Saving Lydia
My son too has a unique and disabling mutation. As far as I know, he is the only person with this mutation, but there are more people with a mutation in the same region of the gene, that are affected in the same way.The problem with some mutations like this, is that they have an effect on the development of the brain from the start of the development and that fixing the gene (or better its RNA transscription) will not undo that development. The results of IQ tests seems to indicate that with my sons mutation, there is a problem with the myelination in his brain. Myeliniation is a process that starts before birth and continues into adolescent. At the moment he is quite happy and functioning well within his limits. His 'academic' IQ is rather low, but in some areas, he surpases the average person by far. He has a great sense of humor and people like him. In his case, I am really afraid what would happen if we would administer him a drug that would compensate for the genetic defect. Would he go through another fase of brain development and having to cope with all kinds of changes. Could he end up being less happy, because it would remove his ignorance about certain things. For example, at the moment he has no desire for a romantic relationship, but getting such a desire and than still not being able to satisfy it, could make him very unhappy.