Being sick represents an unfavorable scenario in which there is a certain degree of uncertainty. However, suffering from a disease of which little is known and that the health system is not prepared to deal with, is a drama. From this adverse situation, World Rare Diseases Day has been created, an initiative to raise awareness and advance.
The last day of February was the date selected for a campaign to reduce the isolation of those affected by rare diseases. In addition, it is sought that medicine also advances in favor of atypical diseases that, according to data from the World Health Organization (WHO), harm 7% of the world population.
Indeed, we consider that there is no better time to clarify what a rare disease is, some historical data about it, how to help a diagnosed person and how you can support yourself on the day of commemoration.
What is a rare disease?
A rare disease is any pathology that affects a small sector of the world population. Taking it to the numbers, the disease is considered rare when it affects fewer than 5 people per 10,000 inhabitants. Besides, an approximate of 7000 strange diseases is estimated. These are some of the most anomalous.
Ebstein's anomaly is a disease or defect in the heart that occurs from birth. What happens is that the tricuspid valve has an inaccurate location. On the other hand, the valve flaps do not have a normal structure. The consequences can be an enlarged heart, heart failure, or leakage of blood through the valve.
Moebius syndrome is considered a rare and congenital neurological condition that causes paralysis of the face. Also, there are variations in ocular abduction, swallowing problems, deficiency in correct pronunciation, among others. Its origin is in the insufficient development of cranial nerves 6 and 7.
Chediak-Higashi disease is caused by a recessive modification and mutation in the lysosomal gene. The sequelae of this abnormality are noted in the body's defenses, since they fail to fulfill the functions of containment of external agents that attack the organism.
In this way, the phagocytic function – which consists in the selective elimination of damaged cells or microbes – is limited. The foregoing brings as a ramification problems of anemia, repetitive infections and an increase in the size of the liver.
It is an autosomal recessive disease that affects different areas of the body. Obesity, poor functioning of the reproductive organs, mental retardation may occur, polydactyly and heart defects, to name the main alterations.
It is a genetic and multisystemic disorder that comprises 8 independent disorders. Some of these disorders are oculocutaneous albinism, pulmonary fibrosis, granulomatous kidney disease, hemorrhagic disease, and so on.
Expanding on the above information a bit, other rare diseases, but with a higher relative frequency, They are in the following list:
Amyotrophic lateral sclerosis (ALS).
Syndrome of Goodpasture.
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Historical facts about World Rare Disease Day
World Rare Disease Day was defined for the last day of February for a very particular reason. And is that the second month of the year differs from the rest or has the rarity of the leap component. Thus, it was decided to use the most atypical period to give importance to progress in favor of rare diseases.
Its celebration began in 2008 and the general motto defended by all who join the cause is "Research is our hope." Also, in this year's official presentation, the message expresses "We are rare, we are many, we are strong and we are proud."
The commemoration comes from the relatives of those affected who have fought to give them a voice and eliminate the stigma of isolated people, so that there is equal treatment from the health system.
Thus, European societies such as the European Organization for Rare Diseases (EURORDIS) and the Spanish Federation of Rare Diseases (FEDER) joined the cause and the expansion is now global. The latter is noted with the presence of the National Organization for Rare Disorders (NORD), an enormously collaborative US group.
How to help a person diagnosed with a rare disease?
The diagnosis of a rare disease is a complex reality check to assimilate. This fact produces uncertainty, fear, cases of depression and anxiety. Therefore, the following care and attention are recommended to help the patient to get ahead:
Understand the disease. Despite the fact that they are rare diseases, knowing in detail what the condition consists of and how it progresses can make the help of the environment point in the same favorable direction.
Make consistent decisions. When deciding which path to take for treatment or analyzing all options, the impulsiveness of the moment should not be played a part. It is best to wait for calm to arrive and use consistency as the north.
Do not neglect emotional health. Help the patient drain their emotions, doubts and fears from communication, which will give stability throughout the subsequent process.
Use professional psychological support. Psychological disorder has a high probability of appearing at some stage. Therefore, anticipating with qualified psychological help is a great strategy to avoid psychopathological disorders.
Also read: What are rare diseases?
How can you support World Rare Disease Day?
The support that can be given to World Rare Diseases Day ranges from a small gesture to organizing an event to collect donations. Therefore, some interesting ideas are the following:
Use the networks to give visibility to World Rare Diseases Day with a photo of the official logo.
Comment on networks with a message of encouragement using the hashtag #RareDiseaseDay.
Publish statistics so that the problem that affects patients takes the real preponderance it deserves.
Organize any event that suits the environment and raise funds to continue investigations of treatments aimed at rare diseases.
Tactfully present a close case to sensitize the population.
"Advancing in the treatment of rare diseases is the next step towards social equity in the world."
What to remember about World Rare Disease Day?
Empathic participation in World Rare Disease Day is the basis for evolution to continue and those affected are no longer the exception to the rule in terms of advanced treatments.
The last day of February is a reminder, but collaborations and initiatives can be made at any time of the year. Integration is the solution and it is in our hands. Together we are more!
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