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Friday, March 16, 2007

Julia: Genetic Consultation

Yesterday was Julia's Genetic Consult at Children's in Boston.

Before I get in to how that went, let me please make note that I have survived another trip in to the hell that is driving in Boston. So, YAY me! Every trip too and from Children's reminds me of just how much of a "country" girl I am. Boston has too much of everything, first and foremost being people, followed closely by cars, buildings, traffic lights, and idiots that don't know the difference between a walk/don't walk signal.

Anyway, her appointment went well. They are testing her for, well, exactly what I'd figured they would be testing her for based on my own research: Noonan Syndrome and Fragile X. They are basing these tests on the following findings from her developmental pediatrician (who is also on staff at Children's) and the doctor who say her yesterday's own observations:

Fragile X Symptoms that are present in Julia:

Flat Feet
Large Head Circumference
Loose, Flexible Joints
Gross Motor Delay
Weakness in Conversational Abilities

Noonan's Syndrome Symptoms that are present in Julia:

Widely Spaced Eyes
Downslanting Eyes
Short Stature (below the 15th percentile)
Low Set Ears
Widely Spaced Nipples
Developmental Delay
Curly Hair

Of course, because nothing is ever clear cut (with my kids anyway) these symptoms could all mean absolutely nothing as well.

I am not really nervous about either thing but the Noonan's Syndrome thing is just slightly scary because most people with it have some sort of a congenital heart defect (that may not be discovered until something goes wrong). Obviously though, if it turns out that she has the Noonan's Syndrome, investigation of her heart by way of ultrasound and, perhaps an EKG would be in order. As far as I can tell, Fragile X seems to affect boys more severely than girls, and neither Noonan's or Fragile X appear to have any degenerative features (as in she is not out of the blue going to have more severe special needs etc).

The results will take between 2-3 months to come back.

I seem to be handling all of this remarkably well, for those who may be wondering. I think, sad to say, Emily's medical rollercoaster when she was first diagnosed with her "Tuberous Sclerosis-like" condition has prepared me well. The only really firm thought I have about any of this is that if Julia does come back with any kind of genetic abnormality, I will be pushing hard for the insurance to pay for Ryun and I to be tested. When they wouldn't pay for it when Emily was diagnosed, I pushed a little, but it was just one kid, and she was basically fine. Two kids though? I'm am thinking that it might be easier to convince them.

Julia, of course, because she is just about the most well behaved two year old ever (most of the time anyway) was perfect. She didn't even cry for the blood draw (although she made the "I am so gonna cry" look which just about breaks my heart everytime).

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