Results are IN :)

This past Thursday, I received my mitochondrial whole genome sequencing results from Cincinnati.  The report states that I have a missense sequence variant in my mtDNA.

"This variant, mt.13376T>C, results in the substitution of threonine for isoleucine at amino acid 347
in the ND5 gene."  Now that's a confusing sentence!  But at the same time, I'm so amazed at God's wisdom and power in creating the human body!  We truly are fearfully and wonderfully made!

Through the use of mutation prediction software, the lab said this amino acid substitution is predicted to be "not tolerated" and "probably damaging"...

My geneticist and genetic counselor said this sequence variant has never been reported before...!  I wish I weren't such a complicated case...  They said it is possible that this change could be the cause of my symptoms, but they need more info to be sure.  My dr. now feels that I should be evaluated by a mitochondrial specialist.  She's also going to order further mtDNA testing through an experienced lab down in California.  The test is called nucSEEK: Comprehensive Sequence Analysis of the Nuclear Mitochondrial Exome.  The dr. of the lab has found mutations between mitochondrial disease and CRPS.  So I'm very interested in this. :)  Unfortunately, results won't be back for more than 6 weeks!

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In other news, my cardiology appt. went great last week!  The dr. is so caring.  She even gave me a hug when we said goodbye. :o)  She's very knowledgable about POTS and even trained in Ohio with one of the first doctors who learned how to treat POTS.

This coming Monday, I'll be starting IV saline infusion therapy twice a week at the hospital.  Each infusion takes 2 1/2 hours long!  But hopefully this will help lower my high heart rate and decrease some of my POTS symptoms.  If these infusions are helpful, then I'll possibly get a port placed.

After my appt., I also wore a holter monitor (portable ECG) for 48 hours.  I should get those results soon.

Hope all of you are having a blessed week. <3

P.S. Please say a prayer for my 89 year old grandpa (my mom's dad).  He's in the end stages of renal failure, and it's so hard to see him like this.. :(

God is FOR us

Hey, everyone!

Just an update for you. :)  Thank you so much for your faithful prayers!  This journey just seems to be getting harder and harder, but I know I have all of you and the Lord on my side. :)

My left eye isn't doing too good.  Lately, I've been noticing that it can't look to the left well at all.  It feels paralyzed. :(  Either that, or my eye muscles got super weak over time..  My neuro-ophthalmologist is booked until the end of August, but she's squeezing me in on July 2nd to see what's going on.  So thankful that's in 2 weeks and not 2 months! :)

I got my autonomic test results in the mail this past Friday, and the dr. who wrote the report said they're abnormal.  I wrote in my last post that my neurologist said they're "normal," but I think what she meant is that I don't have those autonomic diseases like Pure Autonomic Failure or Multiple System Atrophy.

But, on the other hand, I do have some other problems: during the tilt-table portion of the test, the dr. said my heart rate went all the way up to 175 bpm....!  That's definitely not normal.  He also said I have orthostatic hypotension due to hypovolemia.

And, my Quantitative Sensory Function test was an abnormal study as well.  I have a large-fiber neuropathy which causes loss of joint position and vibration sense and sensory ataxia.

I recently read this verse from one of my favorite chapters in the Bible: "What then shall we say to these things?  If God is for us, who can be against us?" (Romans 8:31).  Then, at my little brother's high school graduation (btw, GREAT job, Curtis!!  So proud of you!), we sang this worship song called "Our God."  This is the chorus:

And if our God is for us  

Then who could ever stop us? 

And if our God is with us

  Then what could stand against?

And then, on Sunday at church, we sang the same song once again!!  Coincidence?  I think not. ;)  God has been speaking to my heart about this continually.  God is FOR me, so nothing (not even huge, painful canker sores in my mouth, CRPS flare-ups, no sleep, loss of eye movement, muscle weakness, nystagmus, autonomic issues, fatigue, etc.) can EVER stop me! :)

P.S. I'll get the whole mitochondrial genome sequencing results possibly by next week!  I'm bracing myself...it's probably going to be negative, so then I have to do further genetic testing and/or a muscle biopsy! :\

P.P.S. I have my first cardiology appt. this Thursday!  I'm looking forward to seeing this dr. because Cincinnati Children's recommended her and she specializes in POTS.

Have a great week, my friends!

PDX :)

My pastor has been teaching through the book of Hebrews in the Bible...and let me tell you, it has been such a wonderful sermon series full of encouragement and hope!  I feel like that book was written just for me. :)  On Sunday, he shared an acronym he made up to give us a better understanding of why we go through suffering.  (An abbreviation for our Portland airport is: PDX.)

We go through hardships in life to

Purify

and

Develop

us,

so that we can become

eXcellent.

I just wanted to share with you that bit of a gem! :)  It's simple but full of truth!  I hope it encourages you!

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I recently started this new medication for my headaches, and I realized that I haven't had nystagmus in a while! :)  Maybe that's because there's somehow a connection between headaches and nystagmus....or maybe it's because I've been sleeping a lot lately.  But whatever the cause, I sure am thankful that terrible symptom has lessened!  In a couple of weeks, my pain dr. has to check my liver enzymes as this certain medication can cause an elevation in the transaminases..

My wheelchair fitting last Wednesday went great!  It's going to be an ultralight rigid frame...and guess what my color's going to be?  Acid green metallic. ;)  I'm hoping it won't be super bright, but I do want it to show up more than a darker color.  Sadly, the chair won't be ready for another 4-5 weeks...

My neurologist called this morning with the autonomic test results..  They're normal!  I had a hard time understanding why they're normal (as I clearly have autonomic symptoms, but maybe they fluctuate), so I emailed her, and she just got back. :)   She said the autonomic tests that I had done only test some autonomic functions and are not 100% sensitive.  She went on to say that it is, in general, extremely difficult to diagnose and treat autonomic nervous system disorders... Now I wonder what percentage of patients have "abnormal" results..

Still waiting on the mtDNA blood work...it's likely going to take 2 more weeks to be completed.  And, the doctors at Doernbecher's metabolic clinic are currently reviewing my case before I can make an appointment.

Still lots of waiting to do!!

Monday Miscellany

On Friday, I had my autonomic nervous system testing done.  What an interesting experience!  I'm constantly amazed at all these types of machines and their different purposes.  I should get results this week!

This part of the test checked how well my sensory system is working.  I held this little remote and pushed the "yes" or "no" button when I could or couldn't feel the vibrations/cold temperatures.

This test is called the Quantitative Sudomotor Axon Reflex test.  It's used to assess my small nerve fibers which are linked to the sweat glands.

The tech injected this neurotransmitter called Acetylcholine into these "capsules" against my skin.  She also stuck all these electrodes on the left side of my body.  The stimulation sure stung!

Here are all the graphs she had to record!

This is the tilt-table test.  It's done to look at how my blood pressure and heart responds to the change of position.

******

I got referred to Doernbecher's Metabolic program, and hopefully I can schedule an appointment this week!  The doctors there specialize in metabolic disorders, and they can help diagnose/evaluate patients with mitochondrial diseases.

I had my second occupational therapy appt. today.  My therapist is so sweet!  Her name is Amy. :)  She's been teaching me how to "pace" and conserve energy.  This Wednesday, after my grandma's memorial service, I have my appt. at the OHSU seating clinic to get measured for my wheelchair. :)  A physical therapist named Cinda (who specializes in neuro/muscular disorders) will be helping the wheelchair rep. evaluate and give input on everything.  After that, Amy's going to talk with her and hopefully form a better therapy plan for me.

I'm still waiting for the mtDNA sequencing to be completed.  Hopefully soon!