29th of February: International Rare Disease Day

Published by ICSEB at 29 February, 2024

Rare diseases, despite their name, affect a surprisingly large number of people globally. However, one of the characteristics that makes them “rare” is that their cause is unknown.

In medicine, it is considered that most of rare diseases have a genetic origin, meaning they arise from pregnancy or birth, even if symptoms do not appear until later. Some may also result from combinations of genetic and environmental factors. An early diagnosis is crucial, as a delay can lead to inappropriate treatments or additional complications. However, due to their rarity, they are not studied or understood, and the path to a correct diagnosis and appropriate therapies can be slow and lengthy for many patients and their families.

The Syndrome of Arnold Chiari 0 and I and Idiopathic Syringomyelia, which we focus on and treat in the specialised work of our institute, are no exception to this. They can indeed manifest from birth or later, with symptoms sometimes triggered after trauma. Therefore, the journey towards diagnosis and finding the right treatment is challenging, and often patients experience deterioration during their search.

Thanks to the studies of Dr. Royo Salvador, we now know that the Filum Disease is the common and congenital etiological origin that causes the aforementioned diseases. It dates back to the embryonic development period and can affect various members of the same family.

On this International Rare Disease Day in 2024, we want to emphasise that promoting research and study on Filum Disease and Neuro-cranio-vertebral Syndrome with descent of the cerebellar tonsils and intramedullary cysts allows us to increasingly understand how the mechanism of Filum terminale traction affects the Nervous System in these pathologies. Consequently, early and effective diagnosis and treatments become possible for all patients.

For a better quality of life for the Syndrome of Arnold Chiari I and Idiopathic Syringomyelia patients, support research through a donation to the Chiari & Scoliosis & Syringomyelia Foundation (https://chiarifoundationbcn.com/en/donation-chiari-foundation/), and the future for these patients will become less rare!