We are now several weeks into waiting for the results of Darcy's genetic testing, with another several weeks to go... Darc has been on the slow end of development, and has extremely low muscle tone and flexible joints, which are characteristics that are often associated with Down's Syndrome. After a few weeks of physical therapy, her therapist pulled us aside to tell us she should have some genetic testing done. She didn't say immediately what she was concerned about, so I called our doctor friend Matt, who told me about the link between low muscle tone and Down's Syndrome. I figured that was impossible b/c she didn't look like she had Downs, but he said it can often go undetected. So I called the therapist back and asked her about it, and she admitted that, yes, she was concerned about that. Downs occurs when the cells have an extra 21st chromosome. Usually this happens right away and therefore all the cells have the extra chromosome. However, sometimes there is a mutation that occurs in the first several cell divisions, and in that case, only the cells coming from the mutated cell has the extra chromosome. This is called Mosaic b/c the cell lines are different (some normal and some affected), like the pieces of a mosaic. We do know for certain that Darc does not have full blown Downs. However, it will be several weeks before we know about mosaic. And if she does have it, we have no idea what % of her cells would be affected - it could be 6% or it could be 96%. Regardless, she cannot be very severe b/c she is not delayed in her speech, which is usually one of the most common delays. She has also fooled us and her doctors for almost 2 years, so it is definitely not something that is obvious.
Anyway, the whole point of writing this is to say that Darcy is the sweetest, most lovable little girl in the whole world. While at first we were obviously upset at the possibility, now we are more than ok with it. She is our baby, no matter what. We have a lot of love for our little sweetie pies and nothing is going to change that. She is fun-loving, cute, cuddly, and determined. If she wants something that Gwen has, she pulls Gwen's hair until she gets it : ) She could pet our dog Marley all day. I don't know where I"m going with this - not really anywhere. I just felt like before we got her test results back, I want it documented that Lance and I love her with all our hearts. While we really want to know what the results are, it is mostly so we can start moving on. We're not scared for us, b/c we know with certainty that we will be ok. But the uncertainty that goes along with all this speculating it what is killing us.
So, for a few more weeks we are still waiting...
