American couple whose son survived thanks to the therapy Charlie Gard’s parents are fighting for slam controversial court ruling
PARENTS of a tot who has a similar syndrome to Charlie Gard have admitted that they’re glad they don’t live in Britain in the wake of the controversial court ruling.
Arthur and Olga Estopinan believe that their six-year-old son Arturito “would surely be dead by now” if he wasn’t granted access to the treatment Charlie’s parents are fighting for.
Arturito has a similar mitochondrial depletion syndrome to Charlie and was the first person in the United States to receive the experimental and pioneering nucleoside therapy.
It’s the same therapy Charlie’s parents, Connie Yates and Chris Gard, are fighting for their son to receive.
Yesterday, a High Court judge agreed with doctors at Great Ormond St Hospital that Charlie should not have the treatment and should be allowed to “die with dignity”.
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Devastated Connie and Chris, who have raised over £1.2million for the US treatment, have vowed to fight on.
They’ve been in “constant contact” with Arturito’s parents - who today offered their support
Arthur, 51, a government consultant, said: "We feel very fortunate to be American and not British – because if we lived in the UK Arturito would surely be dead by now.
“We are beyond shocked that doctors in the UK are saying Charlie should ‘die with dignity’.
“How insensitive when there is a treatment which could save Charlie’s life and eminent doctors in the US who are willing to help him.”
Arthur and Olga feel strongly about Charlie’s cause because they were also told there was no treatment or cure for their son.
Like baby Charlie, Arturito seemed perfectly healthy when he was born in 2011, but his speech development began to stall at 14 months.
Although doctors initially thought the tot had flu, he was admitted to hospital and placed on a life-saving artificial ventilator when his condition deteriorated.
Medical experts delivered the devastating diagnosis that Arturito had TK2 mitochondrial DNA depletion syndrome, a rare genetic disease which causes muscle weakness.
What is mitochondrial DNA depletion syndrome?
Mitochondrial DNA depletion syndrome refers to a group of disorders that cause affected tissues to suffer from a significant drop in mitochondrial DNA.
The DNA is found in the mitochondria of cells – an organelle found in most cells in which respiration and energy production occur.
This means, as in Charlie’s case, that sufferers do not get energy to their muscles, kidneys and brain.
MDS is typically fatal in infancy and early childhood.
There is currently no cure but some treatments have shown a reduction in symptoms.
But Charlie’s type, known as RRM2B is even rarer - he is believed to be only the 16th known sufferer in the world.
Even though nucleoside treatment is an option, there are risks of the therapy as it’s yet to be tested on humans or animals suffering from the mitochondrial condition.
Doctors have also diagnosed Charlie with severe irreversible brain damage, which wouldn’t be reversed by the drugs.
As he is in the terminal stages of his illness a High Court judge agreed it would be “futile” and “not in Charlie’s best interests” to undergo nucleoside treatment.
Arturito’s dad disagrees with the ruling, remarking: “Olga and I didn’t believe it. Like Chris and Connie, we too desperately scoured the internet and eventually after stumbled across the nucleoside drug therapy.
“There was no guarantee it would work. But after being told by so many doctors there was nothing we could do at all, it was hope.
“We were also warned that these medications might cause side effects but as Arturito’s only alternative was death we didn’t see any harm in trying it.”
What is nucleoside bypass therapy?
Nucleoside bypass therapy is a new treatment that is taken as an oral medication.
It could theoretically have repaired Charlie’s mitochondrial DNA and helped it synthesise again by giving him the naturally occurring compounds his body isn’t able to produce.
A US expert said 18 people have been treated with nucleoside bypass therapy - including Arturito
But he added that none of them were in a condition as severe as Charlie’s.
The doctor, who cannot be identified, said treating Charlie was “clearly uncharted territory because no one has done this”.
Within days of meeting with a doctor, Arturito became the first person in the United States to have the therapy, and he’s since made important recovery steps.
His dad Arthur said: “We saw a difference in our son in just three months.
“Before the therapy he’d been unable to move his fingers or toes but after several months he could move his hands and feet.
“He was also more alert and awake. It was amazing to see our little boy coming back to us.
“There were no side effects either and after a year on the experimental medications he was well enough to come home.”
Business consultant Olga, 43, added: “Nobody can deny the miracle that is before our eyes.
"Arturito is able to communicate with shakes of his head and clicks of his tongue – which mean ‘I want more’.”
The Estopinans, from Baltimore, Maryland, said their son needs round-the-clock care from a team of nurses - but is growing stronger.
Arthur revealed: “He has a great life. We take him to the zoo, to Broadway shows, the beach and movies – and we see the joy on his face. He is also getting stronger.
“Arturio’s mouth muscles are stronger now so he can smile. He also tries to lift his arm which is amazing considering he was unable to move before the treatment.
“When we look at our son we know we definitely made the right decision.”
Remarking on Arturito’s remarkable recovery steps, Charlie's mum Connie believes “there is hope for Charlie too”.
The loving mum said: “There is no reason why this treatment should not work for those with RRM2B as well as it has with sufferers of TK2.
“This is why we have continued our fight. All we’ve ever wanted is the chance for Charlie to try these drugs - Charlie will die anyway so we have nothing to lose.
“Arthur and Olga have been a constant support and have given us the strength to carry on fighting for Charlie too.”