What are rare diseases? > Health and Wellness.
Rare diseases
are those whose incidence is less than one case for every 2,000 people,
or, put another way, which accounted for less than five cases per
10,000 inhabitants. More than seven thousand rare diseases
or rare have been identified, and although taken individually may seem
that they affect a small group of the population, is estimated to affect
7% of the world's population. In Spain alone there are 3,000,000 people affected by any of these pathologies.
In addition, many patients do not even know what disease suffer, because of the difficulty involved in the diagnosis of conditions that few data are available (it has medical and scientific knowledge of less than 30%) - the average to diagnose these diseases is five years, and 20% takes up to 10 years to get a diagnosis- and by a shortage of professionals with specific training in the area of residence of patientsthat are scattered geographically, which further complicated its personalized attention once determined her wrong.
In approximately eight in ten cases the cause is usually genetic, although infectious agents, environmental factors, and other unknown causes may be the source of a rare disease. Approximately 50% of rare diseases have neurological symptoms, and more than half are beginning to manifest itself in childhood. Most of them are quite serious and disabling (75% of patients have some degree of dependency, and more than 80% physical or emotional disability), degenerative, chronic (85%) or deadly (in 50% of cases).
In Spain, according to data from the Spanish Federation for rare diseases (FEDER), 76% of patients have felt discriminated against with respect to patients with common diseases. As explains Isabel Calvo, President of ERDF, "ignorance, lack of information, the scarcity of research, the precarious experience of the professionals, the absence of specialists and a lack of coordination among experts are some of the reasons for this discrimination", and adds that "the situations of social injustice cause the impoverishment of families, who have to spend more than 20% of their income to the approach of disease"which may mean an average of € 350 per month per family.
On the occasion of the celebration of the World day for rare diseases, (28 February) the ERDF, along with other groups, often spreading an awareness campaign in order to educate society so that, through the knowledge of these pathologies, better understanding of the problems that people face and matching means to guarantee their rights.
Another terrible disease that gave us the creeps on the big screen is Proteus Syndrome, which causes abnormal growth of adipose tissue, muscles, bones, skin and blood vessels... deforming to the person who suffers from it, in this case John Merrick, the Elephant Manprotagonist. It is a congenital disease extremely unusual, which have been documented around 200 cases worldwide since it was identified in 1979, but it makes us reflect on the terrible stigma that may suffer a person affected by any of the many disfiguring diseases that exist.
Lateral sclerosis Amyotrophic affected American baseball player Lou Gehrig, who died because of this neurodegenerative disease in 1941. In 1942, his story was made into a film (the pride of the Yankees) and starring Gary Cooper. This disease, which affects the motor neurons, produces progressive muscle weakness, causing the death of the patient few years after diagnosis. Although much progress has been made in treatments, allowing prolong life and improve the well-being of the sick, the causes of ALS and how to prevent it or cure it are still not known.
This disease also jumped to the media because he has already finished with the lives of 39 Italian footballers, the most famous Signorini, Captain of Genoa, who died in 2002, at the age of 42. Another more recent case is that of Stefano Borgonovo, who played as a centre forward in the Milan, and suffers ELA since 2005. Failed to determine the reason for the high incidence of this disease over a group of people so concrete, and experts estimate that it may be due to a set of risk factors related to the sporting activity of those affected.
Retinitis pigmentosa, an eye condition of genetic origin with around 15,000 people in Spain, and causes a loss of progressive vision that could result in blindness, mark the life of the protagonist's dancing in the dark, by Danish director Lars von Trier.
The film has helped awaken the general interest about many rare diseases, and others with an impact limited to certain geographical areas or population groups (leprosy, tuberculosis, syphilis...). The catastrophic film also warns, rightly, that some infectious diseases that are practically non-existent in the developed countries, can be turned into a threat of epidemic in the future due to the geographical mobility of the population, which provides that a virus can travel from one end to another of the world in a few hours (as the virus of Ebola in the popfilm)emigration and, even, the bioterrorism (twelve monkeys).
In addition, many patients do not even know what disease suffer, because of the difficulty involved in the diagnosis of conditions that few data are available (it has medical and scientific knowledge of less than 30%) - the average to diagnose these diseases is five years, and 20% takes up to 10 years to get a diagnosis- and by a shortage of professionals with specific training in the area of residence of patientsthat are scattered geographically, which further complicated its personalized attention once determined her wrong.
In approximately eight in ten cases the cause is usually genetic, although infectious agents, environmental factors, and other unknown causes may be the source of a rare disease. Approximately 50% of rare diseases have neurological symptoms, and more than half are beginning to manifest itself in childhood. Most of them are quite serious and disabling (75% of patients have some degree of dependency, and more than 80% physical or emotional disability), degenerative, chronic (85%) or deadly (in 50% of cases).
In Spain, according to data from the Spanish Federation for rare diseases (FEDER), 76% of patients have felt discriminated against with respect to patients with common diseases. As explains Isabel Calvo, President of ERDF, "ignorance, lack of information, the scarcity of research, the precarious experience of the professionals, the absence of specialists and a lack of coordination among experts are some of the reasons for this discrimination", and adds that "the situations of social injustice cause the impoverishment of families, who have to spend more than 20% of their income to the approach of disease"which may mean an average of € 350 per month per family.
On the occasion of the celebration of the World day for rare diseases, (28 February) the ERDF, along with other groups, often spreading an awareness campaign in order to educate society so that, through the knowledge of these pathologies, better understanding of the problems that people face and matching means to guarantee their rights.
Rare, large unknown diseases
Most of these diseases are completely unknown to the general population; others, such as hemophilia, cystic fibrosis, amyotrophic lateral sclerosis, Duchenne muscular dystrophy, or Lupus, may be somewhat more familiar for his appearance in the media. Some, even, to know them thanks to the seventh art, although not always remember their names. Thus, Elijah, the character played by Samuel L. Jackson in the protected (directed by M. Night Shyamalan) suffers from osteogenesis imperfecta, also known as glass bone disease because a lack of collagen (protein necessary for the formation of teeth and bones) of genetic results from bone malformations, fractures, and mobility problems. In Spain are diagnosed of the disease about 500 or 600 people, although it is believed that there could be about 3,000 cases.His reflection in the cinema
In the film life oil (Completo Lorenzo oil in original version), starring Susan Sarandon and Nick Nolte, the parents of a child affected by a strange degenerative and incurable, disease called adrenoleukodystrophy (ADL), initiated an investigation on their own to try to discover a substance that stops the degenerative process that was going to end up with the life of his son. This disease is due to an accumulation of fatty acids long-chain in the nervous system that causes degeneration of the myelin sheath (sheath of the nerve fibers), which causes such as paralysis, blindnessand neurological damage. In its most serious form the patient is in a semivegetativo State and dies before ten years. The real Lorenzo Odone lived until age 30, surpassing in more than 20 years the initial prognosis from doctors, once their parents to include in your diet a combination of oils, known as Lorenzo's oil, which does not cure the disease but, at least in his case, delay its progression. At present, the only treatment accepted by the scientific community to heal the ADL is bone marrow transplantation, but is only effective if applied in the initial stage of the disease.Another terrible disease that gave us the creeps on the big screen is Proteus Syndrome, which causes abnormal growth of adipose tissue, muscles, bones, skin and blood vessels... deforming to the person who suffers from it, in this case John Merrick, the Elephant Manprotagonist. It is a congenital disease extremely unusual, which have been documented around 200 cases worldwide since it was identified in 1979, but it makes us reflect on the terrible stigma that may suffer a person affected by any of the many disfiguring diseases that exist.
Lateral sclerosis Amyotrophic affected American baseball player Lou Gehrig, who died because of this neurodegenerative disease in 1941. In 1942, his story was made into a film (the pride of the Yankees) and starring Gary Cooper. This disease, which affects the motor neurons, produces progressive muscle weakness, causing the death of the patient few years after diagnosis. Although much progress has been made in treatments, allowing prolong life and improve the well-being of the sick, the causes of ALS and how to prevent it or cure it are still not known.
This disease also jumped to the media because he has already finished with the lives of 39 Italian footballers, the most famous Signorini, Captain of Genoa, who died in 2002, at the age of 42. Another more recent case is that of Stefano Borgonovo, who played as a centre forward in the Milan, and suffers ELA since 2005. Failed to determine the reason for the high incidence of this disease over a group of people so concrete, and experts estimate that it may be due to a set of risk factors related to the sporting activity of those affected.
Retinitis pigmentosa, an eye condition of genetic origin with around 15,000 people in Spain, and causes a loss of progressive vision that could result in blindness, mark the life of the protagonist's dancing in the dark, by Danish director Lars von Trier.
The film has helped awaken the general interest about many rare diseases, and others with an impact limited to certain geographical areas or population groups (leprosy, tuberculosis, syphilis...). The catastrophic film also warns, rightly, that some infectious diseases that are practically non-existent in the developed countries, can be turned into a threat of epidemic in the future due to the geographical mobility of the population, which provides that a virus can travel from one end to another of the world in a few hours (as the virus of Ebola in the popfilm)emigration and, even, the bioterrorism (twelve monkeys).
Some examples of rare diseases
In the case of rare diseases the reality far surpasses fiction and experts estimate that about 7% of the European population is deeply troubled condition included under this heading. The list is very long, and rises to new diseases or variants of the already diagnosed, you will discover We have selected some that affect different organs and parts of the body, from the blood into the lungs, or even whole organism:- Interstitial cystitis: urological condition, in which there is a chronic inflammation of the bladder wall with inflammation of the muscle tissue, which causes a painful wall of bladder pressure, and has resulted in the presence of chronic pelvic pain, together with desire frequent and urgent urination and pain when urinating. It affects mostly young women and middle-aged.
- Primary sclerosing cholangitis: is a chronic liver disease, in which there is a progressive inflammation of the bile ducts, often associated with ulcerative colitis.
- Epidermolysis bullosa: hereditary disorder characterized by exaggerated fragility of the skin and mucous membranes, resulting in the formation of blisters on the skin as a result of slight friction, or even spontaneously.
- Idiopathic pulmonary fibrosis: condition in which the lung tissue will heal and becomes rigid, having symptoms such as cough, shortness of breath, and fatigue to perform moderate exercise or daily activities, among others.
- Pulmonary hypertension: characterized by excessively high blood pressure in the pulmonary arteries that causes the right side of the heart to work more than normal and, over time, can become enlarged and appear heart failure.
- Common variable immunodeficiency: is a disorder of the immune system, which does not work properly. Those affected may suffer diarrhea, because foods that ingest are not properly absorbed from the gastrointestinal tract, and may also suffer from flaws in the adrenal glands, thyroiditis, and rheumatoid arthritis.
- Myasthenia gravis: this disease, autoimmune origin, affects people of any age, race and sex, manifests itself with loss of strength and great fatigue, and presents different degrees of severity. Lack of strength can extend to the breathing muscles and cause a paralytic crisis widespread, what is known as a myasthenic crisis, is a severe, requiring hospitalization.
- Nephronophthisis: it is a hereditary kidney disease and the leading cause of chronic kidney failure in children.
- Progeria: deadly genetic condition, which consists of a premature and accelerated aging of children, causing developmental disabilities, loss of hair and body fat, aged skin, pain in the joints, generalized atherosclerosis, cardiovascular disorders, and stroke, among other problems.
- Thrombocytopenic purpura (ITP) idiopathic: ITP is a chronic disease of the blood, of unknown origin, and symptoms ranging from the Mucocutaneous bleeding and menorrhagia to internal and intracranial hemorrhages.
- Moebius syndrome: in this disease, present at the time of the birth, the development of the facial nerve is absent or diminished, resulting in disorders of the facial muscles and the jaw.
Published for educational purposes