We had our appt with Dr. Aughton, the Pediatric Geneticist, this morning. We spent 90 mins there exactly. The first part was with his assistant, Cheryl, who went through Drew's history, my pregnancy and our families' histories. I found out something interesting about those from the Mediterranean, like me. There is a prevalency of some type of blood disorder (can't remember the name) that mimics anemia and iron deficiency. So, I guess I'll ask my Doctor to test for that too when I have my blood drawn at my appointment next week. Also, I got the questions about genetic testing during my pregnancy like 5 times. "So, you didn't have any genetic testing done?" "No alphafetalprotein? It's pretty common." "And no amnio? Nothing?" THAT'S RIGHT, NOTHING! And I won't with the next baby either.
The next part was the Dr's physical exam of Drew. He looked him over, trying to see if there were subtle differences that might lead him to a genetic conclusion for Drew's CHDs. We found out that a spot he has on his chest might be a third nipple and that his toes are a little webbed on one foot, but nothing indicative of Noonan or anything else. So, we're on to chromosome testing and had the blood drawn today for that (my little man is SO brave, he barely cried and it wasn't until the end) and we'll go back for an ultrasound on his belly to check for renal function/abnormality. If both of those come back with normal results - we'll know in about one month - then we might do something called a microarray, which is new in genetics and something I actually learned about this past weekend at the Conference.
So, that was the appointment. Now, we wait and see. In any case, I think Dr. Aughton is going to monitor Drew's growth, no matter what the tests say. He basically alluded to that. Also, we ran into Dr. Cutler and got to chat with her for a bit, which was nice. Also, last night we had noticed his chest tube scar seemed to pop out a bit, so we asked her to check it out. She thinks it's similar to a hernia because they placed the tube in his stomach, between his abdominal walls. SO, another thing to observe and hopefully, as he grows, it closes on its own.
I will be sure to keep you all posted on Drew's results!
15 years later
1 year ago
3 comments:
Wow, so I didn't realize microarrays had made it to the medical world (commonly at least). It is quite pricey and the human genome doesn't usually fit on one chip (depending on how you break up the genes). If you have any questions about that, we run them all the time.
Also, the disease he spoke to you about (more common in those w/ Mediterranean decent) is Thalassemia (here is a Wiki reference http://en.wikipedia.org/wiki/Thalassemia)
If you have any questions on that either, let me know and I will dig out my text books ;-)
Hugs on having to play the waiting game again!
I hate the waiting game! I did not get any of the genetic testing done with Mason and wont with a second baby either. Anyway, I'll be waiting with you.
Glad you saw the geneticist. Hope they figure something out, simply to know if there's anything else to watch out for. Interesting they're ruling out Noonan given how variable it is...
I'm smiling about how many times we have to answer the question about prenatal testing! We didn't test with either of our children and won't if we have a third. It wouldn't change anything for us so why take the risk.
Funny how medical professionals don't seem to get it!
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