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.