed out on before. He can cuddle his grandparents, go swimming and interact with others – things that can be easily taken for granted but which we cherish deeply.
Our advice for other parents facing a similar diagnosis or considering a stem cell transplant
It’s not an easy decision to put your child through a transplant, but for us, the decision not to transplant presented more risks. We wanted to give Brooklyn the best chance of living a healthy, fulfilling life. Every child’s transplant journey is different, and it can be difficult to watch your child go through the procedure, but we believe it was the right choice for Brooklyn’s future.
Our top tips for other families
- Connect with other parents who’ve been through similar experiences. Support groups and online communities can be invaluable sources of information and emotional support.
- Don’t be afraid to ask questions. No question is silly, and getting all the information you need is crucial during this challenging time.
- Look towards the future. The transplant process is tough, but the potential for a better quality of life makes it worthwhile.
- Be prepared for a gradual recovery after the transplant. Don’t expect overnight changes in your child’s health. Every child’s recovery is different, and it may take months to see significant improvements.
- Take advantage of resources provided by hospitals and support organisations, such as Immunodeficiency UK. They often have valuable information tailored to your child’s specific condition.
Thanks so much to Natassia and Matthew for sharing their journey with us.
Posted October 2024
