We had been expecting the final results by now but it hasn't been in the forefront of our minds. Today it was on my mind for some reason. Well in true Logan fashion, we couldn't get clear cut results. I was expecting normal results as this has been the pattern thus far.
Instead the genetic counselor said a variant was found on Logan's X chromosome. It was reported by the lab as a variant of unspecified significance. This variant is known to cause developmental delays and cognitive impairment. The kicker is, within this variant is a mutation. Logan's mutation has never been reported before.
So what does this mean? Who the heck knows! I have a feeling it is just an incidental finding but I could be wrong. The genetic counselor was giving me the raw data considering the results had just arrived yesterday. Logan's geneticist has not had a chance to interpret the results. So the counselor and doctor plan to do some research and get back to me next week. The counselor did say that the variant found does not cause degenerative disorders and that is why she is skeptical of the findings. For those who don't know, Logan's brain is degenerating.
So we wait and trust me, it isn't easy. Answers won't fix Logan but they may give us a better understanding of what is going on. I am glad I didn't push for the name of the variant, otherwise I would be all over the internet right now! In the meantime, we will spend a wonderful thanksgiving with family as we have so much to be thankful for!
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