Published by ICSEB at 28 February, 2022
Rare diseases are conditions characterized by a low prevalence in the population. A disease is considered to be rare when it affects a limited number of people, specifically less than 5 out of 10.000 people.
Orphanet’s (the international website of reference that provides a classification for these conditions) rare diseases list presently includes Arnold-Chiari Syndrome Type I and Idiopathic Syringomyelia. This means that both belong to a group of conditions that often cannot rely on medications, research and treatments, even if their prevalence has not been defined due to a lack of available data,
Our neurosurgical centre is highly specialized in the diagnosis and treatment of both conditions, as the Filum Disease can manifest through the descent of the cerebellar tonsils and/or cysts within the spinal cord, manifestations that correspond to these diagnoses.
Based on our experience and caseload, we believe that the incidence of these conditions could be greater than so far established. As a matter of fact, the increasingly extensive use of Magnetic Resonance reveals a growing number of cases, usually detected by chance following diagnostic imaging tests for other reasons. Our R+D department is working also towards this direction, among its several lines of research.
Furthermore, years ago, while inquiring among family members of our Filum Disease patients, we found more and more cases with these diagnoses. This was confirmed once we proceeded to a systematic research, based on the family component.
Although this might mean that Arnold-Chiari Syndrome Type I and Idiopathic Syringomyelia are not so rare, patients with these diagnoses find themselves in a similar situation to those who suffer from an orphan disease – with few dedicated centres and specialists that can assist them in their area of residence. They have to travel nationally and internationally to find expertise and specific treatment, with a significant impact on the quality of their life.
Today is Rare Disease Day and its purpose is to spread awareness on these conditions, in order to help people find the correct diagnosis and treatment, ensuring a better life for patients.
Each of us can contribute in many ways to Rare Disease Day. One of them is by supporting patients and families living with an orphan condition, be it through donations or volunteering.
If you want to do your bit for the diagnoses that are included in the Filum Disease, you can check the Chiari & Scoliosis & Syringomyelia Foundation website.
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