Charlie Gard case

 

Charlie Gard

(born 4 August 2016) is a British boy with a rare genetic condition known as a mitochondrial DNA depletion syndrome. While receiving treatment at Great Ormond Street Hospital, decisions about his care were taken to various law courts, where a ruling was made that the hospital could lawfully withdraw all treatment save for palliative care. This went against the wishes of his parents, Chris Gard and Connie Yates from Bedfont, London. They campaigned to keep him alive on life support and travel to the United States for experimental treatment despite doctors and judges saying it would not help and would cause him "significant harm".[1]

Medical background
Further information: mitochondrial DNA depletion syndrome

Charlie Gard was born on 4 August 2016 to Chris Gard and Connie Yates of Bedfont, London. He initially began developing normally, but by early October his parents brought him to their general practitioner (GP) because they were concerned that he was not gaining weight. On 11 October, he was taken to Great Ormond Street Hospital and put on a mechanical ventilator because he was having trouble breathing. The diagnosis of a mitochondrial DNA depletion syndrome (MDDS) was suspected by the end of October and was confirmed by a genetic test in mid-November that found he had two mutated versions of the gene coding for the RRM2B protein. MDDS are a group of diseases caused by mutations that disrupt the DNA synthesis in mitochondria. By mid-December, he began having persistent seizures as his brain function deteriorated, he had become deaf, and he had no ability to breathe or move or open his eyes on his own. His heart and kidneys were starting to fail as well, and it was not clear if he could experience pain or not.[2]

The MDDS associated with RR2MB mutations causes early onset encephalopathy, muscle weakness (including muscles used to breathe), and organ failure, and leads to death during infancy.[3] It has autosomal recessive inheritance. Although the exact prevalence of this type of MDDS is unknown due to its rarity, at least 15 other cases have been recorded in medical literature.[4] As of April 2017, there were only experimental treatments for MDDS; these had been used only a few times with little evidence of efficacy, and had not been tried with anyone who had the RR2MB variant of the disease.[2][3][5]

By January 2017, the parents and medical team had decided to attempt an experimental therapy with nucleosides (the precursors of DNA that the child cannot synthesise), but while the medical team was in the process of applying for ethical approval to do so, the child had a further round of severe seizures. Due to the development of likely severe epileptic encephalopathy secondary to these, doctors withdrew their support for attempting the experimental therapy as they felt that it would not be in his best interests, and began discussions with the parents about withdrawing life support and providing palliative care.[2]
Litigation

On 24 February 2017, the hospital applied for mechanical ventilation to be withdrawn, but his parents Gard and Yates were opposed to this, and wanted to take the child to the United States for an experimental treatment. The case was heard at the High Court with a legal team representing the parents pro bono.[6] On 11 April, Mr Justice Francis ruled that it was in the infant's best interests for his treating clinicians to withdraw mechanical ventilation and provide him with palliative care only, maintaining his dignity.[2][6][7] The judge noted that the US doctor proposing the nucleoside treatment said that it was "very unlikely that he will improve" with the proposed experimental therapy. He also noted that the treatment proposed had not been used in patients with the same mutation as Charlie Gard, nor with patients with encephalopathy, as he had. There have been no published case studies of the proposed treatment in any patient group.[2]

The Court of Appeal, on 25 May, refused to overturn the decision of the lower court in its ruling.[8] A panel of three justices at the Supreme Court refused permission to appeal from this decision, on the grounds that there was not an arguable point of law.[9] A final appeal was made to the European Court of Human Rights by Gard and Yates. This was also rejected.[10] In June, Gard and Yates said that they wanted to take him home to die or bring him to a hospice and that the hospital had denied this; the hospital would not comment due to patient confidentiality. It was later announced that his life support would be withdrawn on 30 June.[11][12] On 30 June, the staff at the hospital agreed to give Gard and Yates more time with him.[13]

On 7 July, the hospital applied to the High Court for a fresh hearing, citing that this was "in light of claims of new evidence relating to potential treatment", referring to possible new evidence on the benefit of nucleoside treatment.[14] On 10 July, at a preliminary hearing, Mr Justice Francis made plans for a further full-day hearing on 13 July, asking the parents to set out any new evidence they had on the day before.[15]

Hearings took place on 13 and 14 July, and in the latter hearing the US doctor, Michio Hirano of Columbia University, agreed to be identified, and the judge ruled that Hirano could evaluate the child and consult with the hospital staff; the judge said he would issue a new ruling on 25 July, after he had received and reviewed Hirano's report.[16][17]
Further reactions

At the end of January 2017, the parents launched an appeal on a crowdfunding website GoFundMe, seeking £1.2million to finance experimental treatment in the US. Just over two months later, their target was achieved.[18] By the end of April, before the appeal had run for three months, the total amount donated exceeded £1.3 million.[19]

In the first two weeks of July 2017, offers of assistance were made by the Vatican-owned Bambino Gesù Hospital in Rome, Italy,[20] Pope Francis,[21] US President Donald Trump,[21] and two Republican US congressmen.[22] On 19 July, the House Committee on Appropriations in the United States House of Representatives was reported to have approved an amendment that would allow Gard and his family to have a faster route to permanent residence status in the US. It would only become law if the controversial proposed bill it was attached to was passed in Congress which included funding for President Trump's extension of the Mexico–United States barrier