Rare Disease Report

Pope and Trump Support Rare Disease Family Fighting Life Support Court Battle

JULY 03, 2017
RDR Staff
Charlie is a young boy with mitochondrial DNA depletion syndrome. He was born healthy but soon thereafter, began to deteriorate and is now on life support at Great Ormond Street Hospital for Children in London, England.

For several months, the hospital has wanted to remove Charlie from life support. Charlie's parents, Chris Gard and Connie Yates, want the hospital to release the child into their custody so they can take him to the United States for an experimental treatment. After numerous court battles between the hospital and the parents, last week the European Court of Human Rights ruled that the hospital can discontinue life support.

Mitochondrial DNA depletions syndrome is a group rare genetic disorders in which there is a reduction of mitochondrial DNA copies. There are currently no approved treatments for these conditions and in most cases, the children progress in a similar manner that Charlie did (being born healthy then quickly deteriorating as muscle strength declines).
Soon after learning of his condition, his parents set up a crowdfunding site to help finance the experimental treatment they heard about in United States. According to their gofundme site:

“Charlies condition is caused by a disruption in the mitochondria, the part of the cell that provides energy to his muscles, kidneys and brain. There is a new treatment available which is a nucleoside bypass therapy, which could potentially repair Charlie's mtDNA and help it synthase again by giving him the naturally occurring compounds that his body isn't able to produce. It's oral medication so nothing invasive or harmful.”
Our research has not determined what that nucleoside bypass therapy is, where it would be conducted, or which doctor gave the information to Charlie’s parents.
And while the odds are severely stacked against Charlie being able to benefit from this treatment at this point, the parents still want to have control on when and where Charlie passes away.
To that end, Pope Francis and Donald Trump have expressed their support for Charlie’s Parents.
Per the Vatican: "The Holy Father follows with affection and emotion the case of little Charlie Gard and expresses his own closeness to his parents. For them he prays, hoping that their desire to accompany and care for their own child to the end is not ignored."

Image from Connie Yates GoFundMe site.

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