This is Mael, a four and a half year old Swiss boy, affected by the ultra rare and fatal storage disease, Niemann Pick Type C (NPC). Mael is a very happy and wonderful boy and does not know about his uncertain and sad future. NPC will slowly take away everything like walking, talking, feeding himself before eventually killing him. But Mael shows all of us daily that the most important thing is to live now and the we should enjoy every moment that we have with him.
We still hope for a cure and are thankful that there are people and doctors who really care about children like Mael and want to find a cure. We still believe in the miracle!
Niemann-Pick Disease is one of a group of lysosomal storage diseases that affect metabolism and that are caused by genetic mutations. The three most commonly recognized forms are Niemann-Pick Types A and B (ASMD or Acid Sphingomyelinase Deficiency) and Niemann-Pick Disease Type C (NPC).