Everything you want to know about rare diseases

Rare and orphan diseases: what is it?

A rare disease is a disease that affects one in 2000 people, ie for France less than 30 people for a given disease and in total, 000 to 3 million people. A large number of these diseases are also said to be “orphan” because they do not benefit from medication and sufficient care. There is little interest in research because they do not offer a significant commercial outlet. Also each year, the Telethon collects funds to help advance research on neuromuscular diseases.

Cystic fibrosis

Cystic fibrosis, or cystic fibrosis of the pancreas, is a rare inherited genetic disorder. It is responsible for mainly respiratory and digestive problems because the secretions (or mucus), present in particular in the bronchi, the pancreas, the liver, the intestines and the genitals, are abnormally thick. 6 people (children and adults) suffer from cystic fibrosis in France. Since 000, screening has been carried out at birth for all newborns. It allows, by an early diagnosis, a faster and more adapted care of the children suffering from cystic fibrosis.

Duchenne muscular dystrophy

The most common and best known degenerative muscle disease, due to the absence or alteration of a protein: dystrophin. It is an inherited disease linked to sex. It is characterized by a progressive loss of muscle strength and respiratory or heart failure. It is transmitted by women, but only affects boys. About 5 patients in France.

Leukodystrophies

This complex name designates a group of orphan genetic diseases. They destroy the central nervous system (brain and spinal cord) of children and adults. They affect myelin, a white substance that envelops the nerves like an electrical sheath. In leukodystrophies, myelin no longer ensures the proper conduction of nerve messages. It does not form, deteriorates or is too abundant. Each case is unique but the consequences are always particularly serious. This disease affects less than 500 people in France.

Amyotrophic lateral sclerosis or Charcot’s disease

ALS is damage to motor neurons located in the anterior horn of the spinal cord and the motor nuclei of the last cranial nerves. The origin of this fatal and incurable condition is unknown. Death occurs on average within two to five years of diagnosis and is due, in the vast majority of cases, to a respiratory disorder, aggravated by bronchial secondary infection. About 8 patients have it.

Marfan syndrome

It is a rare hereditary genetic disease, in which the connective tissue is altered (this is the tissue that ensures the cohesion and support of the different organs in the body). Very different organs (eyes, heart, joints, bones, muscles, lung) can therefore be affected. Marfan syndrome affects both boys and girls.

It is estimated that around 20 people are affected by this disease in France.

Sickle cell anemia

Sickle cell anemia or “sickle cell anemia” is an inherited genetic disease characterized by the alteration of hemoglobin, a protein ensuring the transport of oxygen in the blood. This disease manifests itself in boys as well as in girls, if both parents are transmitters. There are around 15 cases in France.

Osteogenesis imperfecta or glass bone disease

It is a rare hereditary genetic disease, characterized by great bone fragility. Thus, the bones fracture easily, even after a benign trauma (fall from his height, slip…). It appears at varying ages, sometimes in childhood, sometimes in adulthood. It affects both boys and girls. In France, 3 to 000 people have osteogenesis imperfecta.

Do you want to talk about it between parents? To give your opinion, to bring your testimony? We meet on https://forum.parents.fr. 

Do you want to talk about it between parents? To give your opinion, to bring your testimony? We meet on https://forum.parents.fr.