Together, for RBCK1 gene mutation research

My Perfect Mistake was born from the story of a sweet little boy, full of love for life. He had just turned 3 years old when his parents discovered that he had an extremely rare genetic mutation. The first years of life of this little child are punctuated by a succession of medical visits and numerous hospitalisations.
After extensive genetic analyses, the little boy’s family received the saddest news: he was diagnosed with a mutation of the RBCK1 gene that leads to the development in childhood of an ultra-rare disease called polyglucosan body myopathy type 1.

A disease that leaves little room for hope and leads to serious limb impairment, dilated cardiomyopathy necessitating a heart transplant and, in the worst cases, severe damage of the immune system leading to death in childhood.

This sweet child needs a support network and the love and tenacity that any parent would deploy to save their child, because  He could be the son, grandson, brother of any of us. Only a cohesive network can help him fight to find other cases and other families like his in the world.
Only people’s generosity can help him by supporting research.
That genetic defect cannot and must not overcome his wonderful smile and his pure soul, who deserves a joyful and healthy future, just like any other child on this planet.

Help us find a cure.