Charlie Gard case
The Charlie Gard case was a best interests case in 2017 involving Charles Matthew William "Charlie" Gard, an infant boy from London, born with mitochondrial DNA depletion syndrome, a rare genetic disorder that causes progressive brain damage and muscle failure. MDDS has no treatment and usually causes death in infancy. The case became controversial because the medical team and parents disagreed about whether experimental treatment was in the best interests of the child.
In October 2016, Charlie was transferred to London's Great Ormond Street Hospital, a National Health Service children's hospital, because he was failing to thrive and his breathing was shallow. He was placed on mechanical ventilation and MDDS was diagnosed.
A neurologist in New York, Michio Hirano, who was working on an experimental treatment based on nucleoside supplementation with human MDDS patients, was contacted. He and GOSH agreed to proceed with the treatment, to be conducted at GOSH and paid for by the NHS. Hirano was invited to come to the hospital to examine Charlie but did not visit at that time. In January, after Charlie had seizures that caused brain damage, GOSH formed the view that further treatment was futile and might prolong suffering. They began discussions with the parents about ending life support and providing palliative care.
Charlie's parents still wanted to try the experimental treatment and raised funds for a transfer to a hospital in New York. In February 2017, GOSH asked the High Court to override the parents' decision, questioning the potential of nucleoside therapy to treat Charlie's condition. The British courts supported GOSH's position. The parents appealed the case to the Court of Appeal, the Supreme Court and the European Court of Human Rights. The decision of the court at first instance was upheld at each appeal.
In July 2017, after receiving a letter signed by several international practitioners defending the potential of the treatment and claiming to provide new evidence, GOSH applied to the High Court for a new hearing. Hirano visited Charlie at GOSH during the second hearing of the case at the request of the judge. After examining scans of Charlie's muscles, Hirano determined it was too late for the treatment to help Charlie and the parents agreed to the withdrawal of life support. GOSH maintained its position throughout that Charlie's condition had deteriorated by January to the extent that the proposed experimental treatment was futile.
The second hearing at the High Court, which had been arranged to hear and examine the new evidence then became concerned with the arrangements for the withdrawal of life support. On 27 July, by consent, Charlie was transferred to a hospice, mechanical ventilation was withdrawn, and he died the next day at the age of 11 months and 24 days.
The case attracted widespread attention in Britain and around the world, with expressions of concern and assistance offered by figures including then U.S. President Donald Trump and Pope Francis. At the time of Charlie's death, The Washington Post wrote that the case "became the embodiment of a passionate debate over his right to live or die, his parents' right to choose for their child and whether his doctors had an obligation to intervene in his care".
Treatment
Charles Matthew William Gard was born on 4 August 2016, at full term and normal weight, to Christopher Gard, a postman, and Constance Yates, a carer for young people with learning difficulties, both of Bedfont, west London. He seemed to develop normally at first, but his parents noticed after a few weeks that he was less able to lift his head, and they took him to his GP. On 2 October 2016, they reported that he was being breastfed every 2–3 hours but was not gaining weight. He was fed a high-calorie formula through a nasogastric tube, an ECG was carried out, and a cranial MRI scan was performed on 7 October.On 11 October, Charlie was taken to Great Ormond Street Hospital and put on a mechanical ventilator, because his breathing had become shallow. By November, the doctors suspected that he had mitochondrial DNA depletion syndrome, a set of rare diseases caused by mutations in genes essential for mitochondria to function. This diagnosis was confirmed by a genetic test in mid-November, which found that he had two mutated versions of the gene coding for the RRM2B protein.
The gene for RRM2B is in the cell nucleus; the protein it codes is necessary for generating nucleosides that are used to make deoxyribonucleic acid in mitochondria. The mitochondria fail in people lacking a functional version of this protein, causing brain damage, muscle weakness and organ failure, and usually leading to death during infancy. Only 15 other cases of MDDS caused by mutations in RRM2B have been recorded., there was only one experimental treatment for MDDS based on nucleoside supplementation, used on mice and human patients carrying a mutation in a different gene, which also impairs the synthesis of nucleosides in mitochondria causing a less severe form of MDDS.
The hospital's ethics committee advised in November 2016 that Charlie should not be given a tracheostomy. In mid-December, he began having persistent seizures as his brain function deteriorated. He had become deaf, his heart and kidneys were failing, and he could no longer breathe or move independently. It was unclear whether he could feel pain.
Experimental nucleoside treatment
In December 2016, Michio Hirano, chief of the Division of Neuromuscular Disorders at Columbia University Medical Center, and an attending neurologist at New York–Presbyterian Hospital, who had worked on nucleoside therapy in collaboration with researchers in Italy, Spain and Central America, administering the therapy to 18 human patients, was contacted.Charlie's records were sent electronically to Hirano on 30 December, and he and a member of the GOSH medical team discussed the case by telephone. Both doctors agreed that the experimental treatment was unlikely to help if there was irreversible brain damage. Hirano and the GOSH medical team continued to email and discuss the treatment by telephone. Hirano said there was a "theoretical possibility" that the treatment would provide some benefit, but that he needed a baseline MRI to rule out "severe brain involvement". An MRI was performed and seemed to show no structural damage to the brain.
On 9 January 2017, notes kept by GOSH doctors recorded that the team intended to attempt the nucleoside treatment at GOSH in the next few weeks. One of the doctors applied to the hospital's ethics committee for approval. A committee meeting was scheduled for 13 January, and Charlie was provisionally scheduled for a tracheostomy on 16 January. GOSH invited Hirano to examine him in January, but he did not examine Charlie until July.
On 9 or 10 January, Charlie began having epileptic seizures, which continued until 27 January. These were deemed likely to have caused epileptic encephalopathy, and the 13 January ethics committee meeting was postponed. On 13 January, the GOSH doctors informed Charlie's parents that the brain damage had made the experimental treatment futile, and in light of the risk that he was suffering, they withdrew their support for it.
Termination of life support proposed and opposed
GOSH began discussing with the parents the ending of life support and the provision of palliative care. By this time, relations between the parents and the doctors had deteriorated. One GOSH doctor emailed another: "Parents are spanner in the works. Recent deterioration with worsening seizures means trial is not in his best interests." The email emerged in the subsequent court case; the judge said that he understood the distress it had caused the parents, but that it was important to view the email in the context of notes passed between consultants about Charlie's best interests. The parents disagreed with the doctors at GOSH; they wanted to take him to New York to receive the nucleoside treatment.Reactions
On 30 January 2017, the parents launched an appeal on the crowdfunding website GoFundMe to finance experimental treatment in the United States. Donations had exceeded £1.3 million by the end of April.In June, immediately after the High Court had ruled that artificial life support should be withdrawn, the parents said that they wanted to take their son home to die or to bring him to a hospice, and that GOSH had denied this; the hospital would not comment due to Charlie's confidentiality. It was announced that his life support would be withdrawn on 30 June. The courts, and GOSH and its staff were subjected to criticism and abuse. On 30 June, the staff at the hospital agreed to give the parents more time with him.
Three days earlier, the appeal process finished when the European Court of Human Rights declined to hear the case and shortly after offers of assistance and expressions of support were made by U.S. President Donald Trump and Vice President Mike Pence. Congressmen Brad Wenstrup and Trent Franks announced that they intended to introduce legislation granting lawful permanent resident status in the U.S. to Charlie Gard and his family. "Our bill will support Charlie's parents' right to choose what is best for their son, by making Charlie a lawful permanent resident in the U.S. in order for him to receive treatments that could save his life. Should this little boy be ordered to die – because a third party, overriding the wishes of his parents, believes it can conclusively determine that immediate death is what is best for him?" Trump said the U.S. would be "delighted to help", Pence called Charlie's case "heartbreaking" and said that "the American people oughta reflect on the fact that for all the talk on the left about single-payer, that's where it takes us". The case was cited in the American press and social media as evidence in the debate there about the Administration's promise to repeal the Patient Protection and Affordable Care Act. Some commentators in the United States erroneously argued that Charlie's plight was the result of the UK having a state-run national health service and that the decision to withdraw Charlie's life support was driven by cost. In London Alasdair Seton-Marsden, who acted as a spokesman for the parents until they distanced themselves from him, was criticised for using parental rights rhetoric, calling Charlie "a prisoner of the state". Pro-life groups in the United States became involved in the controversy, with US groups demonstrating outside the London court.
The Vatican issued a statement on 2 July affirming that "we should never act with the deliberate intention to end a human life" but that "we must also accept the limits of medicine". Pope Francis expressed solidarity with the parents, and said that their wishes should be respected, and human life should be protected. The Pope's remarks were widely reported as evidence that the Pope had altered the Vatican's position. It was said that the Pope offered citizenship. On 6 July, New York–Presbyterian Hospital issued a statement offering either to admit Charlie for treatment in New York or to provide the drug and advice to GOSH staff for the treatment in London. In a letter that was made public, was presented to and rejected by the Court of Appeal and was sent to GOSH, Hirano and other doctors claimed to be able to provide new evidence to support the view that Charlie should be given nucleoside treatment. A few days after the European court ruling on 28 June, the parents' solicitor wrote to GOSH arguing that the hospital had a duty to apply for a new hearing. Two other hospitals were willing to offer treatment; the Vatican-owned Bambino Gesù Hospital in Rome, and Hirano's New York–Presbyterian Hospital. The letter said that Hirano had new basic research findings that he judged made it more likely that the nucleoside therapy could help. At no time did Hirano or the New York hospital claim or imply that it was necessary to send Charlie to the United States; the experimental treatment could be administered at the GOSH, subject to the agreement in London of the ethics committee and of the Food and Drug Administration in the United States. The ethics committee in London had declined consent and there is no public record of an application to the FDA being made. The parents said these expressions of support had given them new hope.
On 7 July 2017, GOSH made application for the case to return to the High Court. In a public statement, GOSH explained why it had applied: "Two international hospitals and their researchers have communicated to us as late as the last 24 hours that they have fresh evidence about their proposed experimental treatment. And we believe, in common with Charlie's parents, it is right to explore this evidence". The hospital stated it was bound by the previous ruling of the High Court, which expressly forbade them from transferring Charlie for nucleoside therapy anywhere, and the application was made to ask the Court to reconsider the case after weighing the evidence regarding the treatment, and specifically, its ability to cross the blood-brain barrier to treat Charlie's encephalopathy. In its application to the High Court for a second hearing GOSH said that the parents, through their solicitors "not for the first time raised the prospect of criminal proceedings against the hospital and its staff".