Wednesday, September 9, 2009

A Visit with our Geneticist



Thanks to my mom for this life saving device! Jaiders (who doesn't like anything but being held) loves this bouncy seat! Finally, some relief in my day! The first time I put her in it, she couldn't stop laughing!



Jaiders really looks like me when I was a baby in this bottom pic. I'll have to post a side x side comparison (eventually).



The pics don't really have anything to do with this post other than the fact that they were taken on the same day as her appointment.

Yesterday we had another visit with our geneticist. We believe that Jaidin has a particular syndrome, but until officially confirmed, I am not going to "start any fires" by going into it. We are somewhat confident however, that she has this certain syndrome. All of the pieces and all of her symptoms seem to keep pointing to it.

Anyhoo, we had a Genomic Microarray U-array Chip test performed on Jaidin a little while ago. This test identifies DNA copy number gains and losses associated with chromosomal imbalances. (It basically looked over her DNA & chromosomes to see if there were any missing or duplicated chromosomes in her DNA).

We are happy to report that her test came back normal!! Yay! BUT- this test only looks for duplicates or deletions; it does not detect changes in the DNA strand. Basically- if you have a sentence, this test will detect if there are any missing or duplicated words; but, it cannot tell if the words are mixed up or written in the wrong order. So, we are now going to get the test that will detect any dna mix-ups. We are also going to do some specific chromosome testing, as we think we know what syndrome we are dealing with.

We need to get some of these tests pre-approved by our insurance before they are performed, but as always, updates will follow.....