The Harnisch Family

The Harnisch Family

Jan 20, 2010

Macy's Genetic Test results

Many people have inquired about Macy's specific diagnosis, so I thought I would go ahead and share some of the detailed information we learned from the genetic testing performed by UNMC's Munroe Meyer Institute. FISH Cytogenetics Report.

As you know, we learned shortly after Macy was born (about 10 to 15 minutes after), that she may have Down Syndrome. The doctors and nurses were quick to point out several physical characteristics that supported their theory. Between you and me, I would have appreciated it if they would have, of course, waited for Joe to get back in the room before starting to fill me in on this. (You see, Joe had left the room for no more than 30 seconds to simply share the exciting news of Macy's arrival with a few of our family members who were in the waiting area). Looking back, I do not understand why they would have wanted to break this sort of news to a new mom, without her VERY supportive and PRESENT husband right there WITH her?!? I know this was obviously an oversight on their part, but I still think it was strange & worth mentioning...

In any case, Through genetic testing, this diagnosis was confirmed by looking at the chromosomes found in Macy's blood cells which revealed an extra chromosone known as #21. If you look at the chromosomes in the average person's cells, you will find that each cell contains a total of 46 chromosomes. 23 pairs. The egg and sperm each contain 23 chromosomes, so when conception occurs, the fertilized egg will have 46 chromosomes. Individuals with Down Syndrome have 47 chromosomes. This extra chromosome is a third member of #21, and thus it is sometimes called "trisomy 21".
This misdivision is the result of an accident or chance event of the chromosome division process in the formation of the egg or sperm. There is nothing that could or should have been done to prevent this and there is nothing that we had done to have caused it. It was not our fault! :)
The specific type of Down Syndrome that Macy has, where there is a separate extra 21st chromosome is NOT an inherited type of Down Syndrome. The most common type (not the rare Mosaic DS or DS due to translocation). The risk of us, or anyone else in our family having a child with Down Syndrome is not increased above the risks of the general population based on their age.

(full disclosure warning: in an effort for me to be most accurate, some of the above information is slightly "plagiarized" from a letter we had received from UNMC's Dr. Bruce Buehler.)

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