A FEW GENETIC TESTS PENDING....

As you all know we did not get any answers before Micah passed about what type of disease she had or where she got it from, which is INCREDIBLY frustrating. We knew that her muscles weren't progressing the way they should have so it wasn't a surprise to find out that she had an undiagnosed muscle myopathy(disease).  Before she passed, our Neurology team sent out 3 more genetic tests and those tests will probably take a couple weeks/months before we will get the results back.  We are so on edge about this.  We have no idea if what she had was inherited from us. MAJOR SAD FACE!  The thought that there is a possibility that this could happen again is devastating.  We have talked about us having another baby but we are both very very hesitant and of course we won't make any decisions until we get these tests back. We want Micah to have a brother or sister so that she can look down on them and be the most amazing big sister.  She deserves that! I need to post a pic of her because I miss seeing her face.....

I have had this post typed and ready to be published for 2 weeks now but I was just uneasy about posting it and I finally got the courage to hit publish. Yay for me right?  Well, there is so much I didn't say and I'm sure you know why.  It's such a terrifying feeling to think that maybe one day you might never be able to get pregnant again or maybe you were the one who caused Micah's disease or living with the unknown and then how awful would it be to have this happen again?   This is it, this is where everything gets REAL! Ughhhhhhh...........

Yes it's getting real and it's REALLY FREAKING AWESOME to receive a phone call a couple days ago from our genetic counselor (who I think is one of the smartest women I have ever met) who told us that they are 95% sure they have determined what Micah had.  WEIGHT lifted immediately.......AHHHHHH! I am jumping up and down over here.  This is the first time I have genuinely smiled on the inside since....well.... since a really long time. She also informed us that there is a chance Micah's myopathy was a spontaneous mutation of the ACTA1 gene.  Translation: it is very likely that this was not inherited which means it might not be possible that Bill and I are carriers of this mutated gene. HECK YEA!!!  I wish we could express our excitement into words but it is IMPOSSIBLE!  I guess you could compare it to winning the lottery. SERIOUSLY, this might be better than winning the lottery. You can't buy love right?  Again, 95% sure so we are still awaiting confirmation but she sounded very confident that this is just a fluke mutation of a gene.

So you are probably saying, "well what the heck did she have?" Micah had something called Nemaline Myopathy and this disease could have been cause by 6 different mutated genes.   In Micah's case the gene that caused her myopathy was the ACTA1 and in past findings they discovered that parents are not carriers for this occcurance. It is like a FREAK mutation and there was a 1 in 50,000 chance of this happening to any baby....WTF? WHY her?  We found out there was a baby born in 2003 that passed away at 2 mos from the same nemaline myopathy and he or she had the same exact mutated gene(ACTA1).  Their findings show that those two parents were not carriers either .... THANK GOD for their sake!  I would LOVE to meet them.  There is so much I am not explaining but it's really confusing so sorry if you don't understand.

We are so very happy and excited for our future now!  Still holding onto the fact that the genetic counselor is only 95% sure that this is what caused Micah's condition.  She will confirm when the other two genetic tests come back.  Who knows when that will be?!?!  Staying Positive!

Happy Birthday to our 3 month old Angel in Heaven! 

We Heart You Micah!