- According to the WHO, a rare disease occurs in less than five people per ten thousand inhabitants.
- The detection of this type of pathology is complex because in some the precise diagnosis can take more than a year.
- Although it is estimated that there are around 7 thousand different rare diseases in Mexico, only 20 are recognized.
The health field is full of challenges and one of the biggest is to offer alternatives for low-incidence problems. Sometimes it is thought that they are not important because they supposedly affect few people. In fact, It is estimated that at least 5.9% of the world population suffers from a rare disease.
A frequent problem is that the development of new medicines only focuses on the most common pathologies. The negative part is that the others are abandoned and even the investigations are minimal due to the lack of investment.
What is a rare disease?
According to the World Health Organization (WHO) it is anyone that occurs in less than five cases per ten thousand inhabitants. For its part, the last day of February commemorates the World Rare Disease Day and its objective is to make this type of suffering visible. In fact, worldwide it is estimated that there are around seven thousand6.
For this reason, since its creation in 2008, this commemoration points out how crucial it is to work for equal social opportunities. In addition to boosting healthcare and access to diagnostics for people living with conditions like cardiac amyloidosis, hemophilia or cystic fibrosisto mention a few.
More than half begin to manifest in adulthood and most of them are of genetic origin, that is, they cannot be prevented. Although if you work together with all the sectors involved in the health area, including the population, there will be better control and timely diagnosis that will have a direct impact on the quality of life of those who have them.
Detection of rare diseases
For example, the amyloidosis It is a systemic pathology that involves several organs in which a protein infiltrates that causes dysfunction, such is the case of the heart. In the end it usually leads to the alteration of the affected organs and systems.
“The heart, kidney, liver, intestine and nervous system are the organs most affected by the presence of amyloidosis. However, we know that heart damage is one of the main problems. In fact, 37% of cases present a heart problem,” says Dr. Kena Pastrana, Medical Manager of the Rare Diseases Portfolio for Pfizer Mexico.
In Mexico, there are significant challenges in medical care for this and other rare diseases. To begin with, updated data on the prevalence of them in the country continues to be built, which makes it difficult to understand the barriers that each person faces to. Not only combat any of these conditions but receive a timely and correct diagnosis.
Did you know that the #RareDiseases Are they of genetic origin? Therefore, if you are pregnant, we recommend that you attend your prenatal check-ups.#HealthForAll pic.twitter.com/eKC7G2h9b0
— ISSSTE (@ISSSTE_mx) February 28, 2023
From the appearance of the first sign, on average it goes through the review of five doctors and it can take up to a year to be properly diagnosed. This is because in addition to being a rare disease, it is often confused with other conditions due to its multidisciplinary nature.
For its part, hemophilia is a hereditary disorder where the blood does not clot and can cause spontaneous bleeding. While cystic fibrosis causes a buildup of thick mucus in some parts of the body, such as the lungs, making it life-threatening, early medical attention is paramount.
Finally, in the midst of this situation, the expert called for continuing to recognize the existence of these rare conditions, inviting doctors, civil society, the private sector, and the government to work to improve their prognosis, assuring that what is rare about them is not knowing them.
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World Scleroderma Day, a rare disease that affects women between the ages of 30 and 50
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