A brief look at the medical issues in the Charlie Gard case
The 11-month-old is being treated at
Below is some background on the medical and legal issues behind Charlie's case:
WHAT IS MITOCHONDRIAL DISEASE?
Mitochondrial disease is the umbrella term for a number of rare conditions caused by genetic mutations that result in the failure of mitochondria, specialized compartments within most cells that supply the energy needed to sustain life and support organ function. When mitochondria fail, cells can be injured or die, causing organ systems to shut down. The brain, heart, muscles and lungs are most affected because they need the most energy.
Charlie suffers from a form of the disease known as infantile onset encephalomyopathic mitochondrial DNA depletion syndrome (MDDS.) It is specifically known as the RRM2B mutation of MDDS. There is no known cure.
WHAT IS THE TREATMENT HIS PARENTS WANT FOR CHARLIE?
Doctors in
However, the treatment has never been used on either mice or humans with the type of mitochondrial disease from which Charlie suffers, according to court documents.
WHAT IS AN INVESTIGATIONAL DRUG?
The treatment proposed for Charlie is still an "investigational drug," which means it hasn't gone through the formal approval process normally required by
HAS THE NUCLEOSIDE THERAPY BEEN USED BEFORE?
A boy named Arturito Estopinan in
"A lot of very smart doctors are unaware of these experimental medications," Estopinan said. "As a father, I cannot sit back and know that my son was saved and not be vocal in support of
A CRUEL DISEASE
"Mitochondrial diseases are cruel because they strike babies and young children, who rapidly deteriorate," Harding said. "It is because there is no cure that the scientific and medical community have concentrated on pre-conception mitochondrial therapy, and it has been an enormous advance that this is now licensed by the government. It allows parents with these mutations to have healthy children, though sadly, cannot help babies already born."
WHY IS IT UP TO THE COURTS AND NOT CHARLIE'S PARENTS
Parents in
Professor
"Sadly, reluctantly, doctors and judges are justified in concluding that continuing life support is not always helpful for a child and is in fact doing more harm than good," Wilkinson said. "Providing comfort, avoiding painful and unhelpful medical treatments, supporting the child and family for their remaining time: sometimes that is the best that we can do, and the only ethical course."
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