Sunday, January 19, 2014

Its been a while - genetic testing results

So my life has just been hectic.  The holidays were crazy, and we went basically 3 weeks with no therapy for Joel.   Those 3 weeks were really hard.  He needs constant direction, stimulous, sensory input.  God forbid I have to leave him to his own devices for say 10 minutes to do something, he starts going crazy.  I can literally see his body start to shake and I know its starting.   Thank God over this past year i've been able to pick up on his cues, and most days I can re-direct him into a perferred activity and it will ground him.  Right now that includes but is not limited to dancing, playdoh, coloring, painting, running, squishes, joint compressions, spinning, singing songs like hokey pokey, ring around the rosey, wheels on the bus, ect.  things that involve movement.  Granted there are times where I do all of the above and it doesnt change his state.  Sometimes he just needs to let it out.. and go crazy so to speak.  I've come to accept that as hard as it is.  It breaks my heart to see him like that.  Just so unregulated, and so unbalanced.  We went for our re-check apt at childrens a few weeks ago.  His dr. was happy with this progress.  He's talking soo much now!  hes also officially 2.. the tantrums have started and the past few weeks have been just awful.  God forbid I tell him no, or say he cant have something, stage 5 melt down.  I'm learning just to let him have his space and when hes being more reasonable to try and talk about it with him.  I'm also learning that I'm a pushover, a mush, and really need to hold strong when i say no. These kids, including my 12m old daughter play me like a violin!   Between the 2 of them, their a handful.  I was in a big of a slump over the holidays, but thankfully now that their over, I'm over my pity party!  ;o)   So back to Joel's Dr's apt... we did a blood draw that day for
genetic testing (which he did AMAZING!)  And I just got the results.. they came back saying a chromosomal micro array analysis revealed a variant of unknown significance. specifically the 922kb and 1.0 mb gain. (3 copies) at 6g27.   i obviously have no clue what that means.. might as well be Chinese to me..  all his Dr said was that we have to go see a geneticist.. and give blood to see if it was passed down, or new in him.. What I think it means is he has a duplicate copy of a chromosome.  His Dr. said that honestly their not sure what it means, but hopefully by his father and I giving our blood we'll get more answers.   Needless to say, its not what I wanted to hear.  I'm doing my best not to read to much into it.  To remind myself to just focus on the beautiful boy in front of me, not what some paper says about him.   (whether that paper is his diagnosis, or genetic testing)   I feel like its necessary to find out as much as possible at this point, to hopefully get some answers.  All this genetic stuff has been hard enough to deal with on its own, but in my head I cant stop thinking about my 6 frozen embryo's left over from Joel's IVF cycle.  Embryos that I have all intentions on donating to an adopting embryo adoption couple.   I started the process prior to Joel receiving his diagnosis, so none of his info is on any of the medical history.  I cant stop thinking about those 6 embryos.. and if any family will want them, knowing that Joel has autism.  Knowing that maybe it is genetic.  Could I just not update that information,  no.. I think the adopting couple deserves to know.  Will anyone want my embryos now?  I cant stop thinking of their fate.  I can never stop thinking of their fate, even prior to this.. its always in the back of my mind.  nothing has gone the way I planned..  If i could I would have them all.   Their my babies, my selfish desire to be a mom and have  a baby is what brought them here.  They are never far from my mind.  Whether its in searching for a couple to adopt them, or now with this genetic testing I question whether or not I made the right decision to hold on to them when they were matched with the last couple.. I just couldn't do it then, it didn't feel right.  I dont know if I'll ever feel like anyone is good enough to have them.  Its something I battle with.  But I always come to the same conclusion, that they deserve life.   At the very least a chance at it... even if not with me.   My new job as their mother is to find a way to give them that chance.  I'm still not ready for that.  I'll continue to pay the ridiculous storage fee to keep them frozen for the time being.  Hopefully someday I wont have as much on my plate and I'll be able to tackle it.   That time just isn't now.  It's never far from my mind, but I'll cross that bridge when I'm ready.   Right now the next bridge in my near future is pre-school!!!   Joel will be aging out of EI and building blocks in a few months, and in the next few weeks he has his evaluation with the pre-school, and also his re-eval with EI, to see how far hes come in the past year.  (I really cant wait to see those results!)   Granted its all due to him having so many services in place, but I'm TERRIFIED that the preschool is going to see how great hes doing and think he doesn't need anything as far as extra services.   Him having a diagnosis means nothing, and from what Ive been told they try to go against diagnosis's.. I'm assuming they don't want to pay for all the services required... but I'm terrified of all of Joel's services just stopping when he turns 3.  His birthday is in July, and there is a summer program, but its up in the air whether or not they'll take him in it or not.  Theres a lot that's up in the air right now and I'll just feel so much better when its settled.   I'm also dreading him aging out of EI... I love all his therapists... and am really going to miss them when hes done. I don't know how I would have made it through this year if not for some of them..   ::sigh::   one thing at a time I suppose!  I know I wanted to end things on a positive,  my favorite thing the past few weeks has been bed time.  (which normally is a nightmare)  But now that Joel can talk, we've been having some amazing conversations in bed.  I just love the stuff that comes out of his mouth!!  :o)   He melts my heart!  




































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