Small, thin, bald head and wrinkled skin: Progeria children are often stared at as if they were ghosts. The most striking feature of their suffering is premature senescence. Although researchers have unraveled the mystery of the disease, no effective therapy is yet in sight, because every cell in the body is affected.
When they first meet, many people react with disbelief and shock, barely able to conceal their horror. You see aged children with wrinkled skin and age spots. Like old people, they suffer from arteriosclerosis, osteoporosis and rheumatism. And yet they are children with the same desires. Dream like their healthy peers. Only they have less time to realize them. Children with the hereditary disease Progeria die early. They usually live for a maximum of 15 years.
Progeria: Easy to diagnose but incurable
Medical research hopes for help for progeria children soon. In the U.S. and France, drugs are currently being tested that could reduce the suffering of young patients and prolong their lives. The first small successes have been achieved in clinical tests in France, says one of the few German progeria experts, Thomas Brune, senior physician at Magdeburg University Children's Hospital.
Six years ago, researchers unraveled the mystery of this cruel but fortunately extremely rare disease. This is due to a defect in the lamin gene, which is responsible for the stability of the cell nucleus walls. "Since then, the diagnosis is no longer a problem," says Brune. A relatively simple test is sufficient. Researchers around the world are having a hard time finding a therapy, however, because every cell in the human body is affected by progeria.
Only 150 cases known since 1886
Already from the age of 34. The mutated gene carries out its diabolical work during the first week of pregnancy. "The later the therapy is started, the lower the chances of reaching the cells that are already disturbed," says Brune. This is why it is most promising to treat the children immediately after diagnosis, when the cells are not yet so severely disturbed. In this way, severe damage such as calcification of the arteries could at least be attenuated. But a cure for progeria is not yet in sight.
According to the European Foundation for Children with Progeria, about 150 cases have been reported worldwide since the disease was first described in 1886. In the previous year, 40 children diagnosed with progeria lived all over the world, six of them in Germany.
It is estimated that one child per four million births is born with this fatal spontaneous mutation. This takes place in the gametes of the parents. It is suspected that among the 30 million sperm cells of the father, there are always some with mutated genes. In the only case worldwide in which two children in a Belgian family are affected, however, the mother's eggs were not in order.
Death from heart attack or stroke
The terrible disease breaks out six to twelve months after birth. Before that, the affected person develops like any normal child. First signs of the disease appear on the skin. It becomes like leather, dry and red. In the second year of life, the children hardly gain any weight or size. Hair starts to fall out, age spots become visible. Later, the joints become stiff, especially the fingers and knees. Progressive arteriosclerosis changes the blood vessels and all other organs. the consequence are circulatory disturbances. hardening of the connective tie. Most of them die of heart attacks or strokes while they are still children.
Until today, medicine can only alleviate the physical complaints – rheumatism, osteoporosis, hardening of the arteries. Preventive therapies with low-dose aspirin to thin the blood. Growth hormones are not very helpful for children with progeria, according to the European Foundation for Progeria. She recommends early contact with other affected families and qualified therapists to get emotional support, important information and help. Because many families believe to be all alone in the world with their fate.