Crystal people

The fragile want to be strong. People suffering from Osteogenesis Imperfecta are sometimes called “crystal people”. I remember once I saw a video about raising money for the second stage of the operation for a girl who called herself a “crystal”. Her bones are fragile, like Bohemian glass, and the inner core is steel. Then I was interested in this topic. And I found a video on YouTube about a guy who also had this disease. In this video, you can find out that over the 17 years of his life, he had 36 fractures. His body does not produce enough collagen and because of this his bones are very fragile. When we hit the jamb, we will have a maximum bruise, but the hero of the video can easily have a double fracture with displacement. After watching this video, I realized that “crystal people” are those people who always need to be very careful. People with osteogenesis imperfecta have a genetic disorder, the main manifestation of which is increased bone fragility. In people who suffer from such a disease, a fracture can occur even under the weight of a blanket, which is why they are called “crystal”. In the body of patients, either there is not enough collagen – a protein that forms the basis of connective tissue and ensures its strength and elasticity, or its quality does not correspond to the norm. Is there a cure for this disease? As I know, since osteogenesis imperfecta is a genetic disease, the possible forms of therapy are limited exclusively to symptomatic methods of treatment. But after searching for information on this topic, I learned that surgical orthopedic methods are also used, for example, osteosynthesis using telescopic pins inserted into the bone in childhood and “growing” with it. Physiotherapy is also used, which boils down to improving the muscular frame, as well as improving coordination, which allows you to avoid falls, and hence fractures. Hydrotherapy also has a good effect, especially to accelerate the healing of existing fractures. Patients take vitamin D3 and calcium supplements. I believe that we should not forget about medical and genetic counseling. After all, nowadays, it is almost always possible to reliably establish the presence or absence of defects in the genes responsible for certain aspects of collagen synthesis. Modern genetics allows for such a diagnosis even in the womb. After all, many children with a congenital form of osteogenesis imperfecta die in the first months and years of life from the consequences of multiple fractures and various complications. The late form of osteogenesis imperfecta proceeds more favorably, although it limits the quality of life. Will there be any cure for this disease in the future? I don't know, maybe. If science gets to the point where it will be possible to edit defects in genes in the early stages of embryonic development, then perhaps “crystal children” will no longer be born. But, in my opinion, in the near future, the advantage of symptomatic treatment will remain. I believe that someday there will be a way to eliminate this disease. In the meantime, I agree that prevention is better than cure.