The Family

The Family
For Christmas 2010

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Monday, August 17, 2009

Just How Faulty Are The Blueprints?

After taking the measurements for the LHR, Dr. Ball, he also informed us about the increased likelihood for additional complications if there were any additional anomalies or abnormalities.

Imagine if you will, blueprints for a house. They give a carpenter details on what a house should look like. They are usually many pages and give floor by floor and room by room instructions on how to build that house.

DNA works in much the same way. When a child is conceived, the DNA from the dad and the DNA from the mom combine to form a physical blue print for how that child’s body should develop.

Imagine next, the carpenter skips building part of the inside of the house because he either missed or misread a page of the blueprints.

This is basically what happened in our son's case. For some reason, his body skipped or misread the part of his DNA that told it to completely form his diaphragm.

Now you can see that if the carpenter missed or misread a part of the blueprints, it becomes likely that other parts may have been missed or misread as well.

So it is with congenital diaphragmatic hernias. While the majority of CDH are isolated (meaning no additional problems), there are a large number of instances of additional birth defects and/or chromosomal abnormalities occurring in fetuses with CDH as well.

As such, Dr. Ball recommended an amniocentesis to check for any chromosomal abnormalities. We consented.

Dr. Ball told us that we would have the results back in two weeks, the same day of our next appointment.

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