It's impossible to die: the story of Charlie Garda

Charlie Garde is a boy from the UK who has attracted international attention with his terminally deadly disease. Now his parents are trying to find experimental treatment, hoping that it will help their son to conquer a rare ailment - "DNA depletion", which usually causes the death of babies during the first few months of their life. But what caused this disease, and why it so quickly destroys the body of babies?

Diagnosis of the boy

Charlie was born on August 4 last year, but since October, remains on hospitalization in the London hospital Great Ormond Street. It is known that an 11-month-old boy can not breathe on his own, does not hear or see, and suffers from seizures. Parents want to go with him to the United States to begin experimental treatment, but the child's doctors disagree. They claim that the treatment will not save the child, but will only prolong his suffering. Experts who have been watching Charlie all this time say: the most humane thing they can do is to disconnect life support devices.

The Charlie case resumed discussion about the rights of parents to choose treatment for their children. The British courts were on the side of the hospital, as a result of which Charlie had to be disconnected from the vehicles as early as June 30. However, parents asked doctors to postpone this procedure in order to have more time to say goodbye to the child.

How is DNA depletion manifested

The encephalomyocytic mitochondrial DNA depletion syndrome that the boy suffers from is caused by mutations in the genes that help support the DNA found inside the mitochondria (cellular "power plants") that are responsible for converting nutrients into energy, and also have their own DNA set.

In the Charley case, the mutation occurred in a gene called RRM2B. He takes part in the creation of this mitochondrial DNA. The mutation causes a decrease in the amount of mitochondrial DNA, and also prevents the mitochondria from operating normally.

This condition affects the work of many organs, especially the brain, muscles and kidneys, which have high energy needs. As a result, the syndrome leads to muscle weakness, microcephaly (reduction in the size of the child's head), kidney problems, seizures and hearing loss. The weakness of the muscles involved in the process of breathing can be a serious problem, which happened with Charlie. Now the boy can not breathe on his own.

Life expectancy and spread in the world

This syndrome is extremely rare: until Charlie was aware of only 15 babies from around the world who had the same diagnosis as the boy.

Symptoms of the disease begin to manifest early enough. In the case of Charlie, for example, they began to manifest themselves when the boy was only a few weeks old. In addition, children who suffer from this condition are usually not able to survive the infant age. According to the 2008 survey, seven children with the same syndrome as Charlie died before they reached 4 months of age.

Unfortunately, this syndrome is incurable. The only thing that doctors can do is provide support for food or use a fan to help with breathing.

Should I hope for experimental treatment?

Charlie's parents want to try on their son an experimental treatment - a nucleoside therapy aimed at DNA materials that can not be produced by his cells. The effectiveness of this treatment has yet to be confirmed, although it was previously used for patients who suffered from a less severe form of the disease, known as the TK2 mutation. However, therapy has never been used for a patient with mutations of RRM2B. Even a doctor who was first ready to help Gardam with experimental treatment, was later forced to admit that this therapy is unlikely to cure Charlie as the child is in the late stages of the disease.

Recently, representatives of the children's hospital in Italy suggested moving Charlie to them to provide the necessary care for him, but doctors at the London hospital refused to do so, citing legal reasons. Boris Johnson, who is the Foreign Secretary of Great Britain, also stated that "this decision corresponds to an expert medical opinion supported by the courts", in the adoption of which the interests of the child were primarily taken into account.