THIS IS MY STORY . . .

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Dec 18, 2013

It’s so good to be back in Oregon!! 🙂  Missed my siblings so much!

Last week alone, I had 8 appointments at CCHMC—that was crazy busy!  But these past weeks were incredible, and I’m again so amazed at how thorough and caring the doctors/nurses are at Cincinnati Children’s Hospital Medical Center!  I’m so blessed to have seen numerous specialists there.  It truly is a top not-for-profit hospital!  It’s #3 on the honor roll for best hospitals, but in my opinion, it’s #1. 😉

I wasn’t really expecting this, but the neurologists that I saw this past Friday think I also have a genetic neuromuscular disorder called Congenital Myasthenic Syndrome. (here’s a great summary of CMS: http://ghr.nlm.nih.gov/condition/congenital-myasthenic-syndrome)

This on top of Ehlers-Danlos Syndrome, Complex Regional Pain Syndrome, Postural Orthostatic Tachycardia Syndrome….that’s a lot of syndromes!  My case is so complicated. :/

They agree with Genetics that this neurologic issue is my primary problem, and the Mitochondrial Disease is secondary.  Basically, the CHAT gene mutation that was found in my DNA is disrupting the signals between nerve cells and muscle cells.  That’s why I have muscle weakness, eye movement problems, difficulty swallowing, etc.  They’re not 100% positive (and they may never be because anything with genetics is so complex), but I am already being started on a drug called pyridostigmine which is a cholinesterase inhibitor.  Their hope is that this will improve things and slow the progression.

I’m not worried about the future, though, because this, too, is in God’s hands.  Please don’t worry, either! 🙂  My Lord and Savior always carries me through these new diagnoses/symptoms—the past 3 years are a testimony of that! =)

This is Ashley, another one of my genetic counselors at the hospital.  She’s so sweet!
beautiful train set in the lobby of the RMH 🙂
This huge gingerbread house was donated to the RMH!
Can’t remember if I shared a picture of this painting when I was in Cincy back in April, but this really cute wall is in the eating area of the house 🙂
Just a small part of CCHMC, and they’re expanding, too!
Post written byKerissa

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