Rare diseases tend to be overlooked because they affect a small group. As a result, those affected pay for the consequences of lack of health equity. However, the world day seeks to raise awareness.
Being ill represents an adverse scenario in which there is some degree of uncertainty. However, suffering from a disease that little is known about and that the health care system is not prepared to deal with is a tragedy. From this unfavorable situation, the World Rare Disease Day was created, an initiative of awareness and progress.
The last day of February was the date set for a campaign to reduce the isolation of people with rare diseases. In addition, the aim is for medicine to also advance in favor of atypical diseases which, according to data from the World Health Organization (WHO), affect 7% of the world’s population.
We believe there is no better time to clarify what a rare disease is, some historical data on it. How to help a diagnosed person and how you can help around the time of the world day.
What is a rare disease?
A rare disease is defined as any pathology that affects a small part of the world’s population. If you look at the numbers, the disease is considered rare when it affects less than 5 people per 10,000 inhabitants. In addition, the number of rare diseases is estimated to be around 7,000. Here are some of the most unusual.
Ebstein anomaly
Ebstein’s anomaly is a disease or defect of the heart that occurs from birth. What is happening is that the tricuspid valve has an incorrect location. Likewise, the valve flaps do not have a normal structure. The consequences can be an enlarged heart, heart failure or blood leaking through the valve.
Moebius syndrome
Moebius syndrome is considered to be a rare and congenital neurological disease that causes paralysis of the face. In addition, there are variations in eye abduction, swallowing problems, lack of correct pronunciation, among others. Its origin is the insufficient development of the cranial nerves 6 and 7.
Chediak-Higashi disease
Chediak-Higashi disease is caused by an alteration and recessive mutation in the lysosomal gene. The consequences of this anomaly are noted in the body’s defenses, as they do not perform the functions of containing the external agents that attack the body.
Thus, the phagocytic function – which consists of the selective elimination of damaged cells or microbes – is limited. The above leads to problems with branching out from anemia, repetitive infections, and increased liver size.
Bardet-Biedl syndrome
It is an autosomal recessive disease that affects different areas of the body. Obesity, reproductive organ dysfunction, mental retardation, polydactyly and heart defects can occur, to name just the main alterations.
Hermansky-Pudlak syndrome
It is a genetic and multisystem disorder that includes 8 independent disorders. Some of these disorders are oculocutaneous albinism, pulmonary fibrosis, granulomatous kidney disease, hemorrhagic disease, etc.
Expanding on the above information a bit, other diseases that are rare, but have a higher relative frequency, are included in the following list :
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