Community AA Voices - personal stories All personal stories A dad's tale: What it's like when your one year old son is diagnosed with an ultra rare disease When we were first told that Max had aplastic anaemia, my initial feeling was relief. Relief that we didn't hear the word "Cancer" - in particular leukaemia. All the tests had been pointing towards that, and Leukaemia is the word that kept getting dropped into conversation prior to the bone marrow biopsy. The doctor & nurse who broke the news to us were fantastic - when they told us it was aplastic anaemia they also made it clear the severity of the condition, what the condition actually is, the next step & treatments available. Obviously myself and my partner, Rachel, had already had accepted it was leukaemia - and were readying ourselves to fight that. Getting the diagnoses of aplastic anaemia knocked us back, simply because we had never heard of it. Even when the Doctor told us what it was, we still had to take ourselves away for some fresh air and do our own research into the condition, in a less clinical manner. Diagnosis and treatment Max's symptoms began to show early September 2020, but we doubted anything was wrong. At this time he was starting to crawl and pull himself up, often resulting in him falling over, which would obviously cause bruises. He was developing bruises very quickly, and in very strange places too - such at the top of his ear! As soon as he was taking a tumble and hitting a part of his body such as his hand he was developing a bruise near on immediately after. Eventually, Max was so covered in bruises we were actually being careful about what photos we were putting of him on our social media accounts as we were concerned about what people might think. We eventually bit the bullet and took Max to our local A&E, as it looked like he was developing a rash on his stomach and legs, so our first worry obviously was meningitis (it turned out later that this rash was a platelet rash.) Max's blood counts showed he had a grand total of THREE platelets (seventy five is deemed normal in a child his age). He was then diagnosed with a condition called Immune Thrombocytopenic purpura, or ITP for short. The doctors' first idea was to watch and wait to see what happened with his platelet count, doing bloods once a week, before they decided to intervene. This lased only two more weeks, during which his count dropped from three to two... and then down to one. Max became very poorly and eventually we decided to take him to the RVI in Newcastle Upon Tyne on the 25th September. Within a week he had a central line fitted, a bone marrow biopsy, blood and platelets transfusions, a diagnoses and a plan going forward. A real first class performance from a world class hospital, in my opinion. Going forward from here we, alongside our consultant Dr Su Han Lum, decided the best option was to go down the transplant route. Because Max does not have a sibling, the best option for us was to search the register for a match, but they had also took samples of blood from both me and Rachel just in the unlikely case that one of us were a match for our son. A month had passed with not much to report apart from visiting the day clinic twice a week for transfusions, and then we got the AMAZING news that Max's donor had been found, AND IT WAS HIS MOTHER! This was welcome, and amazing news as this is very very rare. From then the ball REALLY got moving, and Max and Rachel underwent tests, x-rays etc to make sure everything was going to be good, which it was and Max was admitted onto the transplant ward on the 6th January 2021 which is where we currently find ourselves as I type this. Max has had his transplant now, and now in recovery while we watch and wait to see if his levels improve, the early signs are encouraging! Being Super Rare Receiving a diagnosis of a serious rare disease is difficult. It's very hard to explain to someone that has never heard of the condition. But Rachel and I didn't have a clue what aplastic anaemia was either, until it affected our lives. I think the best course of action is to educate people on the condition when they ask what it is, and make them aware of the best course of treatment which is the transplant and make sure you make them aware the importance of being on the stem cell donor register! I would really like people to know just how serious aplastic anaemia is. Although it's not classed as cancer, it still falls under the cancer umbrella because of the way it's treated. If it's left unmanaged the consequences could be life threatening. But most importantly I feel people have an outdated view of what a bone marrow transplant actually is, and how its done. I know both myself and Rachel did, we had the image of someone drilling into parts of your bone to extract the cells but that's not how its done these days. If people knew what such a small act of kindness could do for one family, I truly believe everyone would register, Max's mammy has quite literally saved Max's life by being his donor, and so many more could be! The most difficult part for us as parents was the wait between the diagnoses and finding a donor. We were just constantly hoping that we'd find a donor and worrying that we wouldn't, and of course thinking about the "worst case scenario" and having to prepare for that in the back of our heads. It's an incredibly tough journey to go through and there is no doubt they will be lots of tears along the way but you've got to be there for the child, every step of the way. I'd also say you should be honest with your employer about what your family is facing, because they can be very understanding. I think people should donate and support The Aplastic Anaemia Trust, because it's important to have an organisation that's a voice for the families of those with children who suffer from aplastic anaemia. Without it you wouldn't see much in the mainstream media, although I do feel that has improved in the past couple of months with the campaigns such as Evie needs a hero, Love for Libby and the odd bit work I've done too. I found it tough to find any information about aplastic anaemia in children, especially as young as Max, and the only place I found that information was via The Aplastic Anaemia Trust and The Great Ormond Street hospital website. The Aplastic Anaemia Trust Facebook support group has helped us the most, especially in the early stages of the diagnosis. Even when we were not really posting in the group ourselves, but searching the group for answers in terms of treatment. The MarrowKidz booklets helped us too, even though they weren't intended for our age group, as a lot of questions we wanted answers for were in the books, and the information was much simpler and easier to understand - even for us! New MarrowKidz resources for children under five are currently in development by The AAT team, and will be available soon! Your donations can help us provide resources like this and support families like Connor's. You can make a donation to our Super Rare campaign to celebrate Rare Disease Day, here. Hi there, I'm Connor Gardner, dad to Max, sharing our family's story from a dad's perspective. Read more from Connor Read more AA voices AA voices AA voices is a collection of blogs in which people affected by aplastic anaemia share the stories they feel are important, in their own words. If you would like to tell your story here, please get in touch with Ellie, our Comms and Fundraising Manager, by emailing [email protected].