What is his condition?
Charlie’s condition is exceptionally rare. He suffers from an inherited mitochondrial disease called infantile onset encephalomyopathic mitochondrial DNA depletion syndrome, referred to generally as “MDDS”. Charlie suffers specifically from the RRM2B mutation of MDDS.
Charlie’s brain, muscle and ability to breathe are all severely affected. In addition, Charlie has congenital deafness and a severe epilepsy disorder. Charlie's heart, liver and kidneys are also affected.
Charlie has severe progressive muscle weakness and cannot move his arms or legs or breathe unaided.
Charlie's eyelids cannot stay open and his eyes point in different directions because of muscular weakness. Charlie’s retina would struggle to develop and his brainwaves suggest that he is not going to be able to lay down normal visual patterns that should be learned at an early age. Eyesight is not something you’re born with, it develops over time.
Why is there no treatment available at GOSH?
There is no cure for Charlie’s condition which is terminal. GOSH explored various treatment options, including nucleoside therapy, the experimental treatment that one hospital in the US has agreed to offer now that the parents have the funds to cover the cost of such treatment.
GOSH concluded that the experimental treatment, which is not designed to be curative, would not improve Charlie’s quality of life.
How did GOSH come to this decision about his treatment?
GOSH’s clinicians had to balance whether this experimental treatment was in his best interests or not.
One of the factors that influenced this decision was that Charlie’s brain was shown to be extensively damaged at a cellular level. The clinician in the US who is offering the treatment agrees that the experimental treatment will not reverse the brain damage that has already occurred.
The entire highly experienced UK team, all those who provided second opinions and the consultant instructed by the parents all agreed that further treatment would be futile – meaning it would be pointless or of no effective benefit
What can you tell us about Charlie’s care?
While we cannot discuss confidential information about Charlie’s care, any child who is as unwell as Charlie will receive round the clock care from a team of highly experienced and specialised nurses, doctors and other health professionals.
Care for children who are ventilated, as Charlie is, might include suctioning to take out extra fluid when a child is not able to cough for themselves, having their vital signs constantly monitored, regularly turning a child to try to prevent pressure sores if they are unable to move independently and trying to ensure a child’s skin is in optimal condition even though they are constantly connected to a ventilator.
In his High Court ruling, 11 April 2017, Mr Justice Francis said: “Charlie has been served by the most experienced and sophisticated team that our excellent hospitals can offer.”
In the Court of Appeal ruling, 25 May 2017, Lady Justice King said: “Charlie and his parents have the benefit of being treated at not only the centre of excellence that is Great Ormond Street Hospital, but of his having been under the care of a world-leading expert on mitochondrial disorders. I would wish to acknowledge the skill and care given to Charlie by the doctors and nurses at Great Ormond Street.”