For my work, I do a lot of file conversion, including converting Word documents to HTML for web viewing. When the file is converted, it frequently comes through with unwanted code, which I carefully parse out of the HTML file. Making even a small mistake with the code – accidentally deleting an end bracket, for example – can have a huge effect on the text of the document. DNA works much the same way, apparently – one small change can make great changes in how a body functions.
When we saw the specialist in NYC, she recommended testing for a particular rare condition called Posterior Column Ataxia with Retinitis Pigmentosa (PCARP). PCARP can cause sensory neuropathy, sensory ataxia, and RP. It is diagnosed with genetic testing – the disease is caused by mutations on a gene called FLVCR1. One of Gracie’s specialists recently tested her for this condition, and we got the results last week. Grace has a mutation of unknown significance on the shared DNA portions of the gene. Although this particular mutation has never before been reported, it’s more likely than not that her symptoms are caused by this one small error.
With my HTML files, I can just go back into the code and fix my error. The file will go back to the way it was supposed to be. With DNA, we don’t have that ability – yet. There is research underway about how to parse out bad DNA and fix the genetic code. This could offer hope to people like Gracie, who are beautiful and perfect but have coding errors. Hopefully someday, in our lifetimes, this technology will blossom.