Charlie Gard: key questions answered
What is wrong with Charlie Gard?
Charlie has a very rare mitochondrial disease caused by a genetic defect inherited from his parents. The official diagnosis is infantile onset encephalomyopathic mitochondrial DNA depletion syndrome, referred to generally as “MDDS”.
What is mitochondrial disease?
Mitochondria supply energy to the cells in the human body. Mitochondrial failure leads to cellular injury and cell death. When multiple cells fail, the body’s organs are damaged and shut down. These diseases are usually fatal and kill children, although sometimes they don’t show up until adulthood. Where they don’t kill, they cause serious permanent brain damage.
What is the damage to Charlie?
Charlie is in intensive care at Great Ormond Street hospital in London, the leading children’s hospital in the UK. Life support machines are keeping him alive. The hospital says that he has severe brain damage, cannot move or breathe by himself, is deaf and has epilepsy. It says his heart, liver and kidneys are also affected. His eyelids cannot stay open and because of the weakness of the muscles, his eyes point in different directions and the damage to the brain will not allow his sight to develop.
However, Charlie’s mother, Connie Yates, said on BBC 4’s Today programme that her son is responsive, enjoying tickles and watching videos with his parents. She also said that she had yet to see proof that her son had irreversible brain damage.
Why did the hospital go to the courts?
Charlie’s doctors say his condition is incurable and that his quality of life is poor. They say nobody can know whether he is suffering pain. Under these circumstances, and believing treatment to be futile, they would not want to prolong his life. They went to court because they could not come to an agreement with Charlie’s parents to turn off the machines keeping Charlie alive.
The high court, appeal court and the European court of human rights in Strasbourg all agreed that to prolong Charlie’s life risked causing him further suffering and gave permission for the hospital to switch off the life support systems. They said that further treatment would not help him.
What is the treatment Charlie’s parents want to try?
A doctor in the United States has offered the baby nucleoside therapy, which is an experimental drug treatment that has not been tested even in mice for the disease Charlie has. The doctor has been supported by others from the Bambino Gesù paediatric hospital’s neurosciences department in the Vatican – they wrote a joint letter to the hospital last week appealing for Great Ormond Street to rethink its decision not to treat Charlie further.
They say there is new evidence that the treatment could help the baby. They say that tests in mice and patients with a different mitochondrial condition have shown “dramatic clinical improvements”.
What do the Great Ormond Street doctors think of this treatment?
They say they considered this treatment at the end of last year, when Charlie’s mother Connie Yates found out about it online and raised it with them. In a statement last month, the hospital said it actually applied for ethical permission to try the experimental drug on Charlie, even though it had never been used before on a patient with his condition.
“By the time that decision was made, Charlie’s condition had greatly worsened and the view was that his epileptic encephalopathy was such that his brain damage was severe and irreversible that treatment was potentially painful but incapable of achieving anything positive for him,” said the hospital.
What has changed?
Nothing has changed in the opinion of the experts at Great Ormond Street. But the international and public pressure, including comments from the Pope and Donald Trump, have led the hospital to go back to the high court. Great Ormond Street’s lawyers are asking the court to consider whether there is new evidence that nucleoside therapy might help Charlie, and if so whether he should receive the experimental drug.
What effect could the treatment have on Charlie?
It is impossible to say, but nobody thinks it can reverse the brain damage that has already occurred. That includes the doctor in the US who has offered the experimental treatment. The implication is that it might only prevent further deterioration.