The June 29, 1940 from scleroderma or systemic sclerosis the famous painter Paul Klee died. Precisely for this reason June 29 was chosen as the date for the World Scleroderma Dayestablished to raise awareness and increase knowledge about this disease, which is still often underestimated today. “Scleroderma is one systemic diseasethat is, it affects the […]
Tag: rare diseases
Bilateral macrostomy: what is it and what are the consequences of “permanent smile disease”
It is commonly referred to as the “permanent smile disease” but it is a rare congenital malformation. Let’s talk about the pathology from which it is affected Ayla Summer Mucha, the little girl born in Australia last December and whose images are now traveling around the world. The parents of the child, Cristina Vercher And […]
Rare Diseases, steps forward thanks to European diagnosis and treatment networks
It occurs on February 28 the World Rare Disease Dayor Rare Disease Day, established in 2008 to raise awareness of this type of pathology and for improve access to care for patients who suffer from it. According to the Orphanet Italia network, in ours village the rare sufferers are about 2 million, in 70% of […]
Rare diseases, families: “The law is an important first step”
Italy has one law on rare diseases. The single text «Provisions for the treatment of rare diseases and for the support of research and production of orphan drugs» was unanimously approved in the Senate in recent days. An important step by the institutions towards over two million people, in many cases children, who live with […]
La Pina: “Those who live with a rare genetic disease must not fight for integration”
It is estimated that in Italy theSpinal Muscular Atrophy (SMA), affects around 850 people, most of whom are under the age of 16. It is in fact a rare genetic disease characterized by the degeneration of motor neurons in the spinal cord and brain stem, which causes muscle weakness and atrophy. Diagnosed in the most […]