UK doctors are fighting for the life of a little girl who, according to them, is transformed before our eyes into the crystal. Code small British resident of Leeds, Emily Kemp, was 9 months old, the parents noticed a sharp decline in the child’s weight because of constant vomiting, and doctors have long puzzled over what happens to the baby.
After spending hundreds of tests, doctors still managed to make a diagnosis - cystinosis, a rare genetic metabolic disorder characterized by an abnormal accumulation of cystine in the body. This congenital disease that develops as a result of deficiency of the enzyme cystine reductase revealed nearly two thousand people on the planet. She expressed the slow crystallization of the internal organs, and eventually the whole body and are resistant to treatments.
Now the girl three years. Soon, a child waits for a kidney transplant operation that turned into solid crystals actually. But as they say, the trouble never comes alone: such a diagnosis doctors found her sister, whose half years.
The girls are under the careful supervision of specialists, they are given a variety of medications every six hours, and dropped into a special eye drops, otherwise the sensitivity of crystals in the cornea to light can cause blindness, nutrition nurses carried out through the gastric tube.