I've been wary about wading into this topic but I think the focus needs to be on the quality of life rather than anything else.
The important thing first is to understand what the condition actually is. Mitochondria are essentially the 'engine' of the cell, basically its main role is to extract energy from nutrients through respiration, and convert it into heat, or store it as adenosine triphosphate (ATP), the energy currency of cells. Mitochondria also have other roles such as chemical signaling, the regulation of cell growth, cell division, and cell death.
Mitochondrial Depletion Syndrome is caused by a mutation in the TK2 gene, which provides instructions in creating an enzyme that is involved in the production and maintenance of mitochondrial DNA (mtDNA). Specifically, this enzyme plays an important role in recycling nucleotides, (the 'building blocks' of mtDNA) so that errors in mtDNA sequencing can be repaired and new mtDNA molecules can be produced. Because of this mitochondrial levels in muscle cells of people with the condition are massively reduced, ranging from anywhere between 5% to 30% of normal. This leads to the patient being put on life support in most cases because there simply isn't enough APT being produced to power the heart to beat or the diaphragm to contract.
While there are treatments available now such as triggering mitochondrial biogenesis to increase the amount of mitochondria in a cell therefore increasing production of ATP the important question is how much of an improvement are you realistically looking at. If ,for example, the best case scenario ends up with him growing up still attached to life support in a state little better than locked in syndrome, being aware of your surroundings but barely able to move a finger a couple of millimeters every once in a while, is that what you would consider to be a life worth living?
Now I am the first to admit that I'm not a doctor or a specialist in the treatments for this condition but neither are the media outlets that have been reporting on this. Just saying there is a treatment with a 10% or 20% success rate gives the impression to a lot of people that it is either a complete cure when successful or will restore full quality of life with a constant regime. As much as people have been saying that the doctors involved in the case are heartless I can't help but wonder if this is a case of the doctors looking at the evidence and seeing just how little an improvement the treatment is likely to give if successful as opposed to just taking the easy route and wanting to see the child 'put out of their misery' as it were.
