Maryz The April judgement from the High Court sets out the evidence from that time in real detail - I found these parts particularly heart rendering but I think really informative as to the evidence even back then - apologies for length.
"55. Professor A is one of the leading experts in the world with a special interest in mitochondrial diseases. She has written approaching 140 scientific articles and book chapters about mitochondrial disease and, yet, even with twenty-five years' experience and an internationally recognised expertise, she told the court that she has only been involved with six paediatric cases including Charlie and only three of these had infantile onset. Tragically, Charlie has infantile onset RRM2B deficiency which is the most severe form.
56. Professor A first because aware of Charlie's case on Tuesday, 25th October 2016. Although mitochondrial disease was already strongly suspected, investigations were carried out including blood and urine tests, a series of genetic investigations and muscle biopsy. The amount of mitochondrial DNA was determined in the muscle biopsy and reveals that Charlie had just 6% of the levels found in age matched, healthy, controlled subjects. Professor A's clear opinion is that this level will have progressively reduced since then. The definition of MDDS is having less than 35% of controlled levels indicating that 6% is very low and this enabled Professor A and her team to diagnose Charlie as having MDDS.
57. In mid-November 2016, Charlie had a genetic test known as Rapid Genome Sequencing. This was carried out as part of a research project and is not generally available on the NHS, but it shows the biallelic RRM2B mutations and these were subsequently confirmed by the NHS molecular genetics laboratory at the Oxford University Hospital NHS Foundation Trust. Accordingly, there is no doubt about Charlie's diagnosis.
58. The court has also been assisted by the written and oral evidence of Dr. B, who is employed as a Consultant Paediatric Intensivist on the Paediatric and Neonatal Intensive Care Unit at Great Ormond Street Hospital. He has been in his post since February 2004. He described Charlie's severe symptoms as follows:
a) Progressive respiratory failure
Charlie has been ventilator dependent since presentation at the Great Ormond Street Hospital and this has progressed so severely that he now has no spontaneous respiratory effect. In other words, he is kept alive by the ventilator.
b) Hypotonia/Myopathy
Charlie has progressive weakness of his muscles including his breathing muscles leading to his progressive respiratory failure. He can no longer move his arms or legs and he is not consistently able to open his eyes enough to be able to see. Indeed, this leads to the difficulty that his brain is failing to learn to see. He cannot react in terms of reaching for fingers or other objects. He cannot grasp them.
c) Brain Activity
Dr. B confirmed that, whilst Charlie is not brain dead, he is persistently encephalopathic. In other words, there are no usual signs of normal brain activities such as responsiveness, interaction or crying. Dr. B confirmed that this is supported by repeated electrical tests in the form of EEGs.
d) Bilateral profound sensorineural hearing loss
Charlie is deaf as part of this underlying condition.
e) Persistently elevated lactate
This is, I was told, the characteristic feature of mitochondrial disease. It was indeed the strongest pointer to this diagnosis in Charlie when he first came to Great Ormond Street. Charlie suffers also from acute mitochondrial crises."