Medical cases are often matters of life and death by definition, and cases involving children can become incredibly emotionally charged. Because of this, multiple media sources have pounced on the recent incident involving the young Charlie Gard at Great Ormond Street Hospital (GOSH), and much misinformation has been been distributed by the public as a result. The following is my attempt at clarifying the issue as much as possible from a purely objective standpoint for those interested in the case.
To begin with, what does Charlie have? At 10 months old, he is suffering from infantile onset encephalomyopathic mitochondrial DNA depletion syndrome (MDDS). It is key to note that this describes a group of diseases, which result from different genes becoming mutated, so Charlie has one particular variant. In his case, he has two mutant versions of the gene coding for the RRM2B protein, a ribonucleotide reductase enzyme required for the synthesis of DNA in his mitochondria - the ‘powerhouses of the cell’ if you recall your biology classes at school.
These mutations resulted in Charlie experiencing encephalopathy (a loose term for ‘brain disorder’), organ failure and muscle weakness, which affects his ability to breathe. It should also be noted that while cases of MDDS are very rare, there are multiple instances of Charlie’s variant known to medical science. As of writing, no treatments for any variant of MDDS have left the medical trial stage, and none of these have ever been tried on a patient with the RRM2B variant that Charlie has.
Charlie was initially brought to a GP because he was not gaining weight, and was then transferred to GOSH because of his difficulty breathing, wherein he was put on a mechanical ventilator. Following genetic screening his mutant genes were determined to be the cause of his symptoms. This occurred throughout October of 2016.
By January 2017, Charlie’s parents and his doctors had concluded that an experimental nucleoside therapy was the best treatment available. This treatment would deliver Charlie nucleosides, which are the precursors required to build DNA that his mitochondria cannot make for themselves. Ethical approval was compulsory for this treatment to go ahead, but Charlie had severe seizures while this was being sought. The doctors decided that because it was likely that Charlie would develop further brain damage after these, and at this point concluded that the experimental therapy would not improve his quality of life. At this point, the medical team began to discuss end-of-life care with Charlie’s parents and the idea of withdrawing life support so as not to prolong his suffering.
Charlie’s parents launched a GoFundMe campaign at the end of January, with a goal of £1.2 million to cover the costs of an experiment US treatment. By April this goal was reached, and after three months the total amount reached more than £1.3 million.
By 24th February 2017, GOSH applied to remove Charlie’s ventilation apparatus, which the parents challenged. This went to High Court, where Charlie’s interests were represented by an independent advocate appointed by the court. Justice Francis ruled that due to the very low chance of success in the therapy and the risk that Charlie was experiencing pain, the ventilator should be withdrawn. The US doctor who would provide the treatment said it was ‘very unlikely he (Charlie) would improve’. The proposed treatment had never been used in patients with the RRM2B MDDS variant Charlie has, and the treatment itself had received no published case studies at all, or indeed been used in patients with encephalopathy.
Charlie’s parents then took the case to the Court of Appeal, which refused to overturn the previous decision. The Supreme Court then followed suit, saying that there was no arguable point of law. His parents then appealed to the European Court of Human Rights, which was also rejected. Finally, they made the claim that they had wanted to bring Charlie home or to a hospice to die, but the hospital had not allowed them to do this. The hospital would not comment due to patient confidentiality, and this claim has not been independently verified as of writing.
It was decided that Charlie’s life support would be withdrawn on 30th June, at which point GOSH agreed to give his parents more time with him. A week later, GOSH took the case back to High Court, citing ‘claims of new evidence relating to potential treatment’. It was during this next hearing that the US doctor, Michio Hirano agreed to be publically identified, and Justice Francis ruled that he should be allowed to examine Charlie and speak to GOSH staff, after which Hirano would bring his report back to the court. During these first two weeks of July, the much-publicised offers for help from both the Vatican and US President Donald Trump were received.
Following this process, Hirano concluded after visiting Charlie that he saw no chance of the treatment working at all due to the extensive irreversible brain damage he had already suffered. He therefore withdrew his offer to perform the treatment, and Grant Armstrong QC, the barrister representing Charlie’s parents withdrew their challenge against the removal of Charlie’s ventilator. The prime goals of each party were as follows: Charlie’s parents wished to exhaust all possible options, so that any opportunity that might help Charlie had been taken, while Katie Gollop QC stated on behalf of GOSH that their view was the nucleoside treatment, if it worked at all, would leave him with no quality of life whatsoever.
Because of his condition, it is not possible to know whether Charlie was experiencing pain. He is deaf, blind, mute, and is incapable of movement. As of writing (24th July 2017) Charlie Gard will receive palliative care at GOSH and will die in hospital.