30 million Europeans affected by rare diseases

In the quiet outskirts of Bucharest, Romania, resides Victor, an eight-year-old boy with an extraordinary story. Born with developmental delays, it quickly became apparent to Victor's parents that their son's growth was not progressing as expected. Their journey, spanning three years and six countries, eventually led them to a diagnosis - a rare condition known as Coffin-Lowry Syndrome.

"It was obvious that something was not developing properly," recalls Iuliana Dumitriu, Victor's mother, who also founded the non-profit organization, Asociatia Sindromul Coffin-Lowry. The syndrome results from a minute mutation in one of Victor's genes, causing severe psychomotor delays. Although Victor is cognitively eight years old, he is mentally and physically comparable to a 2-3-year-old child, a delay projected to persist throughout his life.

Victor's routine includes swimming and speech & kinesiotherapy, enhancing his quality of life as there is currently no established treatment for his condition. "He would need maybe a medicine to better make his neurons communicate between each other, and also with the nerves. But that has not been researched," states Iuliana.

Victor is just one of many children suffering from a rare disease. Among the more than 6,000 rare diseases identified, the European Union has approved treatments for only 300, a mere 5 per cent. These treatments are often costly and scarcely available.

The hospital where Victor first received care manages nearly a thousand rare disease sufferers annually. Diagnosis and treatment for these diseases are likened to a complex puzzle, often involving numerous specialists, common blood tests, genetic tests, and more. This time-consuming process demands swift answers, leaving many