Together, for RBCK1 gene mutation research

United against myopathy by polyglycosan bodies. From the story of Alberto was born "My Perfect Mistake", to help children and families affected by these diseases and give them a new vision of the future.

Alberto Maria is 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 3 years of Alberto’s life are punctuated by a succession of medical visits and numerous hospitalisations due to recurring inflammatory fevers and post febrile neurological symptoms.
On 31 December 2021, after extensive genetic analyses, the little boy’s family received the saddest news: Alberto Maria 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.

Alberto needs asupport network and the love and tenacity that any parent would deploy to save their child, because Alberto 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 theworld.
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 for Alberto Maria.

« We dream of a good life for all the children affected by rare diseases »
Elena, Alberto Maria's mum