Currently, there are 1,000 Nearly 7.000 different types of rare diseases, which affect the 7% of the world's population already more than 3 million people in Spain. Many of them have a genetic origin, but not all genetic alterations can be classified as such. Let's look at the first part about rare lung diseases.
In a society where everything moves through social networks and the likes obtained, entities as powerful as EURORDIS (European Organisation for Rare Diseases) has less than 37.000 followers on Facebook, while NORTH JUTLAND (National Organization for Rare Disorders) in the US does not reach 67.000 (Figures from October 2019).
If 7% of the world's population is affected, Where are the missing people? Why?é is “lacking in interés ”?
How many of these rare diseases are lung diseases?
The Spanish Federation of Rare Diseases (SPRING) has classified 32 lung diseases as rare respiratory pathologies.
Additionally, in cases of complex rare diseases, the respiratory system is compromised and causes respiratory problems in the patient, which is why they must be kept in mind.
Among the best known are pulmonary hypertension (PH), cystic fibrosis (CF), alpha-1 antitrypsin deficiency, primary ciliary dyskinesia, lymphangioleiomyomatosis (LAM) and idiopathic pulmonary fibrosis (IPF).
It is even published by expert clinicians who both grave asthma and cough cróExperience could fall under these so-called rare diseases, although further research is still needed in this regard.
The challenges of rarity, a problem that comes from long agoo
Regardless of the pathology they refer to and where they live, affected people continue to face the same challenges:
- Delay in diagnosis: A patient takes a Average of 5 years to receive a diagnosis, it can even take more than 10 years to achieve this. This is due to the lack of knowledge that health professionals have about these pathologies, the difficulty in evaluating the symptoms that are often similar to those of other more frequent pathologies and the low investment of resources.
- Lack of development of innovative drugs or therapies:The development of drugs for this type of pathology takes about 20 years, from the discovery of the main component until the drug is on the market, and costs between 2 and 4 billion dollars.
According to the European Medicines Agency (EMA), to date, only 1% of research has been directed towards developing treatments for rare lung diseases.
The Economist magazine, in its March 2 issue, states that only 400 of the 7.000 rare diseases have a treatment.
Regulatory authorities such as the EMA and the FDA (US Food and Drug Administration) require companies developing innovative treatments and therapies to contribute to future research and development (R&D) alongside clinical experts and researchers with patient registries.
The FDA is currently trying to help increase the development of clinical trials by speeding up the process with specific measures in favor of orphan drugs.
The participation of patient organisations with mature relationships with key stakeholders in disease registries considerably facilitates the likelihood of positive progress in this field of action that is so important for affected patients and their families.
- Difficulty in accessing treatments:The cost of treatments is very high for the health systems of many countries, as is the case in Latin America, although there are countries, such as Colombia, where legislation requires access to treatment.
- Lack of comprehensive care for complex diseases: Delayed diagnosis means that affected people do not begin receiving treatment until the advanced stages of their illness. Furthermore, when they do begin receiving treatment, especially for more complex pathologies, the treatment focuses on the pharmacological part, without addressing the set of comprehensive care necessary to treat their illness effectively.
More information on Rare Diseases: https://lovexair.com/lovexair-estara-presente-en-el-i-congreso-internacional-de-enfermedades-raras-respiratorias/
Last updated on 7 March, 2026
