We are grateful for the support of our family, friends and the community, and thankful that Charlie and Ellie have this opportunity to get a new immune system and hopefully be cured of the condition known as HLH.
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Charlie is an effervescent, comical, endearing little boy. We had no concerns about his growth or development until 9 months of age when Charlie became very ill. High fevers, rashes and generalised systemic inflammation landed him quickly in hospital, firstly at North East Health and then the Royal Children’s Hospital (RCH) in Melbourne.
Initially it was thought that Charlie had Kawasaki Disease, a condition with excellent prognosis when detected early and treated promptly. Following a stint of nearly two weeks in hospital and treatment with immunoglobulin, Charlie was given the all clear to come home. However, Charlie’s Kawasaki symptoms were atypical, and an element of uncertainty shrouded his diagnosis. Another possible diagnosis, HLH (haemophagocytic lymphohistiocytocis) was also considered but we were advised that it might only be as a temporary secondary condition. Unfortunately, in the absence of definitive tests, we would remain on tenterhooks waiting to see how Charlie’s immune system coped in future.
HLH is not common and therefore we did not have much information available to us. Inevitably we headed to ‘Dr Google’ and this is the gist of what we found:
- “Hemophagocytic Lymphohistiocytosis (HLH) is a rare disorder of the immune system primarily affecting young infants and children… estimated to occur in 1.2 cases per million.” http://www.histio.org/file/2014-awareness-month/HLH_FactSheet.pdf
- “Hemophagocytic lymphohistiocytosis (HLH) is an aggressive, life-threatening syndrome of excessive immune activation. Prompt initiation of treatment for HLH is essential for the survival of affected patients… (HLH) is a progressive syndrome of unchecked immune activation and tissue damage. If left untreated, patients with HLH survive for only a few months, due to progressive multi-organ failure.”(http://www.uptodate.com/contents/treatment-and-prognosis-of-hemophagocytic-lymphohistiocytosis 25/06/15).
Definitely not a condition you want to read about affecting anyone, let alone your own baby. Not a possible diagnosis you want to have hanging over you. We went from letting Charlie play in the garden to wiping every surface with an antibacterial – just in case.
After our stint at RCH in Melbourne, we returned home and tried to get our lives back into some kind of a routine. We still jumped at every mark or unusual symptom exhibited by Charlie, traumatised by our recent experiences. Routine follow up reviews for Kawasaki disease were performed.
All seemed to be going well until in February 2015, at 13 months of age, Charlie’s immune system reached once more for the stars. It’s possible that a routine combination live vaccine may have triggered his immune system to respond, overstimulated as it was. Within a few days Charlie was back in hospital and we did not get home this time until April, 7 weeks later. This included a stint in intensive care and a series of four general anaesthetics in four days. Many investigative tests were performed including bone marrow aspirates, lumbar punctures, MRIs, blood tests and lymph, gastrointestinal and skin biopsies. Charlie received transfusions of platelets, plasma, immunoglobulin and whole blood. Pulse steroid therapy was commenced. If the (catabolic) steroids didn’t work we were advised that chemotherapy was a possibility. We were reassured that ‘many very clever people’ were talking about Charlie.
Blood tests were flown to Brisbane, Adelaide and further afield to Finland and Sweden to rule out various rare conditions and to try to identify what was happening with Charlie’s immune system. We were also approved to be investigated further in a Murdoch Children’s Research Institute program. Charlie’s DNA was to undergo genome sequencing to help unlock the puzzle. Meanwhile, my husband, Tony, and I played tag team taking turns sleeping on the ward and having a night off staying at wonderful Ronald McDonald House. The hospital is 252km away from home, so when Charlie was discharged twice during this period, we were advised to stay nearby, which was just as well because it wasn’t long before he was readmitted. Whilst weaning him of his medications his immune system flared up. For a couple of weeks he was covered in unknown spots. Another week he struggled to sit upright, walk or stand (he’d already been walking at this point for about 3 months).
In April we were able to bring Charlie home, albeit still taking daily medications to keep his immune system in check. The initial Kawasaki diagnosis had been discounted and replaced with what the doctors described as “an undefined HLH process”. Our fears were confirmed. Following routine reviews and tests, the decision was made that Charlie should undergo a bone marrow transplant to give him a new immune system, and sooner rather than later if a suitable bone marrow/stem cell donor could be found. We were both relieved and horrified. A light at the end of the tunnel. Potentially a life free of his HLH diagnosis and gloomy prognosis; but a risky and lengthy procedure to get him there. I was reminded of the analogy of a caterpillar going into its cocoon only to emerge transformed, a butterfly. Charlie’s wings would be a new immune system – all thanks to many brilliant minds, a health system for which we are grateful and somewhere, out there, a hugely generous and anonymous donor. Oh, and let’s not forget Charlie’s cheerful, endearing and tenacious spirit! Even when Charlie temporarily lost his ability to walk, he managed to crawl to the door of his room in the ward and flirted with the doctors and nurses. I once said that the most infectious thing at the hospital was Charlie’s irresistible smile.
Now we are about to embark on a momentous and scary journey. At 18 months of age Charlie will soon be admitted to hospital to have a new central line inserted. Following this, he will be admitted to the isolation ward to receive medications to deplete his white cells (lymphocytes) over several weeks – to help reduce the risk of HLH immune flare-ups. He will then receive chemotherapy for a bit over a week. This is to prepare his immune system and his bones for the transplant. The donor cells will then be introduced via blood transfusion. After this it will be a waiting game, hopefully the transplant will work and his body will start creating new cells to strengthen his immune system. Potentially his blood type might change to that of the donor’s. Due to the risk of basically having no immune system, and all going well, Charlie will remain in isolation in hospital for between 6-8 weeks. This period will be followed by a further three months or so spent in some isolation accommodation (depending on availability) near the hospital.
Between juggling our small business, travelling to and from hospital and supporting Charlie – it will be a challenging time for our family. Ongoing unexpected costs such as medical, travel, food and accommodation, will stretch us considerably. Whilst many aspects of Charlie’s treatment are currently covered by our public health system, or subsidised, the costs associated with having to juggle a life in hospital with keeping everything going at home are a concern for us. The cost alone of 500km round trips between hospital and home potentially up to several times a week will quickly add up.
We are grateful for the support of our family, friends and the community, and thankful that Charlie has this opportunity to get a new immune system and hopefully be cured of the condition known as HLH.