Doctors will help the children with the rare hereditary diseases, even those who have a diagnosis took months, if not years. Work will be high-level experts. At their disposal modern equipment, equipment for physical therapy and physical therapy. The first patient has already received.
Clutching her grandmother's hand, Gene steps carefully down the corridor. Each step — his big win. More recently, in his 4 years he could not even sit up. The child has spinal muscular atrophy. A rare genetic disorder in which the muscles are too relaxed.
According to various doctors boy drove a few years, but no one was able to put even a presumptive diagnosis. Thanks to the new Department of Medical Genetics at Children's Hospital in Genes and other children with rare metabolic diseases have a chance. All the patients here — a metabolic disorder at the genetic level, and as a consequence — a serious pathology. With each of which gives birth to one to several tens of thousands. Therefore, they are so hard to be diagnosed and treated with difficulty.
"Most of the calls are very serious diagnostic studies. General diseases has about 6,000. Government has approved 24 nosology — those diseases for which treatments are developed and there are medicines," — said the chief doctor of the Russian Children's Clinical Hospital Nikolai Vaganov.
This specialized unit — the first in Russia. Prior to this complex genetic diseases studied in academic centers, but never treated. Meanwhile, as the time is almost the most important factor. If the diagnosis is not established for a long time to understand what this disease is all the more difficult.
Artem with his mother came from Stavropol. In local hospitals put the boy epilepsy. Only here, in the new department of genetics, it became clear that the disease is only a consequence of disturbances in metabolism. Which — for almost a month trying to figure out specialists. Who is the main remedy Artem — a special diet. During treatment, he learned to eat on their own, without the help of droppers.
Nasty diagnosis while also questionable. The girl has broken speech and motor coordination. To each her little success in physical therapy is most happy mom.
The new branch is designed for 30 seats. Subspecialists and modern technology, allowing to carry out even complex operations such as bone marrow transplantation. In addition, each child, regardless of age, is with his mother.
"Mom helping to care for, only they can find a common language with the child," — says head of the department of medical genetics Svetlana Mikhailova.
It is planned that the Department of Medical Genetics, will be expanded. And every patient, even with good dynamics will remain in the general basis of the clinic. Behind him will be constantly monitors and specialists at the slightest complications immediately summoned for additional treatment.