The Geneticist

Normal male cell pattern is the above picture

So today was the day that we got to talk to the Geneticist so that she could explain how it happens. I say "we" because I brought my mom and the little man! Jared wishes he could of been there and I know he would of enjoyed the massive amounts of information she gave! It was actually quite interesting. There are three types of Down syndrome that baby J could have; Trisomy 21, Translocation, and Mosaicism. He more than likely has Trisomy 21 but it is possible that he has Mosaicism. It would require further testing to determine that and it is optional. Both Trisomy 21 and Mosaicism have the same exact physical, emotional, and medical treatment. Trisomy 21 cell pattern looks like this  







There is always an extra chromosome 21 on each cell within the body. Instead of 2 copies of chromosome 21 there are 3.. Guess that’s why it’s called "tri"! Mosaicism is a very rare form of Down syndrome, she said about 3 percent. It is similar to Trisomy 21 but instead of every cell having a third copy of chromosome 21 only some cells do. They have no way of telling what part of the human development Mosiacism would cause. Heart, brain, ect... It could vary greatly. In order to rule out Mosiacism they usually test around 30 cells, for some reason only 5 of his were tested. She plans on calling the lab that the test was done with to see if any further evaluation was done or if we would have to have new blood taken. All five of his cells that were tested showed the extra chromosome 21.

We can be extremely thankful that it is not translocation Down syndrome. The Geneticist was almost 100 percent positive it is not translocation because of the original lab results. In translocation the pattern of the cells would look much different than his do. Translocation is when that extra copy of chromosome 21 is attached to another chromosome; weird and complicated. Either parent can be a carrier of translocation and in turn have a child with Down syndrome as well as pass the gene on to their children. Portlynn and Maddalyn would of been at risk for being a carrier as well

So basically it is a fluke that Baby J was one of the lucky little guys to be born so special. There is absolutely no medical science that could prove why it happened. Neither Jared nor I fit the criteria for at risk. Just somewhere along the line something didn't divide right (look up cell division for Trisomy 21 if you want details). She said that is was something that happened before conception and they just haven't figured it out yet. In the future if Baby J ever needs lab work done I will ask that they draw extra blood to rule out Mosaicism to kill our curiosity. We will wait thought until he actually needs blood work done; no need to torture the little guy :)

Did I confuse you yet?

And now some picture from this morning :-)