The case of a terminally ill infant in the United Kingdom has drawn attention from both President Donald Trump and Pope Francis.
It also has experts weighing in on the complex ethics of treating a gravely ill infant.
Charlie Gard is just 11 months old and so sick he has been sedated and is on a ventilator.
Charlie has been diagnosed with RRM2B-related mitochondrial DNA depletion syndrome.
The genetic disease is so rare that Charlie may be just the 16th confirmed case of the disease, according to the National Institutes of Health (NIH).
The infant’s case made headlines after his parents attempted to raise funds to bring Charlie to the United States for experimental treatment not approved by his doctors in the United Kingdom.
The case has also cast an international spotlight on the complex ethical dilemmas faced by medical practitioners, family members, and sometimes court officials when treating a deadly disease with no proven cure.
The death of the cell’s battery
The genetic condition affects Charlie’s mitochondria, kind of like the “batteries” that power nearly all human cells.
There are different forms of mitochondrial disease, but essentially they involve some genetic condition that causes an error in the mitochondrial function.
The disease can cause issues with cells getting enough energy to work properly.
As Charlie’s condition causes the mitochondria to be depleted over time, it can cause a host of issues in an infant body, which needs that energy to grow.
The fallout can include brain damage, muscle weakness, and difficulty breathing, according to the NIH.
Children diagnosed with Charlie’s specific condition are expected only to survive into their early childhood.
Dr. Shawn McCandless, the chief of the Pediatric Genetics Division at UH Cleveland Medical Center, said there is little that doctors can do for patients with mitochondrial disease aside from prescribing certain vitamins and antioxidants to try and slow the deterioration.
“You can't produce energy effectively, McCandless told Healthline. “[As a result, you] start to lose control of regulated cell death because it’s dependent on normal mitochondrial function.”
Vatican, White House get involved
While the family raised more than 1.3 million pounds for treatment, Charlie’s doctors felt — and later a U.K. court ruled — that it would be in the child’s “best interests” if the hospital is allowed to withdraw life support rather than transfer the infant to the United States.
That decision was again upheld by the European Court of Human Rights last month. According to U.K. court documents, this decision was made in part because there is no proven treatment that can effectively treat the disease, especially due to Charlie’s brain damage. Experts said the infant would likely be in continued pain.
Earlier this month President Donald Trump and Pope Francis weighed in, bringing more attention to the family.
Trump tweeted, “If we can help little #CharlieGard, as per our friends in the U.K. and the Pope, we would be delighted to do so.”
The pope’s spokesperson also reportedly said on the radio that the Pope was following the case. Later, a children’s hospital in Italy run by the Vatican said it would take in the infant for treatment.
Yesterday, a family spokesperson released a statement to U.K. media saying the family had been in touch with the White House.
Ethicists say that these emotional cases can put families and medical staff at odds despite the best intentions.
Dr. Maggie Moon, a member of the Johns Hopkins Hospital Ethics Committee, and professor at the Johns Hopkins Berman Institute of Bioethics, said she thinks it’s key for families to understand that at some point new treatments may be futile and do more harm than good.
“It’s the situation in which the therapeutic options [don't] match the therapeutic goals,” Moon told Healthline.
She said it’s common in these emotionally charged cases that the medical team’s goals and the family’s goals may no longer align, despite everyone wanting the best for the patient.
For parents of children with rare or terminal illnesses “they will try anything that may possibly help ... it's one way to express the love for your child,” Moon said. “To say I will not give up.”
For the medical team, they have to weigh the potential benefits of treatment with the harms that come with treatment. Moon said the situation can be fraught with conflict, especially in the United Kingdom, where medical care is largely paid for by the state.
“They're looking at [a] child with irreversible brain damage,” Moon said. They’re coming from a place of duty as a part of the state and medical community to “protect the interest of the child.”
“The medical institution is seeing futility because no matter what they try next it will likely cause suffering with no anticipated benefit for this child” said Moon.
U.S. vs. U.K. health system
Art Caplan, PhD, and bioethicist at the NYU Langone Medical Center, said the case also highlights differences in the U.K. and U.S. approach to medicine.
“In the U.K., there’s more deference to doctors’ opinions,” he said. “The U.S. is more patient oriented.”
Hospitals have ethics committees that decide if an experimental treatment is ethical to pursue.
However, he explained, if patients push for a course of treatment approved at another hospital and can afford it, usually they’ll be allowed to transfer.
“In the U.S., the limiting factor for parents with a child like this is money,” Caplan said.
McCandless said in the United States there are “philosophical differences” that would make it less likely for a court to intervene and stop treatment for a patient like Charlie.
“We have a very strong belief that parents should make decisions for their child,” barring an extreme situation, McCandless said. “We generally will not intervene and the courts will not intervene.”
In court documents, Charlie’s family reportedly wanted to come to the United States to pursue nucleoside therapy, which is still experimental.
Other patients with mitochondrial depletion disease had been treated with this therapy, but they’d had a different form of the disease than Charlie, according to the court documents.
The doctor in the United States, who had been contacted by the family and was unnamed in documents, said that after further reviewing Charlie’s case he found the infant to be “so severely affected” by brain damage “that any attempt at therapy would be futile.”
However, the doctor also made it clear that if Charlie made it to the United States he would still “treat him if the parents so desired and could pay for it.”