Wednesday, November 11, 2009

11.11.09 Genes vs. Jeans

Today Ellie, Andrew, and I had the pleasure of meeting Dr. Immken who is one of only 2 geneticists in the Central Texas region. Our consultation was basically a general discussion about Ellie's diagnosis of trisomy 21. She discussed common health conditions that may occur as a result of having an extra 21st chromosome as well as other conditions that she is at increased risk for as a result of family history. Ellie aced her physical exam and her cuteness exam.

According to a DS Growth Chart:
Weight: 10lb 3 oz (with clothes and diaper) or 95%
Length: 22. 5 inches or 95%
Head Circ: 36 cm or 55%

Dr. Immken said that Ellie was so cute that she should be on the DS calendar :-)

Here are a few genetic things that we learned from today's visit. Ellie is at increased risk for Autism. Anywhere from 7-10% of children with DS will also have autism. However, Ellie's risk is even higher due to have a relative with autism on her paternal side.

Ellie has a 10% risk for bipolar disorder not because of DS but because of a family history.

I will discuss other health conditions that she does not have but is at risk for all because of the extra 21st chromosome in the next post.

Prior to pregnancy, I did not have any increased risk for carrying a child with DS even though my paternal Aunt Peggy has DS. Trisomy 21 Down Syndrome is not genetic, but mosaicism Down Syndrome is. My risk matched that of the general population, which is 1 in 1050 for women under 35. That being said, if Andrew and I were to have additional children, the chances of us having another child with DS is now 1:100 and will increase if we conceive after I am 35 years of age.

Anyway, none of this was a big surprise to us and we are very happy that Ellie didn't need to have blood drawn or be poked & prodded.

Remember, % this, % that, 1 in whatever. . . these are all just numbers. Just numbers.

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