Friday, July 15, 2011

Home again!


I'm sorry I haven't updated since the last post, which was quite a crisis time. She stabilized that night, and hasn't had another episode like that. Thank goodness! The metabolic geneticist came in the next day and talked to us in depth. He feels that the episodes were not true metabolic crisis but rather a reaction to pain. It makes a lot of sense, when we review it looking back. Her lactic acid was high, but that is expected when you are in pain or stress. This was the first time we had met the geneticist at this hospital, and he had a lot of good information for us.

He truly believes that Emily has some sort of maternally inherited mitochondrial disorder. I have reflux, migraines, fibromyalgia. Jacob has migraines and reflux. Emily has everything under the sun. We are waiting on authorization to do a mitochondrial gene array, and a whole exome study. He is also referring us to a different metabolic Dr, who is the leading mitochondrial specialist on the West Coast. His waiting list is about 12 months long, but hopefully he will get us in sooner when he sees how fast Emily has been going downhill.

GI wise, things are the same. She is on TPN for 22 hours a day. She retches a lot in the morning, but it's not too bad during the day. She manages to keep most meds down now. They started her on Rifaximin for bacterial overgrowth. It's a nasty, thick, orange medication. As long as we give it at a different time than her other meds, she usually keeps most of it down. As a side effect, her poop is bright orange colored which is interesting.

We go to GI clinic on Thursday, and then we are going out of town for four days. We are going to visit some friends we haven't seen in a while. It will be SO nice to get away for a bit! I can't wait. We have told Emily that she is NOT allowed to relapse, as we have vacation plans! :)

11 comments:

Cathy said...

I am so glad you have someone to listen. I am praying for answers. Yes, Emily no getting sick on vacation. Thank you for keeping us updated. I love her short hair and she even more reminds me of Annabel.

Araceli Sandoval (Brianna and Hailey's mommy) said...

I have just finished catching up on your last few posts thank you for updating us. I was very worried poor Emily she has been through so much these last months Im so sorry. My prayers are with you all for answers strenght and guidance. Hope you all enjoy your much needed vacation .

Elizabeth said...

I am glad that you are getting at least some answers and will say a prayer that you are able to get away for a few days!

Blessings to you and yours --

Eric said...

Home will hopefully let you recharge your batteries a little.

Zoey's mom, Heather said...

So happy to have you home.All together.Sending prayers as you you head out of town to recharge.Miss Emily,behave,do you hear?

SECRET PEPPER PERSON: said...

So happy to hear from you and happy you are seeing the specialist. Prayers for answers and peace and HEALTH. AND a great get-away!

HennHouse said...

So glad that she seems to be on the upswing, and I'm praying the new doctor gives you some answers and a successful treatment plan. Praying for you as always.

Alison said...

So glad to hear she is home and that you are hopefully going to get some answers.

Michelle and Sean said...

Praying things will stay quiet for you guys for a bit.

Not sure if I should pray for this not to be a mito disorder because I know how that goes. Its progressive with no cure. Or if I should pray for it to be Mito because then you will have an answer. This all just sucks and I'm sorry.

I will just pray for things to go well and improvement for Emily. Hugs!

Debbie said...

So glad to hear this update. I am really curious to know who you are waiting to see on the west coast? Only because I believe we have one of the best in Seattle.

You guys really need relief....from the hospital, pain....just praying you have some good days ahead!

Sending hugs ....

Colleen said...

I hope you enjoy your time away. You all definitely deserve it. So glad to hear that she is home and hopefully you can finally get some answers sooner than later on the mito disorder.