August 30, 2013

The blood is on its way!

   No, I do not have my computer fixed.  However, I do have a few spare minutes by an open computer to give you some fantastic news.  In the beginning of August we received a surprise phone call from our genetic counselor stating that Sadie was excepted by a reputable lab to have her genetic testing run for free.  Yes, FREE!  You heard me right, FREE!!!  I was silent on the phone at first (shocked) and then I started to ball my eyes out.  I could not even believe what I was hearing on the phone.  How?  Why?  Was I dreaming?  Someone pinch me!  I have worked so hard to get this testing approved for her, could this moment be real?
   The counselor waited for me to gather my emotions and then continued with all the information.  She explained how she got a random email out of the blue from a representative at this lab and it was in regards to getting tests run that insurance companies have previously denied.  She said that Sadie immediately popped into her head, but this sounded to good to be true.  So for "fun" she emailed this rep and asked for more details.  The rep returned her email stating all the information that they needed and based off of that information they would make a decision if she was a candidate for this program and let her know.  She started to gather all the info that was needed and submitted that day.  I don't know how long this whole process took because she didn't tell me any of this was going on just in case this plan fell through.  She didn't want to get my hopes up (I totally appreciated that).  The counselor had to submit Sadie's whole story.  What was wrong, what tests had been run, what we were looking for, what tests we wanted run, our insurance info, and much, much more.  Then she stated she waited patiently with fingers and toes crossed.
   The counselor stated she got the email late the night before and couldn't believe what she was reading.  Based on the information that was submitted, Sadie could have the exome sequencing genetic test and the mtDNA test done for FREE!!  $0!!  She wanted to call me right then and there, but she wanted to talk to the lab the next day to make sure that this was 100% legit and there was no way they could change their mind or price.  Nope!  What they quote is what they go with no matter what.  The counselor called me the same morning she double checked the quote from the lab.  She filled me in on the all the info and everything that had been going on behind the scenes.  I think she was just as excited as I was.  She then says to me "I hope you are not mad that I submitted all of Sadie's info without telling you".  I laughed and of course said "NO".  In fact, if it was appropriate I probably would have driven down to the office and given her a huge hug and kiss.
   However, it is just not as easy as going to the lab to have your blood drawn.  We had to make an appt with the genetics dr and the counselor because there is a very long consent form that has to be filled out and gone over in detail.  This past wednesday we finally had our appointment (almost a month after getting the good news).  It was a 2.5 hour appt!  Crazy, but worth it.  We then immediately went over to the lab and had the blood drawn before anyone could change their mind and cancel the test on us (which had been previously done to us).
   The blood is in route, if not has already arrived, at the lab that it was being sent out to.  Now we wait.  We wait for about 12-16 weeks for the results.  The test itself does not take that long to run, it is the results from that tests that take a while to go through and match up with disorders and look at her symptoms and see if they make sense.  I am totally anticipating the full 16 weeks because my gut says that Sadie is going to have many mutations in her genes causing many questions amongst the Dr's.  So Sadie's Christmas gift to us this year will be her genetic results.  We will have answers to questions that we have been asking ourselves and God for the past 2 years.  Although we may not want all the results and they may not be results that we were hoping for, and they may leave us asking more questions, they are still answers. 

August 24, 2013

Unwanted Hiatus

   I haven't blogged all month!  This has not been by my own choice.  There was a "ghost" (aka a small child that is approximately between the age of 4 to 6 yrs old) that visited my house and stepped on my lap top screen and shattered it.  It was not done on purpose, just an accident but no one really wants to claim the actual stepping upon the computer.  So that is why I have not written anything.  I attempted to blog on my phone and that was a TERRIBLE idea.  I have attempted to blog while on my lunch break at work, nope, that really didn't work so well.  So I have just been keeping a list of the many, many things that I want to share with everyone about the things going on with Chloe, Aubrie and Ms. Sadie Jo.  I'm REALLY hoping to have this issue resolved soon.  So please don't give up this blog.  I will be back soon.  PROMISE!

This is one of Sadie's favorite places, on one of her sisters laps.  She loves hanging out with her sisters. She will watch them, laugh at them, smile her best pirate grin at them.  As long as they are not "holding" her she is completely happy and content. There is nothing better or sweeter then watching the 3 of them together.  Happy, smiling, and laughing.