Sunday, March 13, 2011

Answers....Well at least some..

So as we feel things may be slowing down, Aiden has one more follow up appt.  At this appt. I get the news that Aiden has Muscular Dystrophy.  I know this is a HUGE shocker. Dr. Walker, Aiden's sensory Dr had given us a blood test script back in December to get some Genetic tests done.  This was just to see if his Sensory/Cognitive Delays are genetic or just something that popped up in Aiden.  All this was gonna do was ease our minds, nothing could change it.  Dr. Walker also said this was Totally up to us if we wanted to get it big deal.  I know I may sound so calm, but trust me I am going Crazy inside. When we went to this follow up appt and Dr. Cockley told me this..I was dumbfounded. THIS was not even what they were looking for. Oh sorry I forgot to tell you why we decided to get the tests done.  We only got them done because after Aiden had his seizure..they wanted to make sure his levels were up from the we thought "What the hell, lets get the genetic blood work done". We had already decided back in December that we were not gonna get it done..why bother, it couldn't fix anything..We will love Aiden unconditionally anyway.  As Dr. Cockley tells me this, I was like "What, you need to back up a sec. " Then I say " Is this what they are diagnosing him with? " The dreaded answer "Yes is".  All I wanted to say was " are you kidding me".  Dr. Cockley knows me all too well, so he starts to look it up on his lap top and keeps saying " this is all worst case Nicole, do NOT go home and look this up".  We leave and Robbie and Noah are in the truck waiting..they did not come in because this was just a follow up..nothing big.  How do you tell your husband the father of your babies this crazy news without breaking down.  We went home and I called my sisters..I was starting to freak out.  I finally got ahold of Kristin and she calmed me a bit. She said " Nicole, this is good Finally have answers".  Dr. Cockley did say this is the reason he crawled late and walked late..Ding..Ding..Ding..THAT is right, it makes sense.  Muscular Dystrophy is low protein in the muscles.
   A few days later I am Finally able to talk to Dr. Walker who actually ordered the test.  It just didn't seem real until I talked to him.  I needed to hear it from him.  He was just as surprised to be reading what he was reading right in front of him.  Genetic testing can find anything, anything can pop up.  We never did find anything out about what his sensory and cognitive delays being genetic.  Dr. Walker said now in the next few months we will be seeing a good amount of specialists. Neurologist being the FIRST..he said that should be my next phone call, he has to know this.  In June will be our appt for the Genetic Dr.  He also told me that I am the carrier and that Noah needs to be tested now too.  Even though I feel our lives had been turned upside down before, this gives it a whole nother turn.
    So the reason I may sound so calm is I Truly feel things have happened for a reason this past few months.  IF Aiden would have never had a seizure..we would have NEVER gotten that genetic blood work done and we would not have found this diagnoses out..We feel that we have been dealing with all the side affects the past 7 yrs of his life..there are a lot of things that we have figured out and this was the missing piece..Finally...Our next few months will be crazy, but you know what, We can do this..We Can!!  I can Honestly say " I am a Strong Women" and I have AMAZING Family and Friends. Thank you All for your support and truly means so much.  Lots of Hugs and Smoochies