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Friday, January 4, 2013

Happy New Year

Happy New Year!!

As most people know we had our "big" appointment at NIH on December 19th. I don't think those appointments will ever get any easier on me. I always leave there so distraught after spending 8 hours listening to people recite what is wrong with my child. I can deal daily but when it's all presented to my face in an 8 hour period it's a bit overwhelming.

- Our day started out signing new consent forms for Bailey and adding consent forms for Steven, Addison, & I.

- Then Bailey had a PT evaluation to see the difference in the last year since we've been there, they scored her on what she can and can't do and also gave us other things to work on and that her PT's can work on too. I did ask the NIH PT if she had suggestions on what we could all work on to help her get up from laying down easier, she has always had a major head/neck lag. I was devastated by the answer I was given. She told me that we could work on things but not to beat our head against the wall if it never improves because children with these type of diseases often don't gain better head/neck control it actually gets worse. No one has ever told me that. I'm pretty sure I shed a tear walking out of there.

- Then we had a small lunch break before they started their evaluations on Bailey and Addison.

- At the evaluations they went over everything that's happened in the last year, looked Bailey over, noted the changes and didn't say too much. They also evaluated Addison and as we suspected she is perfectly fine and they all called her "super baby" since she is so ahead of herself with everything! Such a relief!

-Then while we waited for Dr. Bonnemann to come in we all gave blood so that they can compare our genes to Bailey's(We will not get any type of results from this research for atleast a year).

- Dr. Bonnemann evaluated Bailey and did another muscle ultrasound on her. Her muscles are just so damaged and in ways they aren't used to seeing, it really boggles my mind and there's too I guess.

- Then it was meeting time! They are still awaiting one result from the biopsy(done in April) from Columbia University in New York. It is taking for freakin' ever! He did tell me they are most definitely leaning towards a Mitochondrail disease which is what we have thought and that he couldn't see it being anything else. There are several Mito diseases though so we aren't at a point to know which one yet. They also think she may have a CoQ10 deficency and if the results confirm that she will need to go on supplements. It would make alot of sense if she did have that because it is something that would explain her lack of energy! They also informed me that if she were to have another "crash" like she did August of last year they need to be notified immediately and she will be hospitalized (obviously), proper blood work done since it wasn't done right the last time, and she will need a spinal tap! EEK I don't like that idea at all! They also are debating on repeating yet another MRI. I mean really how many different MRI's does one need?

I forgot to add they want Bailey to go back to GI for a follow up. She has been off of her feeds for 9 months and has stayed the same weight for the last year 1/2, She's gotten taller though so she looks so teeny tiny! I hope she doesn't have to go back on feeds but I guess we'll see in February!

I'm supposed to contact our go-to person by the end of January if I haven't heard anything else about the results or a dagnosis or anything.

So NO we still do NOT have a direct answer but we are so close I can feel it. I've never felt like we were on the edge of reaching a diagnosis but I feel it now. I just want to know what we're facing and how to better help Bailey for the future!

Thanks to everyone for always helping us be so positive, for praying for us, for listening to us, for comforting us when we need it, and for just being there! It doesn't go unappreciated!

I hope everyone had a very Merry Christmas!

"Fall into me, my arms are open wide and you don't have to say a word cause I already see that it's hard and you're scared and you're tired and it hurts and I wanna be the one you reach for first."