Remember Charlie Gard, a baby boy with rare mitochondrial depletion syndrome? As a result of his illness, Charlie could not live without the help of medical equipment. The bad news is that the hospital has just decided to immediately remove Charlie Gard’s life support medical device, arguing that it has delayed Charlie’s death. What exactly is mitochondrial depletion syndrome? Indeed not many people know because this disease is very rare. In fact, medical information is very limited and the disease is also no cure.
In medicine, mitochondrial depletion syndrome is an extremely rare genetic condition. The disease attacks and causes brain tissues to rapidly and significantly lack mitochondrial DNA. The DNA is inside mitochondrial cells, organelles that can be found in almost every cell and have the function of respiration or respiratory and energy production. As a result, the disease causes progressively weakened muscles and damage to the brain. The condition causes sufferers to lack the energy to transfer to the muscles, kidneys, and brain. This syndrome is almost always fatal in both infants and children, although there are also some sufferers who can survive into adolescence.
Mitochondrial depletion syndrome is caused by a genetic mutation and symptoms begin to occur before the baby turns 1 year old. This also happened to Charlie, who was born on August 4, 2016. He was born in good health with a normal weight as well. However, just 1 month after birth, his parents realized that Charlie was not like a baby his age. He had difficulty lifting his head and could not sustain himself. In addition, Charlie’s weight also continues to shrink, he also can not cry or hear. After undergoing a detailed and in-depth examination, doctors finally diagnosed Charlie with mytochondrial depletion syndrome. This genetic disease is passed down through the genes of both parents. The team of doctors is also very careful to diagnose this. Charlie is one of only 16 people in the world to have experienced this rare condition.
In addition to muscle weakness and brain damage, mitochondrial depletion syndrome also has other symptoms such as a very slow way of thinking, reduced body movement, damage to hearing devices, and seizures. These symptoms are also followed by problems with blood glucose levels, persistent vomiting, and no development in infants aged 1 year.
Although there is no cure, there are several treatments that can reduce the symptoms. One of them is nucleoside bypass therapy. Experts say, theoretically this therapy could help re-synthesize mytochondrial DNA by providing natural compounds that can not be produced by the patient’s body. However, in Charlie’s case, doctors and experts are not sure the therapy can work, because Charlie’s condition is very severe.