When talking about rare diseases, perhaps one of the main associated sensations is uncertainty, not being able to clearly know what is happening or what the course of the disease will be generates anxiety, especially since these pathologies are chronic, progressive, debilitating and serious. Therefore, establishing an early diagnosis marks the roadmap to improve the quality of life of these patients and constitutes a great incentive to mitigate the anguish that can be generated by what, in terms of health, is happening in their bodies.
They are classified as rare diseases, those that due to their low frequency are little diagnosed or usually little identified, however, one can speak of 6,000 pathologies described worldwide; In our country, 2,198 of them are listed and although it is presumed that close to 350,000 Colombians suffer from them, there are only 58,032 officially registered cases from 2010 to date. 80% of these diseases are due to genetic causes.
Thus, it is especially important to be able to recognize the disease so that the affected person and their family can understand, in part, what they are dealing with. As stated by Dr. Diana Ramírez, Medical Geneticist at the Grupo Quirónsalud Clinic: “When you don’t know what you have, you don’t know what to expect either, for this reason, by improving knowledge and giving people a diagnosis, they will Being able to determine what is going to happen to their lives in general terms and how complicated the process could be, that already generates a certain calm. Additionally, establishing an early diagnosis will allow us to know what the course of the disease will be like and what aspects can be intervened, which will help us take preventive measures to reduce the impact of this condition that will appear in the patient in the long term. ”.
Although there are currently no specific treatments for all rare diseases, but only for a small group of them, it is gratifying to know that we have advanced in knowledge in such a way that we can identify their natural history to anticipate complications and the health problems that the patients will present and thus provide the appropriate support for both them and their families “The most important thing is that through this recognition we can guarantee the best possible quality of life, thanks to the integration of these people to work teams with vast knowledge in the molecular and clinical part that will make individualized approaches to each patient and each pathology” added Ramírez.
Finally, as the Geneticist concludes “Our challenge is to be able to prevent the complications associated with rare diseases that, by their nature, will require prolonged management over time, always watching for the appearance of new symptoms and possible complications”.
Data of interest
- In Colombia, a rare disease has been defined as one that affects less than one in five thousand births.
- 80% of cases are due to a genetic cause.
- 70% of these diseases appear in childhood.
- It is difficult to diagnose a rare disease, we can suspect it by reviewing its main characteristics.
- They are usually chronic, progressive, severe and debilitating.
- In general, these patients do not respond to the usual treatments, which is why they require multiple consultations.
- An early diagnosis is key to improving the quality of life of these patients.
- Hemophilia, achondroplasia, Morquio syndrome, Duchenne muscular dystrophy, Gaucher disease, are some of the rare diseases that are more easily identified and have specific treatments.