It may seem that very few people suffer from a rare disease, however, according to the World Health Organization, in the world, there are thousands of rare diseases and 7% of adults and children in the world suffer from them.
Rare diseases are those that suffer few people, that is, a very limited number of the population. In fact, a specific disease is considered rare when it suffers a number less than 5 people per 10,000 inhabitants.
The children, unfortunately, are also victims of these diseases and anguish of the parents is alarming. When considered rare, there is not much research to be carried out and treatments are scarce. The families that suffer from it usually become isolated, when what they have to do is connect with other people who are going through the same situation.
The following 8 rare diseases are suffered by children even before they are born and contain a genetic element.
Some rare diseases of the genetic component
Here we discover a list of the 8 rare childhood diseases. They are the most common and have a genetic component.
The Cystic Fibrosis is a disease that affects the sweat glands and mucous membranes. We are talking about a chronic and also hereditary disease, whose symptoms affect the lungs to a greater degree. However, the liver, intestine, and pancreas can also be impaired by the accumulation of mucus viscosity, which tends to stick in these areas.
The syndrome Ret t usually manifests in girls and not so evident at birth, but tends to manifest itself in the second year of life. Be that as it may, in all cases, this syndrome usually manifests before the age of 4 years. This disease is the consequence of mutations in the X chromosome and its symptoms are based on a delay in motor coordination and language.
The Hemophilia is another hereditary disease that affects the clotting blood, it affects the blood protein that is responsible for controlling bleeding. What it generates is not to bleed more abundantly, but for a longer period. Women, although they do not have hemophilia, can transmit the disease to their sons. Continue reading- The five exercises that are most effective in losing weight
The Moebius syndrome is based on the partial development of two cranial nerves. These nerves have several functions such as blinking, facial expression and lateral movement of the eye. This disease produces paralysis in the face and its symptoms are: problems in pronunciation, speech and cause drooling.
We are talking about another extremely rare genetic disease. Syndrome Hutchinson-Gilford Progeria causes premature aging in children. The little ones that suffer from it are usually born totally healthy and the disease manifests itself after a few months.
6.Gilles de la Tourette syndrome
Syndrome Gilles de la Tourette is characterized by involuntary movements of the muscles, which causes the child to make sudden and rapid movements. In the same way, by the involuntary performance of words and noises. This syndrome is also known as the disease of tics.
The Aase syndrome is hereditary and appears due to an alteration presented in the bone marrow. The consequence is a congenital anemia and the appearance of skeletal and joint malformations.
Syndrome Prader Willi occurs in children from birth and causes many problems. It is characterized by the obesity of children who suffer from mental retardation, low muscle tone and hypotonia or feeding problems, and respiratory infections.
If you are parents of children with rare diseases, we understand your frustration and anguish due, above all, to the little research that is done in this field. Many are the parents, relatives, friends, and associations that struggle every day to face a medical diagnosis. And collaborate with the investigation with the aim of finding a solution to these pathologies.
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