Wednesday, November 10, 2010

Just when you think....

Just a little recap of what has been going on...

We have been waiting for Lucca's "specific" bloodwork results to come back which were supposed to tell us (and the doctor of course) exactly where the "additional piece of material" was attaced on Lucca's 22nd chromosome... so we have been waiting..and waiting...and waiting... we were originally told they would take about a month....when that month was up, we were told another week... that was last week. So.. like any worried mother would do, I called to check on the status of the bloodwork, to which I was told "it isnt back yet". To which I said "Man I can't believe this has taken almost 2 months to come back..." and the response I got.." Um Maam, 2 months is not that long of a wait, we have stuff that takes even longer to get back so I can assure you that you have not waited that long.." OOOOHHHH I almost BLEW up!! I so had to catch myself and breeeeathe.. Anyway, after that lovely conversation on Monday, the nurse called me Tuesday to let me know the results had come in and that she was going to fax them to the genetic Dr. I asked her if she could tell me the results and she told me she couldn't over the phone...Later that day she called and told me that I could call Dr. Perszyk's office and they would be able to tell me the results...NOPE, they said the same thing.. So today after work, I took it upon myself to go up to Nemours in PERSON so they couldn't tell me no.. I left with results in hand.. :)
Now that I know Dr. Perszyk has them, I am just waiting for him to call me and explain them and hopefully what it entails, because I can't understand all that jibberish talk. The part I CAN understand and that is plain as day is the diagnosis... It is all kinda strange and that is why I cant wait for the doctor to call because I don't know if these are Lucca's results or not, but some things about it make me think it is....so HURRY UP AND CALL ME DR PERSZYK!! PLEASE!!
Anyway, the diagnosis says that Lucca actually has a deletion on 22, not a duplication like the original said, and wait...that's not the only thing going on like we thought...he also has a duplication on the 1st chromosome AND a duplication on the 10th! Really..really?! it also says that because of these type of results that it most likely came from one of the parents, so basically right now I feel like, great...its because of me that my son is having to go through and deal with this.. because of mine or Randy's defective genes, he is going to have to struggle.. I kinda hope that they got this bloodwork mixed up with someone elses because all of this just blows my mind! The reason I don't think it is mixed up is because the area where it says he has the deletion (22q13.3) is the EXACT area where the 1st test said he had the extra piece of material... I am really trying not to read into this and jump to conclusions, I am just so scared and how can you help but not think the worst? I also have a feeling that they are going to do another bloodtest... *sigh* Just when you think the test you are waiting on is going to give you all the answers, it only gets more complicated... I just really hope all of this doesn't mean anything worse for my little Lucca Man.

1 comment:

Schauss Family Happenings said...

The genetics...one thing I have learned is that it doesn't necessarily mean this happened becuz of you or your hubby's genes. In the case of 22q13, 75%+ were just fluke accidents...most were NOT family genetics. Don't beat yourself up! Jeff and I are currently getting tested to see if either of us had a balanced translocation...meaning we passed the gene to Ashlyn. If we test positive, our son will be tested for the same balanced translocation. Most of the families have 2-3 normal chilren and 1 child with the deletion. Very few families have had the same gene show up multiple times in the same family. I would recommend you and your husband getting tested just to be sure...but statistic would say...chances are it was a denovo (both parent have normal genes)!