Saturday, April 9, 2011

Not Fair

So we went to see the new geneticist this past Wednesday. He was incredible! He saw us for FREE first of all, which was totally unexpected. When we first got there him and his counselor took us into a huge conference room and started asking family history, and Lucca's past medical history and he examined him a little bit. Then he got right into the genetics part of it. He pulled out a chromosome chart and all Lucca's results and started telling us that the piece that was duplicated on 10 was attatched to the bottom of 22 and we were like whhatt?? hold on what did you say?! ... ............................................................................................................................. --recap to previous doctor and results interpretation-- Lucca's bloodwork results say that there is a duplication on his chromosomes 1 and 10 and a deletion on 22. Lucca's last genetic doctor told us that the deletion on 22 confirms that he has Phelan-McDermid Syndrome, and that the duplications on 1 and 10 were so small that they weren't of any concern and didn't cause any genetic disabilities. ............................................................................................................................. --back to new visit-- So ACTUALLY what is going on (which we had NO idea until now) is that the duplicated part of 10 is attached to the bottom part of 22 where the deleted piece used to be. Which in turn is called an Unbalanced Translocation..meaning that either Randy or I carry the Balanced Translocation. Alot of Mumbo-jumbo right? Yah had he not shown us a chart explaining what these terms meant we never would have understood. I will try to explain to the best I can without having the chart.. Basically one of us (Randy or I) have normal chromosomes. The other one , in one set of the chromosomes involving 10 and 22 the bottom segments are switched. So one of the 10th chromosomes has a piece of 22 on the bottom and 22 has the piece of 10, but because they equally switched places nothing was deleted or duplicated so they are called a "balanced translocation". In Lucca's case, instead of the two pieces switching places, the deleted peice off of 22 is completely deleted, it never made it over to the bottom on 10.. So the piece of 10 is on the bottom of 22 but 22 isnt on the bottom of 10 so it is called "Unbalanced Translocation". Which is where the problems arise. So not only does Lucca have the issues involved with having "Phelan-McDermid Syndrome" this little piece of 10 that we didn't know about throws things all outta wack in terms of what we knew to expect with his development. This extra piece of 10 is called "partial trisomy 10". SO he has two chromosome things going on. We were blown away by this visit. The doctor was incredible and gave us SO much information, and he was in complete shock that we knew none of this because he said it basically said it right there in the results , in medical terms of course, but that the other doctor SHOULD have known and just failed to tell us this PRETTY IMPORTANT piece of information.. So we were pretty upset about that to say the least.. but it sucked too because we asked him what to expect with Lucca's future and he told us that because of the way his genes/chromosomes are set up and situated and the he is missing the entire SHANK 3 gene on 22 (which controls learning, memory, speech, etc in the brain) that we would be very lucky if he was ever able to communicate with us verbally, that hopefully he would be able to walk, and that independent living for Lucca was completely out of the question. He will need constant taking care of for the rest of his life. And he /children with this syndrome are severely intellectually disabled. Some of this (the talking and walking, behind some) we kinda knew.. But hearing it put into perspective from someone who was putting it dead honest and not sugar coating it, but still sympathetic with us at the same time was like a blow to the face. With one of us having the balanced translocation means if we were to have another child that there would be a 50% chance they would have the same type of translocation as Lucca or the opposite, with 22 on the bottom of 10 and that could be even worse. So basically we can't have anymore children, which I am just extremely bummed about more than words can say.. Secondly, my ONE and ONLY child is going to have to deal with all these issues his entire life?! Why my son? He didn't do anything wrong!? It sucks big time, and I felt like I was at the point where I was starting to accept his condition and after hearing all of that I got knocked right back to where I was when I first found out he had Phelan-McDermid. I have never been so depressed in my life. Im not mad for MY sake that Lucca has all this going on, Im mad for his sake, its not fair to HIM. And now knowing that it came from one of us makes it even harder... I know that I need to keep faith in God, and I do.. it just sucks and its not fair. It makes me so mad that there are freaking degenerates running around out there doing drugs and being pregnant at the same time, with no jobs, that have 10 babies by different baby daddies and are getting free food and clothes and everything handed to them and all their babies are perfectly healthy and walking and talking, etc. And most of the time the parents could care less about them! It makes me so freaking mad! Ugh! Sorry for this rant and vent session but I needed to get it out and I'm sorry if it offends anyone but its how I feel. I do feel blessed that I was chosen to be Lucca's mom, and I love him more than anything in the world. He is my WHOLE world.. I just wish he didn't have to go through this.. that's all.

1 comment:

Miranda said...

Praying for you girly! I think about ya'll everyday!