Tuesday, November 22, 2011

Genetics Day

Yesterday brought us to the second major test that we've been waiting for.  The one that was delayed an extra month.  Overall, the appointment went well.  It was in fact, Sarah's best in that there was very little crying.  Only one stint where they wanted to weigh her and she simply didn't like that. 
We answered a whole bunch of questions that the nurse asked us, everything from my pregnancy history, miscarriages, to Sarah's development and growth. 

The genetics doctor was very gentle mannered and "nice" for lack of a better word.  Initially, his appearance of a mad scientist who just came out of the lab, had me a little worried but my fears were eased by his soft tone and spirit.  He again, asked us the same questions that the nurse did and the same questions I answered on paper before the meeting but whatever. 

I'd like to say at this point, I am grateful for Wendy (again) who came along to this appointment.  She took notes for me.  I am such a visual person and if it wasn't for her, I'm not sure how much I'd remember.

The doctor has requested some blood work for Sarah.  *sad*  He is going to test for three things, two of which he's pretty sure won't be the case.  They are common abnormalities and Sarah displays one or two symptoms of each but not enough to be 100% sure.  The third test will determine a possible chromosomal abnormality.  This will not tell us if her make-up is normal vs. not normal but rather it may possibly show an increase in one chromosome or a lack of another.  That could explain *maybe* why the delays are such, why she doesn't have much hair, the balance, lack of potty training... I don't exactly know.  We were warned that the first two tests Fragile X and Rhetts will take three months to get answers from and the chromosomal test will be nine months.  The doctor can't see any pattern in Sarah to confidently decide on a syndrome but is suspicious of some chromosomal issue.  One comment that he said that caught me off guard was that Sarah doesn't look like Doug or I.  I personally don't think any of my kids *look* like me but I was a little put out.  I have heard from many people who know us that Sarah DOES look like Doug, and even though the doctor is a professional, I'd rather take the opinions of my friends instead. 

So, all in all, the afternoon went well.  I finished it off with a cup of tea with my sister who had kept my older kids for the afternoon and then arrived home to the aroma of a roast in the slow cooker.  All I had to do was pull the meat apart and we ate.  I have to say, that was probably my best decision ever.  What a nice way to end the day! 

Thank you for praying my friends.  I appreciate you all. 

No comments:

Post a Comment


Related Posts with Thumbnails