On March 20, we got our results from the FISH test. Down Syndrome. It was like hearing the news all over again. I cried again, this time it didn't feel as horrible as the first. When the geneticist called, she told me the news and paused as if I was supposed to act really upset. I don't think she already knew my world was turned upside down. I txted all of my friends and family to let them know. Everyone had the same reaction like I was telling them for the first time. I didn't sleep that night either. I couldn't believe looking at the ultrasound, that the picture perfect profile little girl had down syndrome.
March 27, I had gotten a call again from the geneticist. I figured she was just going to tell me they grew the amniotic fluid and that it did confirm again down syndrome. It caught me a little off guard when she said do you have time to sit and talk. I went into our room and closed the door so I would have no distractions. She started off by saying after they grew the cells, it is confirmed again that your baby girl has down syndrome. But what I am calling to tell you is that your baby has a very rare type of down syndrome. We were able to get 16 cells and of those 16, 11 of the cells have the extra chromosome 21. The other 5 cells are perfectly normal. She then told us that this type of down syndrome is completely a fluke. That sometime during the embryonic period, the cell decided to make a third copy. If you were to get pregnant again the chance of this happening again would be less than 1%. She told me that she didn't know much about mosaic down syndrome, and didn't even know if she had met anyone who had a child with it.
After that phone call I decided to do my own research and message as many moms as I knew on instagram who had a child with down syndrome to find out what type they had. Turns out no one. No one knew of anyone who had it. I had other moms messaging me of how envious they were that that was the type my baby had. I still didn't feel any better. I looked up google images to see if I could find out if mosaic down syndrome looked any different than normal down syndrome. Turns out they do. Most of them look like "normal" little kids. I had a couple of moms tell me that because it is mosaic, they still have a lot of the same health problems that come with down syndrome, but maybe not as severe. It all depends on what parts of the body are effected. There is no way to know that parts are effected unless you took blood or some type of sample from every part of the body. After looking up the hashtag mosaic down syndrome, I found a total of three moms who have kids that have this type. I messaged one to find out what her experience with it was. Her daughter didn't look down syndrome, but she did tell me she still has delays. She took longer to walk, to talk, to crawl etc. I then asked her if her baby had low muscle tone, like most kids with downs do. She told me that only in the beginning but told me it wasn't bad at all.
We have no way of knowing how our baby will be. Its almost frustrating in that sense. She could look fully down syndrome and not have all the handicaps that come with it. She may look totally "normal" and still have all the handicaps. Its just another waiting game. But after hearing a few people talk about it, my fears have turned into excitement. We are getting such a rare baby. It almost feels like i've been struck by lightning, or won the lottery. I know god doesn't make mistakes, and that he knows just what he is doing by sending us our baby girl. But I will save that part for another post.
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