Observed annually on the 28th of February, or in leaps years, on the 29th (the rarest day of the year), Rare Disease Day takes place worldwide to raise awareness among policymakers and the public about rare diseases and their impact on patients' lives.
Despite the diversity of symptoms and consequences of rare diseases, most rare disease patients face similar problems. These include lack of access to proper diagnosis, delayed diagnosis, lack of quality information and often scientific knowledge about the condition, difficult social circumstances, lack of quality medical care, and difficulty accessing treatment and care.
Patients treated at Almazov Centre include those diagnosed with rare diseases such as hypophosphatasia (childhood form), mucopolysaccharidosis, in particular Hunter syndrome, sleep apnea syndrome (Ondine's curse), Duchenne/Becker myotonia, TK2-related mitochondrial myopathy, propionic acidemia, Sotos syndrome, Crigler-Najjar syndrome, congenital adrenal hyperplasia (CAH), DiGeorge syndrome, spinal muscular atrophy type 1 and others.
The approach to orphan patients developed by the doctors at Almazov Centre includes an obligatory assessment of the peculiarities of the disease, the personalized development of a treatment and rehabilitation programme appropriate to the given diagnosis, as well as psychological support.