Rare Diseases: what are they and how many people do they affect

Rare Diseases are called ‘a set of chronic diseases that occur in a small percentage of the population’. They are also called minority diseases, rare diseases, rare diseases or orphan diseases , since their low incidence makes research and treatments dedicated to them very scarce, leaving them orphaned compared to other more common ailments.

In Europe, it is considered a Rare Disease that affects a proportion of 1 in 2000 people or less , and in other regions of the world, depending on the number of inhabitants, other criteria are used.

Although each rare disease can affect a very small number of people in the population (for example, Sanfillipo Syndrome affects only 70 people in Spain) by bringing together all those affected, a large sum is reached: up to 3 million people in Spain and 27 million in Europe. In total, between 6% and 8% of the world’s population suffers from a Rare Disease. And it is that, to date, there are 7000 rare diseases identified.

From PregDream we want to shed a little light on the subject of Rare Diseases, which can affect anyone and, paradoxically, it is becoming less and less rare to suffer from them.

WHAT DO RARE DISEASES HAVE IN COMMON?

Rare Diseases are, for the most part, chronic and degenerative, and 65% represent a great dependence on the part of the patient. It is common for them to appear during childhood, especially before the age of two, although they can develop in adulthood. For example, Huntington’s disease is genetic, but its effects appear in adulthood. 75% of these diseases affect children.

Around 80% of Rare Diseases are genetic, and among the other causes of their appearance are usually the consequences of an infection or allergy (in this case they would be acquired), or congenital anomalies. However, in general their origin is unknown , and they are difficult to detect. Although in many cases one is born with them, it is possible that in the family there had never been a case, and what has happened has been a genetic mutation.

THE GREATEST DIFFICULTIES SUFFERED BY THE SICK AND THE FAMILY

Rare Diseases cause, for the most part, a high disability in the person who suffers it . This disability can be physical, sensory or psychic, and can even occur several types at the same time. Therefore, its approach must be comprehensive, involving a wide variety of professionals.

As we said before, Rare Diseases are difficult to diagnose, and many times there is no effective treatment. As there are few cases, the investigation of these diseases is scarce, and also the epidemiological data that allow us to know how to treat it correctly . In relation to this type of ailments, there is also talk of orphan drugs, since pharmaceutical companies do not generate profits when developing and marketing drugs for different Rare Diseases.

All these obstacles mean that, on many occasions, the patient and his family have to travel to other cities or countries to receive treatment for the disease. This involves a great cost, which is added to the derivative of all the day-to-day difficulties for all members of the household. In general, families suffer as much as the sick, to see a loved one under this condition and because there is no way to help him.

The worst cases occur when the disease affects childhood and the child has very little chance of survival . 35% of children affected by rare diseases die before they are one year old, 10% before between 1 and 5 years, and 12% between this age and 15.

Due to all these difficulties, various associations and organizations , dedicated to specific diseases or all of these pathologies, to give these families the care and help they may need as far as possible.

WHAT ARE THE MOST COMMON RARE DISEASES?

Some of the so-called Rare Diseases are well known to the population, such as Amyotrophic Lateral Sclerosis , Tourette’s Syndrome, Cystic Fibrosis or the aforementioned Huntington’s Disease. According to the Spanish Federation of Rare Diseases (FEDER), Rare Diseases are the most common in Spain, and the only ones that present more than 1,000 cases , are various strange types of anemia, with approximately 10,000 cassis in the country; Amyotrophic Lateral Sclerosis, with 6000 cases; Scleroderma, with 5000 cases; Cystic Fibrosis, more than 4000 people; Duchenne myopia, with 3000; Tourette syndrome, with 2,500; Osteogenesis Imperfecta, with 2000, and different mitochondrial pathologies, with 1000 cases.

Aase Syndrome, Prader Willi Syndrome, Rett Syndrome, Hemophilia, Albinism, Wolfram Syndrome, Aniridia, Hydrocephalus, Hutchinson-Gilford Progeria Syndrome, Fanconi Anemia, Wilson’s Disease or Joubert Syndrome are some examples more than the more than seven thousand Rare Diseases that exist and occur in Spain. Although some do not even reach the hundreds of families affected by them, they do deserve a special mention for being even more masked.

WORLD RARE DISEASE DAY

Since 2008, the last day of February has been celebrated as Rare Disease Day. The European Organization for Rare Diseases (EURORDIS) chose precisely February 29, the rarest day of the year , for this campaign, although our non-leap years continues to be held on the 28th. Over the years, more and more countries They have been joining this initiative, until today more than 80 countries around the world have marked this date as World Rare Disease Day.

The objective is to make the entire population aware of the presence of these pathologies, and to motivate the development of new means to alleviate them. Little by little Rare Diseases are sensitizing more people, and every day we know a little more about them, to be able to ask all together to develop strong research for the development of treatments that help these people to improve their quality of life, and even to survive.