Let’s talk about rare diseases

What are rare diseases?

The Ministry of Health specifies that “ in Colombia, an orphan disease is chronically debilitating, serious, life-threatening, and with a prevalence (the measure of all individuals affected by a disease within a particular period less than 1 in every 5,000 people, including rare, ultra-orphan, and forgotten diseases. Thus, these are diseases that affect a small number of people compared to the general population and, due to their rarity, raise specific issues. A disease may be rare in one region but common in another. There are also many common diseases whose variants are rare orrpha.n Rare diseases are life-threatening or long-term debilitating conditions with low prevalence and high complexity. Most of them are genetic diseases; others are rare cancers, autoimmune diseases, congenital malformations, or toxic and infectious diseases, among other categories,” adds the Ministry of Health.

Rare Diseases and

The commemoration of World Rare Disease Day began as a primarily European initiative, but over the years, it has become more global. More than 70 countries participated. The European Organization for Rare Disorders (EURORDIS) is promoting this global campaign in more than 100 countries to raise awareness of the needs and challenges faced by patients, which have increased since the World Health Organization declared the pandemic. It is essential to keep in mind that we have lived through a very complex time, one of great challenges for health, and that patients with rare diseases have specific care needs that cannot be interrupted or postponed, as they seriously compromise their quality of life,” says Luz Victoria Salazar, executive director of Acopl, who has led this commemoration in Colombia with other patient associations since. Salazar adds that it is necessary to “strengthen networking, adapt care models that minimize risks, and forge increasingly close relationships between various stakeholders in the public and private sectors and government authorities that allow for a diverse perspective on a population with rare diseases that has increased significantly in recent years.

Important facts about rare diseases

“Colombia is the only country with a mandatory registry for patients with rare diseases, according to Fundape,  foundation that provides support to patients with rare diseases.

There are 58,032 people included in the National Registry of Rare Diseases (as of. This registry provides information on incidence, prevalence, mortality, and the number of cases detected in each geographic area.

The diseases with the highest number of patients in Colombia are:

5.6% Multiple Sclerosis

4.7% Von Willebrand disease

4.7% Hereditary Factor VIII Deficiency

3.7% Guillain-Barre

2.5% Motor neuron diseases

Only 5% of rare or orphan diseases have a specific treatment, explains FECOER, the Colombian Federation of Rare Diseases .Betweenn 6,000 and 7,000 rare diseases have been identified worldwide. One in 20 people will live with a rare disease at some point in their lives. Despite this, there is no cure for most rare diseases, and many go undiagnosed. The first year this day was commemorated was a leap year, and February 29th was therefore chosen as World Rare Disease Day, precisely because of the rarity of the date. In non-leap years, it is celebrated on February 28th, a different month than the other .

What difficulties do people with rare diseases have to overcome?

• According to information from the Ministry of Health, patients with this type of disease have
• Difficulties in obtaining an accurate diagnosis
• Limited treatment options.
• Little or no research available on your condition
• Difficulty finding doctors or treatment centers with experience treating a specific condition
• In some cases, treatments are more expensive than those for a common illness
• Difficulty in requesting medical, social, assistance, or financial services due to lack of familiarity with the diseases
• Feeling of isolation
• Lack of information