Marco’s ALPS-U diagnosis

My name is Asher. I'm mum to seven-year-old Marco, who has autoimmune lymphoproliferative syndrome (ALPS-U syndrome). Marco has shown amazing strength and courage these last two years, and I'd like to share his story with you.

Marco was always a healthy child, right up until the age of five. He'd had common childhood illnesses, but nothing of concern. Then, in October 2023, we noticed a strange pinprick rash and bruises on his body. We took him straight to our local A&E, where he was diagnosed with immune thrombocytopenic purpura (ITP), an autoimmune blood disorder that causes a significant reduction in the number of platelets in the blood. We were told that Marco had ITP because he'd caught a virus, and that the condition was normally a one-off in children.

Marco recovered fairly quickly, and his blood test results were back to normal within three weeks. However, as parents, we were terrified to learn that he'd had this rare blood disorder.

We were told there was nothing to be worried about

Fast-forward to December 2024, when Marco became yellow and severely fatigued. We took him to our local A&E, where doctors said he probably had iron deficiency anaemia. We were told to book a GP appointment and that there was nothing to worry about.

We managed to see the GP five days later. In that time, Marco had got worse; he was paler. One look at him and our GP told us to take Marco to A&E immediately. It was there that we were told Marco had developed a second blood disorder called autoimmune haemolytic anaemia (AIHA). This is a rare condition that happens when your immune system attacks red blood cells by mistake. Marco had a life-saving blood transfusion the next day, followed by treatment with intravenous immunoglobulin (IVIG). I had never been so frightened to see him like that. I knew this was serious, but we didn't know what was wrong with him, and neither did the doctors.

Marco spent a week in hospital recovering, and then we were sent to see the haematology team at Leeds Children's Hospital. They said they would monitor Marco every two weeks while he was on steroids to stop his body from attacking his own blood. Marco recovered slowly and went back to school, so the haematology consultants thought the AIHA was another one-off. However, at his bi-weekly blood test at the end of May, his red blood cells had crashed, his AIHA had returned and his white blood cells were now affected. He was diagnosed with a third blood disorder called neutropenia (a low white blood cell count).

Multiple hospital admissions and a referral to immunology

Throughout June and July 2025, Marco had four blood transfusions and four admissions to Leeds Children's Hospital. His haematology team were confused as to why he had all these autoimmune blood diseases and why they couldn't stabilise Marco's health. He was showing signs of leukaemia, but after a clear bone marrow biopsy, cancer was ruled out.

During Marco's last hospital admission of July 2025, he had another blood transfusion, further IVIG and was put back on steroids. It was at this moment that his medical team reached out to the Newcastle paediatric immunology department, as they suspected Marco had a disease of immune dysregulation.

Marco had tests that were sent to Great Ormond Street Hospital for analysis, and he was finally put on Sirolimus – a powerful immunosuppressant that would stop his immune system from attacking itself. It was then that a wonderful consultant at Newcastle finally diagnosed Marco with ALPS-U syndrome, a rare autoimmune primary immunodeficiency (PID). 

All I felt was relief. After nearly two years of uncertainty, we finally had answers. The Sirolimus began to work, and Marco has now had five months of stable blood results.

Marco's challenges and his response

For two years, Marco had lots of time off school and multiple transfusions, blood tests and hospital stays. To go from being a healthy five-year-old to a seven-year-old with a rare disease was a huge step. Throughout this, though, he has shown courage and always had a smile on his face. When he returned to school in September 2025, after five months off, he never complained; he got right back into it. Marco has had to face things most adults have not had to face and has confronted his fear of needles head-on. He is fully aware of his disease and embraces his differences while living life to the full.

Marco recently made this lantern at his school's lantern land. He wanted to make a lantern to represent his rare PID. We are so proud to spread awareness about immunodeficiencies and how children with PID are among the bravest children around.