US U.S. Doctor Fueled Hopes of Ailing British Infant’s Parents

20:30  07 july  2017
20:30  07 july  2017 Source:   The New York Times

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Chris Gard and Connie Yates, Charlie’s parents, outside a London courthouse in April. An American neurologist has played a central and at times confusing role in court deliberations — veering from optimism to pessimism and back again.© Dan Kitwood/Getty Images Chris Gard and Connie Yates, Charlie’s parents, outside a London courthouse in April. An American neurologist has played a central and at times confusing role in court deliberations — veering from optimism to pessimism and back again.

LONDON — A neurologist in the United States has played a curious role in the high-profile case of Charlie Gard, the brain-damaged and terminally ill infant whose plight has drawn attention from Pope Francis and President Trump.

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Defying the consensus of numerous British doctors, the neurologist has kept alive the hopes of the child’s parents by promoting an experimental therapy that he pioneered — even though, when pressed, he conceded it was unlikely to succeed.

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The London hospital where the 11-month-old boy is being treated and the child’s appointed guardian have said there is no significant prospect of saving the boy, and they have been granted permission to turn off life support.

People gathered in London on Thursday to ask for continued medical treatment for Charlie Gard, an 11-month-old with a rare and debilitating genetic condition.© Ben Stansall/Agence France-Presse — Getty Images People gathered in London on Thursday to ask for continued medical treatment for Charlie Gard, an 11-month-old with a rare and debilitating genetic condition. The parents are convinced, however, that the American doctor’s therapy might help their son — even though it has never been tested on someone with Charlie’s particularly severe form of a rare and debilitating genetic condition.

“There’s further scientific research that this medication would work for Charlie,” the boy’s mother, Connie Yates, told ITV’s “Good Morning Britain” on Friday, without elaborating. “We are not bad parents. We are there for him all the time, we are completely devoted to him, and he’s not in pain and suffering.”

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Whether the boy is suffering is a main point of contention. “No one can be certain whether or not Charlie feels pain,” a judge found on April 11, ruling that it would be in the boy’s best interests “to let him slip away peacefully and not put him through more pain and suffering.”

An appellate court agreed, citing “unanimous professional and expert evidence that to move Charlie to America and expose him to treatment over there would be likely to expose him to continued pain, suffering and distress.”

A review of the extensive legal record in the case shows that the American neurologist played a central and at times confusing role in court deliberations — veering from optimism to pessimism and back again.

Courts have ordered journalists not to identify the neurologist, referred to in court papers only as Dr. I., nor to his affiliation.

Dr. I got involved in the case in late December, after the family of a Baltimore boy reached out to him on the British family’s behalf. That boy has a different, and less severe, form of Charlie’s disease: mitochondrial DNA depletion syndrome.

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The experimental treatment, known as nucleoside therapy, has been tested on mice and on 18 people with the TK2 mutation — including the Baltimore boy. But it has never been tried on someone with Charlie’s form of the syndrome, caused by a mutation in a gene called RRM2B.

When Charlie’s doctors asked for evidence that the therapy might help, Dr. I replied, “There is no direct evidence, but there is a theoretical scientific basis for saying it could.”

The hospital was open to the idea, but after Charlie suffered a series of epileptic seizures, doctors changed their minds, concluding on Jan. 13 that treatment would be futile.

Nonetheless, the parents began a campaign to raise money to take the boy to the United States. Soon after, both the hospital and the parents went to court, where Dr. I’s views were sought again.

In a March 23 letter, the neurologist said that he “cannot predict the outcome” of the treatment, but that there was a “scientific rationale that the treatment could potentially ameliorate RRM2B deficiency.”

However, after reviewing new brain-scan data a week later, Dr. I appeared to back down, telling the court that it “is very unlikely that he will improve with that therapy.” He acknowledged that the brain damage was most likely irreversible, but he did not rule out the possibility of some recovery, even if “vanishingly small.”

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The parents persisted, producing a new letter from the neurologist, dated May 22, in which he once again took an optimistic approach: “In the best-case scenario, Charlie’s condition would stabilize, improve partially or continue to improve with long-term therapy, as we have seen in patients with TK2. Ideally, the treatment will ameliorate the seizures and allow more normal brain functions.”

An appellate court was unconvinced.

Desperate parents “may lose their objectivity and be willing to ‘try anything,’ even if, when viewed objectively, their preferred option is not in a child’s best interests,” the court found on May 23.

Britain’s highest court concurred, as did the European Court of Human Rights in a ruling last week.

What happens now is unclear. On Thursday, NewYork-Presbyterian Hospital/Columbia University Medical Center reiterated an offer to treat the child, either as an inpatient in New York or by shipping the unapproved drug for the experimental treatment to the hospital in London.

Ms. Yates told ITV on Friday that five doctors who specialize in Charlie’s disease — two in England, one in Italy, one in Spain and one in the United States — said they believed the experimental treatment could work.

“There is potential for him to be a completely normal boy, but we don’t know, as you just don’t know until you try,” Ms. Yates said, without addressing the finding that the boy’s brain damage is irreversible.

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“There’s around a 10 percent chance of this working for Charlie,” she added. She did not explain how she had arrived at that estimate.

Claire Fenton-Glynn, a legal scholar at the University of Cambridge, said that the last-ditch offers of help were not legally relevant.

“The central issue in this case is not the availability of treatment — there has always been a U.S. hospital willing to treat him — but, rather, that the courts have determined it is not in Charlie’s best interest,” she said.

Ms. Yates disagrees. “I don’t understand it,” she told ITV. “Euthanasia is illegal. Suicide is illegal. How is this legal?”

Ms. Yates said that she had been preparing last week to say goodbye to Charlie, until “the White House sort of got involved over the weekend and that changed things.”

She had started preserving her son’s strands of hair and nail clippings.

“He was starting to look like a nutty professor, so I thought I’ve got to cut the sides — I wasn’t allowed to cut the top bit,” she said. “I got to keep his hair, as well. Just those little things I keep. It sounds ridiculous, but when I cut his nails I keep the clippings, in case it is the last time I cut them.”

Charlie Gard Case: American Doctor to Travel to London .
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