Wednesday, May 8, 2013

"Scars and struggles on the way, but with joy our hearts can say..."

Lots of updates right here! :)

I saw my neurologist today, and she is referring me to Seattle Children's mitochondrial medicine and metabolism program.  Here's a funny fact: the only mitochondrial programs in the Northwest are in Washington and California but not Oregon...!  Not sure when that evaluation/consultation will be yet, but she is faxing the referral today and labeling it as "urgent"!

I'm also going to be undergoing autonomic nervous system testing at OHSU.  In addition, she mentioned me having a sleep study done because I'm so fatigued and also dealing with increased muscle jerking.  But she decided not to do this right now since I have a lot on my plate.

My mtDNA deletion/duplication analysis came back normal (but only 5-20% of mito patients have a del/dup anyways), so now the doctors are going to be doing something called whole mtDNA genome sequencing.  The results can be normal also.  If so, the next step is a muscle biopsy.  As you can tell, diagnosing a mitochondrial disorder is really challenging and takes many steps.

Right now, I'm currently stopping physical therapy.  My PT suggested I see this occupational therapist at OHSU who specializes in neurology and fatigue.  So my neurologist referred me to see her. :)  I'm sure I'll learn a lot through her!

On Monday, I have to get a kidney/bladder ultrasound!  I sure feel like a human "guinea pig"!

Anddddd...that's all for now! ;)

 "...Scars and struggles on the way
But with joy our hearts can say
Never once did we ever walk alone
Carried by Your constant grace
Held within Your perfect peace

Never once, no, we never walk alone...
 Every step we are breathing in Your grace
Evermore we’ll be breathing out Your praise
You are faithful, God, You are faithful!"
~"Never Once" by Matt Redman

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