Exploring the Futility of Care for Charlie Gard

Charlie was an 11 month old British boy who had a rare, inherited genetic condition called infantile onset encephalomyopathic mitochondrial DNA depletion syndrome (MDS). It is a progressive illness, which causes muscle weakness, loss of motor skills, and worsening brain function over time. Charlie was only the 16th person in the world to be diagnosed with his particular form of MDS.

In the Photo: Charlie relied on a ventilator to breathe, and a feeding tube to eat.
Photo Credit: @Charliesfight

During the last few months of his life, Charlie was dependent on a ventilator to breathe, a feeding tube to eat, and was unable to move his arms or legs. His disease had left him deaf and blind. He developed severe epilepsy, and his heart, liver, muscles, and kidneys were beginning to fail.

Specialists at the Great Ormond Street Hospital (GOSH) in London believed that there was no further treatment for Charlie that could help improve his condition, and advised his family that his life support should be discontinued. In their assessment, the underlying damage that Charlie had sustained was irreversible. The hospital suggested that Charlie’s health care team should instead focus on relieving any discomfort he might experience towards the end of his life.

Charlie’s parents, however, had discovered a novel treatment that they, along with one prominent physician, believed could potentially help improve his condition. They requested that his life support continue so that he could receive this experimental treatment.

Charlie’s parents and the hospital were unable to agree on a course of action, so his case was debated in British courts, and ultimately the European Court of Human Rights, for 5 months. During this time, Charlie’s family raised more than $1.7 million, in the hopes of traveling to the US to receive the experimental treatment. However, Charlie’s case was finally closed on July 24, 2017, when his parents agreed to discontinue his life support in light of new evidence that Charlie’s musculature had deteriorated too far for the treatment to be effective.

Prominent figures in world leadership publicly expressed their opinions on the Charlie Gard case, including President Trump and Pope Francis. Charlie and his family were even preemptively granted permanent resident status in the US by Congress to receive the experimental treatment. Harassment and death threats were wielded at both hospital physicians and Charlie’s parents by opponents on both sides. Yet underlying all of the public vitriol, it is clear that supporters of both parties wanted what they viewed as best for Charlie. They disagreed, however, on how to achieve this goal.

Charlie’s case, as with many ethically challenging cases before it, leaves us with more questions than answers. Was Charlie’s life support truly futile? Who should make this decision? Could Charlie’s outcome have been improved had the novel treatment been initiated sooner? Is it concerning that the physician offering to treat Charlie had financial interests in the medication that would have been used to treat Charlie?

Medical futility is a concept that is inexorably linked to goals of treatment, which are variable across patients and can change over time. A futile treatment can thus be defined as one that does not help a patient attain a specific goal. Goals can vary widely, and may include recovery to full health, a prior baseline, prolonging life long enough to attain an important goal, achieving a peaceful death, or any number of other goals, which are unique to each patient. Since goals of care are necessarily based in personal values, so too are futility judgments. Futility is usually determined based on physician perspectives of benefits and burdens of treatment. However, sometimes patients or family members weigh benefits and burdens differently than the providing physicians. This is what happened in the case of Charlie Gard.

Charlie’s treating physicians’ goal of care was to provide Charlie with a peaceful and comfortable death in the face of a tragic terminal illness. With little hope for benefit from an unproven experimental treatment, they believed that the burdens of prolonged invasive interventions, such as remaining on a ventilator and receiving tube feeds, while Charlie’s underlying condition continued to worsen, were simply too great. Charlie’s invasive treatments, they thought, could potentially have been causing him unnecessary suffering.

In the Photo: Charlie and his parents, Connie Yates and Chris Gard
Photo Credit: @Charliesfight

Charlie’s parents’ goal of care was to provide Charlie with any possible treatment, which would give him the “potential to be a normal, healthy little boy.” Understandably, they searched for any additional treatment that may have improved his condition. They discovered nucleoside therapy, a treatment which has been used with benefit in patients with less severe mitochondrial disease due to a different genetic mutation than Charlie’s. Nucleoside therapy for Charlie’s condition would have been experimental; it has not been tested in mice or humans with Charlie’s specific mutation and has never been used in patients with neurological impairment or seizures. The potential benefit of this treatment, they argued, outweighed the burdens of his life support, which they never perceived as causing him suffering.

Dr. Michio Hirano, a neurologist at New York’s Columbia University Medical Center who studies mitochondrial disease, was the sole physician who spoke publicly in defense of this experimental treatment for Charlie. His previous research, along with current unpublished data from other researchers, suggested to him that there could be up to a 10% chance of clinically meaningful improvement in Charlie’s muscular function, including muscles needed to breathe, with nucleoside therapy. However, by the time Dr. Hirano flew to London to review Charlie’s records and examine Charlie himself towards the end of July, it was too late. A scan of Charlie’s muscles showed that he had deteriorated too much for treatment to be beneficial.

Expert opinions differed as to whether nucleoside treatment would have been beneficial at all in Charlie’s case. In addition to GOSH physicians’ assessment that Charlie had already suffered irreversible neurological damage, specific concerns, such as whether the treatment would work in the context of Charlie’s specific genetic mutation and whether the nucleosides would have been able to cross from his blood into his brain, which was severely affected by his MDS, were hotly debated. Though invited to assess Charlie in January, Dr. Hirano only first arrived in July. Whether earlier treatment would have benefited Charlie is ultimately unknowable, however given Charlie’s severe neurological disease, the likelihood of any significant improvement was very small.

It is unfortunate, yet understandable, that this ethical dilemma was brought from Charlie’s bedside to the courts. It is unclear whether a clinical ethics committee was ever consulted to help the family and physicians potentially seek consensus. Clinical ethics committees are less common in the UK than in the USA. However, this may have prevented the case from being forced into a court system, which by its very nature, in addition to the complexity of this case, is time consuming. In general, legal intervention should be avoided in clinical ethics cases, as it can cause delays in treatment, or undermine the patient-doctor relationship.

It is reasonable, however, that the physicians pushed, as Charlie’s parents did, to have their opinions heard in court. Physicians have a duty to protect vulnerable populations, which includes the young and occasionally the elderly, who cannot make medical decisions for themselves. These populations often have surrogate decision makers, usually parents or family members, who make treatment decisions for them. Sometimes, a physician may feel that these treatment decisions are not in the best interest of the patient. Family members often feel that if they do not pursue all available treatments, that they are giving up on their loved one, ceasing to provide care, or may even feel partly responsible for their loved one’s death. However, deciding to pursue comfort care at the end of life need not always be seen as giving up. Rather, it may be a chance to focus on a different set of goals.

If even the slightest evidence existed that there was some benefit to nucleoside treatment for Charlie, before his condition had dramatically deteriorated, should the treatment have been expedited? Charlie could have been medically sedated to prevent him from experiencing unnecessary discomfort, and Charlie’s parents were able to fund and find a physician who was willing to administer the medication. However, treatment could not occur in a timely manner with the case being handled by the court system. There would also be additional legal battles to fight. The FDA, for example, would have had to give ”emergency approval” for Charlie’s experimental treatment.

If treatment were initiated for Charlie, it could have been viewed as a “time limited trial”, which is commonly used in patients with severe illness and a poor prognosis at the end of life. Clear clinical markers of improvement or deterioration would have been identified. Progress would have been measured and communicated to the family often. A time frame for re-evaluation of continuing treatment would have been negotiated, likely weeks to months in Charlie’s case. If treatment was not working, or Charlie’s condition dramatically worsened, then treatment would have been discontinued, given the real risk that Charlie could have been suffering all the while.

It is assumed that the family and medical team caring for Charlie was offered formal emotional support throughout this heart-wrenching case. Just as it must have been difficult for Charlie’s parents to watch as their baby failed to grow and develop normally, health care providers may have also found it emotionally and psychologically difficult to continue to provide care for Charlie, which they may have seen as causing unnecessary harm and suffering, day in and day out.

One more concerning matter remains to be discussed in this case: the conflict of interest that existed with Dr. Hirano’s testimony. It was discovered that he had had been providing written statements in support of Charlie’s parents, which was used as evidence in court, without ever having physically assessed or reviewed all of Charlie’s medical records. In addition, Dr. Hirano had a financial interest in some of the medications he proposed prescribing for Charlie. The Association of American Medical Colleges has published research on how financial interests can distort decision making.

When individuals stand to gain by reaching a particular conclusion, they tend to unconsciously and unintentionally weigh evidence in a biased fashion that favors that conclusion. Furthermore, the process of weighing evidence can happen beneath the individual’s level of awareness, such that a biased individual will sincerely claim objectivity.

Though potentially speaking out of a true desire to aid Charlie, Dr. Hirano was incompletely informed and a biased party, and may have been offering false hope to Charlie’s parents.

Charlie died surrounded by a family who loved him very deeply, and who fought hard for a treatment, which they believed offered a hope of improvement. Unfortunately, had Charlie received this treatment, the outcome would have in all likelihood been the same. Let us learn from Charlie’s case. Let us also be wary of throwing blame and hatred towards anyone involved in these difficult decisions. Everyone desires the best for patients, doctors and families alike.

Related articles: THE FUTURE OF BIOETHICS: ORGAN TRANSPLANTATION, GENETIC TESTING, AND EUTHANASIA by Ana Lita