A disease without a name is hard for those around you to grasp.Valentine, Marion's mum
For Marion and her family, the past eight years have felt like an emotional rollercoaster. Their journey began in October 2017, when Marion suddenly fell ill and was diagnosed with "Opsoclonus Myoclonus Ataxia Syndrome," a rare neurological autoimmune disease. After two years without fully recovering, a second diagnosis followed: primary immunodeficiency (PID), caused by a genetic mutation affecting her immune system’s functioning.
Alone in the world
Marion's mother, Valentine, explains: "Many primary immunodeficiencies are now well-known, but Marion still seems to be the only person in the world with this specific mutation. It was a new form of PID, meaning we had to discover the symptoms and didn’t know the exact risks."
In 2021, Marion was referred to UZ Leuven, where she was treated by Prof. Dr. Isabelle Meyts and Prof. Dr. Giorgia Bucciol, specialists in paediatric immunology. This marked the start of several years focused entirely on hospital visits and protecting Marion from viruses and bacteria. Despite the treatments offered, other alarming symptoms continued to appear, until it became clear that no medication could control her immune system's dysfunction. Marion could not survive with this disease.
It was therefore suggested that she receive a completely new immune system through a donation and stem cell transplant. On 15 January 2024, Marion was admitted to a sterile hospital room, and the transplant took place fifteen days later. Due to complications and the placement of a stoma, Marion has remained hospitalised ever since, until her bowel has sufficiently healed.
Breaking isolation
"What gives us hope every single day is the immense trust we have in Marion’s doctors and their decisions," says Valentine. "We have always felt safe and incredibly supported at every moment. We could never have endured the past year in hospital without the nurses, assistants, and all the logistical staff from the oncology and gastroenterology wards, the hospital school, the physiotherapists, and occupational therapists. They stand by our side every day, through both the good times and the bad."
"For us, it’s important to share our story today to help break the isolation faced by people with rare diseases. First and foremost, social isolation, because a disease without a name is hard for others to understand. For a long time, Marion was seen as a small, fragile girl who wasn’t often around. Then there’s the medical and institutional isolation. It’s a constant struggle to get the same support and guidance as other patients. Psychological aftercare, information for general practitioners, and the sharing of specialised knowledge depend entirely on the goodwill of specialists and patients who voluntarily dedicate themselves to this cause."