More than 30,000 children born each year with a genetic disease. While some say they are the first few months, others will not appear until adolescence or adulthood. Today, the tools will identify these problems early, and organizations offering help. The point not to remain alone with the disease.
While most children are born without problems, more than 30,000 babies are born with a genetic disease each year. Today, 3 million people live well with a health problem related to a change in their genes.
A wide variety of disorders
Unfortunately, there are many genetic diseases: more than 7,000 identified to date. We also discovered a new weekly. Attention all genetic diseases are not necessarily inherited disorders. The problem can occur spontaneously in a baby, because of a "mistake" in DNA replication, or the effect of cosmic radiation on terrestrial or genetic makeup.
Moreover, all the diseases do not appear at birth. Approximately 2/3 are expressed in children and 1/3 occur in adulthood.
Today, screening for genetic diseases is through the classic Guthrie test, performed before leaving hospital. It can detect five diseases:
- Phenylketonuria, a defective enzyme in the liver that prevents the digestion of phenylalanine;
- Congenital hypothyroidism, a problem of production of thyroid hormones;
- Sickle cell anemia, a disease that affects red blood cells, common in Africa and the Middle East;
- The congenital adrenal hyperplasia, an abnormal function of the adrenal glands causing an excess of male hormones and / or a salt deficiency;
- Cystic fibrosis, a disease that causes respiratory failure.
Why not track more diseases? One could theoretically detect about thirty. But, as advocated by the World Health Organization, it is useless to look for diseases for which there is no cure. Certainly, cystic fibrosis can not be cured, but its detection allows early treatment that improves the health and lengthening life.
In some cases of inherited diseases known in the family, embryo screening may be offered.
Treatments for tomorrow
Genetic diseases are complex, and often they involve too few people to interest pharmaceutical companies. That is why there are few treatments. But the EU has implemented procedures to aid and encourage research on these so-called orphan diseases. Moreover, 40% of new molecules developed today are just rare diseases. 410 "orphan" drugs are developing well, and 32 are already on the market. Only downside: these treatments on a small number of patients, are necessarily very expensive to amortize costs. Gene therapy also represents a hope, several children were treated successfully in the case of deficiency of the immune system and other trials are underway.
Living with illness
When the diagnosis, it is often difficult to find advice or assistance to understand. But today there are databases of information on rare diseases, including Orphanet. Not only do we find information on more than 4200 diseases, medical experts and coordinates more than 380 patient organizations. The site also offers participation in clinical trials and the contact of isolated patients.
Because it is important for parents to accompany the child and teach him to live with this genetic disease.