Quick Update

Thanks to all who checked in with us and prayed about Grayson’s genetics appointment this morning. Unfortunately, the testing did not give Grayson a genetic diagnosis of Leighs, which is very disappointing. However, like I said before, this is what I was expecting to hear, so it wasn’t devastating. We are now at the end of the road as far as genetic testing goes, at least until the science gets more advanced. I am really at peace with this; it’s been a long two years of searching for answers, and it will be nice not to have to wait for and wonder about results anymore. And Grayson does have a clinical diagnosis (the geneticist said he is textbook Leighs/Mito) and I am hopeful he will be able to have access to the clinical trial drug for his disease sometime soon. Currently the drug is only available to those with a genetic diagnosis, which is the main reason we wanted that diagnosis today.

In other, happier, news, I had an OB appointment today and I am at 3 cm already! Without being TMI, my body is screaming that I am READY for this baby to come OUT. My doctor thinks Baby C  will make his/her appearance either this weekend or early next week! (And some are confused about the “C”- both our girl and boy name start with C).

So it was a big day around these parts- I will keep you posted!


  1. Kyla on January 18, 2013 at 12:39 am

    I'm sorry you guys didn't get a genetic diagnosis, but I hope that the trials are opened up soon to clinical diagnoses, too!I NEVER dilated until I was in active labor, so that is impressive to me. 😉 Can't wait to see that sweet baby! So exciting!

  2. such amazing possibilities for change on January 18, 2013 at 12:39 am

    Thanks for sharing your journey! xo

  3. Audrey on January 18, 2013 at 2:19 am

    Hugs..walking a similar road with you..but not pg. Fingers crossed for a safe and healthy arrival of baby C!

  4. basebell6 on January 18, 2013 at 3:02 am

    sending hugs and good vibes for new baby to arrive!and sending even more hugs for the non-diagnosis but crossing fingers grayson can get that drug.

  5. Anonymous on January 18, 2013 at 3:03 am

    Love you guys!- Bridget

  6. Reagan Leigh on January 18, 2013 at 3:16 am

    I was thinking about you all day today! Sorry you didn't get more answers. Glad everything is going well with baby C! I typed you a long response to your last blog post but it was deleted!! In short, don't worry about breastfeeding! I struggled and fought with Reagan…and Ryan, well I can't get him to take anything else (so be careful what you wish for)! 🙂

  7. allthesunforyou on January 18, 2013 at 3:45 am

    Wow – you only have a few days left before baby C arrives! Crazy! Your pregnancy went really, really fast for me ;)Sorry about the test not giving you what you wanted. That's a bummer, but like you said, now you're done waiting on tests and can live with the diagnosis you have. Doesn't make it easeir though. Thinking of you ALL!

  8. Coco on January 18, 2013 at 5:18 am

    Even when you're expecting it, rotten news is still rotten. *hugs* I'm sorry. I wish you could get him some type of treatment!!! But I am so excited that you're already so close to getting little C here!!! It's going to be such a fun weekend!!! Good luck! I'll be thinking of you and waiting anxiously for updates! 🙂

  9. The Martin Family on January 18, 2013 at 3:46 pm

    I really hope and pray that the drug opens up to everyone. It just isn't fair, so there. 🙂 I hope labor and delivery go as smoothly as possible and that your sweet family has a peaceful coming home with Baby C journey.

  10. Down On The Farm on January 18, 2013 at 9:12 pm

    Been thinking about you! Still praying for your family. Keep us posted on new little "Baby C"! Blessings to you!!!

  11. Erin on January 18, 2013 at 9:18 pm

    Whew, what a Doctor filled day! So happy that your body is progressing on its own and that you could have a new bundle of joy any day now. I am waiting by my phone anxiously! xoxo-

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