Blue Genes

"When the going gets weird, the weird turn pro." -Hunter S. Thompson

This quote has been a personal mantra for me for many years. Why be normal when life on on the outskirts is always more vibrant? We remained in true gonzo form yesterday at the geneticist's office. Miles' doesn't have your standard trisomy 21. Nope, he has a rare form in which his second 21st chromosome is actually doubled. When you look at his karotype results, you see a single pair for 21, but one of the pair is doubled in length. What does this mean? I am still researching the topic, and I am struggling through all the genetic mumble-jumble. I topped out with the Punnet square in high school. Yes, I can accurately determine what color the geranium will be, but I cannot decipher Miles' condition. Jesse and I will now have our blood tested to see if either of us are carriers of extra genetic material. Chances are slim, but this could mean that Miles' trisomy 21 resulted from one his 'rents having too much DNA. If that is the case, any future child would also develop trisomy 21. If either Jesse and I are positive, there are no physical consequences for us- no negative effects on our phenotypes. However, that bonus DNA will harm our offspring. This, like I said earlier, is very rare and not likely the situation. We are going ahead with our personal genetic screening because we would love to have more children. However, if pregnancy comes with guaranteed trisomy 21, the that price is too high. The geneticist cautioned us from getting tested, but we assured her that we are only testing out of curiosity. Our results will have no impact on our care for Miles. He will always be our top priority. We also know that our results will result in no change of his condition. Regardless of how he developed trisomy 21, he still has Down Syndrome.

On the much brighter side, the new doc said Miles is doing great. He looks and sounds wonderful. His growth is right on schedule. We are going back in 6 months to monitor his progress.