“For years, we helplessly watched as the successive, sometimes dramatic attacks on the brain, lymphatic system, lungs, and a whole range of other symptoms gradually undermined our daughter’s health, school life, and childhood,” testify Frédéric and Valentine, Marion’s parents.
“When doctors finally discovered that she carried a genetic mutation that severely disrupted her immune system, we were able to turn to the most skilled specialists, who fortunately we have here in Belgium.”
“Because this mutation had never been described before, the uncertainty was enormous: we were faced with an unnamed disease, without comparable cases or prognosis. A leap into the unknown. Gradually, it became clear that no treatment could manage the disease.”
Marion has now been hospitalized for more than a year for a complicated stem cell transplant, the last-resort treatment to completely replace a defective immune system.
And Prof. Dr. Pediatric hematologist-oncologist at UZ Leuven, @IsabelleMeyts confirms: “We have been monitoring Marion for several years for an extremely rare autoinflammatory disease. A disease that has only gradually revealed its many faces and risks. We finally reached a point where we had no choice but to opt for a hematopoietic stem cell transplant to give Marion a chance to live into adulthood.”
“A very rare disease means that, as a doctor, you have to look beyond the reimbursed, easily accessible tests and recognized medications. It means relying on research centers for more in-depth analysis. It also means you have to turn to a multidisciplinary approach, as all organs are affected. And in the case of immune diseases, it unfortunately also means there’s no infrastructure to support these patients within a convention, as is the case with other diseases. It’s a diagnostic and therapeutic odyssey, and in both fields, there’s still a vast gap in our knowledge.”
This moving testimony from Valentine Poot Baudier and Frédéric de Cooman, Marion’s parents, perfectly sums up the medical odyssey and the enormous challenges faced by families dealing with rare genetic diseases.
It is for these patients that GENeHOPE exists. Every progress counts in speeding up diagnosis and clearing the way for innovative treatments. Research is our best hope for better understanding these diseases and offering patients like Marion a real future.
