The definition of a “rare” disease is based on how often they occur in the population not by whether or not there is a genetic connection. Some rare diseases tend to run in families caused from a change in a single gene or in combinations of genes.
The common misunderstanding is that rare diseases come only from genetic causes while in fact that is not true due too genes are inherited. Many rare diseases do have a genetic cause but there are also many others that do not have any physical evidence of a gene causing them and are classified as non-genetic.
The definition of a “rare” disease is based on how often they occur in the population not by whether or not there is a genetic connection. Some rare diseases tend to run in families caused from a change in a single gene or in combinations of genes. There are other unrelated to genetic origins that develop from infections, autoimmunity, environmental exposure, or an unknown cause.
It is another myth that if nobody else has a particular condition, it cannot be genetic! Some genes can mutate spontaneously, meaning that they might not have any previous family history or examples! Furthermore, just because you have unexplained or chronic symptoms doesn’t necessarily mean you have a rare genetic disorder. A proper evaluation, a thorough medical history, and relevant medical investigations would all be required in order to come to any conclusions.
For families, recognition is critical.
Early consultation with a physician is required if there is chronic progressive symptoms, recurrent unexplained symptoms or unusual symptoms. Timely interventions and genetic counselling, where appropriate, can greatly improve the quality of life. By communicating openly with healthcare providers, families will have an understanding of the potential risks, available testing options, and long-term care required, therefore enabling them to make informed decisions based on facts rather than fear or misinformation.
Modern medicine has enhanced the ability to both diagnose rare diseases earlier and more accurately through improved imaging capabilities, laboratory investigations, and genetic testing. Additionally, the use of a multidisciplinary team made up of a number of different specialists has enhanced the long-term management of rare diseases. Patient advocacy groups and support networks for patients are extremely valuable because they assist patients in obtaining emotional support, guidance, and access to resources and treatment options. Presently, due to the increased awareness and improved access to speciality care, many patients with rare diseases can live longer, healthier and more productive lives than ever before.
Dr. Sambit Kumar Bhuyan, Consultant - Medical Gastroenterology, Manipal Hospital, Bhubaneshwar
