In Rememberance

This may be a long post, but I just wanted to put my thoughts down on "paper."

This has been a really hard year....month....week.  I haven't cried this much in a while.  All weekend, I had to deal with a terribly long episode of severe nystagmus and an oscillating "world."  It always feels like I'm going to go blind.  Sunday night, I experienced such nausea that my mom even had to put a bin next to my bed. :(

Tuesday, I saw my pain dr.  And, as fun as it always is to see him, this was kind of a hard appointment.  I asked him if he knows much about mitochondrial disease, and he told me that there are really bad cases where your muscles stop working at a young age and pretty soon you die (and mito doesn't just affect muscles...it affects all the body systems since every organ needs energy)....or, there are those cases where you don't know you have mito until you're 70.  And we're not sure yet which case I am...  Although, the younger you are, the more severe it is..  And I'm only 20.  This is what I love about my pain dr.  His honesty.  And his compassion.  I can't remember his exact words, but I do recall him saying something like---all these conditions I'm dealing with don't define me and we just need to figure out how to proceed with things and live a successful life.

I asked him for a new pain med to try since I still get severe headaches.  So he told me to consider this muscle relaxer that has been known to help neuropathic pain (and headaches) and maybe even calm all the myoclonic jerks I have every day.

The plan is to await the whole genome sequencing results.  If it comes back normal (as it very well may be), then I pursue a muscle biopsy and/or more genetic testing through a very experienced lab down in California.  The dr. there has been doing a whole bunch of research that mitochondrial disease and CRPS is possibly connected.  And he's even found mutations linked between both.

Monday night, my 90 year old grandma suddenly had a heart attack (just like what my grandpa had about 26 1/2 years ago).  The doctors were able to stabilize her, but she was in a coma in the icu and on a ventilator.  They were going to leave her on life support for a couple days and reassess her in 24 hours.  After my pain appt., dad, mom, and I went to see her.  And I'm so thankful I did.  Because...at around 10:25 pm that night, my grandma went to be with Jesus.  We're still in shock because it all happened so suddenly.

I don't remember ever seeing this photo of Nyin Nyin (which means grandma in Chinese) holding me when I was born. :)

Holding me again at my 1-year-old birthday party. :)

Me and my three siblings many years ago giving Nyin Nyin a present for Mother's Day!

The next day, I wanted to read the section in Revelation where it tells us of the coming new heaven and new earth.  I long for that day when God "will wipe away every tear from [our] eyes, and death shall be no more, neither shall there be mourning, nor crying, nor pain anymore, for the former things have passed away." (Revelation 21:4)  How wonderful it will be!  No more genetic diseases with no cure, nor more heavy hearts, no more out-of-proportion pain, no more death!  That is why I don't have to fear the future or of dying young (if that's God's plan for my life).  This earth is not my home any way.  I am going to my real home to dwell with Jesus Christ!

One last story---I follow a mother's blog of a 5 year old girl with mitochondrial disease.  And one time, that little girl was not doing very well.  A friend asked the mom, "Is she dying?"  The mom replied confidently with no fear, "Aren't we all dying?"

The reason for our suffering

Is to help us realize

That in sickness or in death

We are helpless without Christ...

And the ones who are marked by suffering

Are the ones who have found their joy

To be conquerors in all these things

Struck down but not destroyed!

-"This is Grace" by Matt Hammitt

Needing patience..

I've been on crutches for 8 months now.  8 months.  When I was on crutches for 6 months back in 2011, it was kinda exciting (it being the "first" time).  But now....not so much.  They're getting to be a real nuisance. ;)  I wish I could go back to the "good" ol' days when I had my spinal cord stimulator and could walk and run!  I sure miss my SCS!  But....I know God has a good purpose with all of this, so I'm gonna trust Him.  He knows best. :)  And I do thank Him for all that I'm learning through this trial.

This year, it's been getting harder to use crutches for long distances because I've been so fatigued and this left-sided weakness is worsening.  Sooo, guess what?  This girl is gonna get her own wheelchair! :D  I never thought I'd want one or even get to this point, but I really want to go to places (more easily) like the mall or the library.  I still hope I don't have to use one for very long, but in the meantime, I'm excited!  It's going to be a fast, lightweight wheelchair (not a heavy hospital one ;).  Maybe I'll be a wheelchair racer. :D  I have an appointment at the OHSU seating clinic on June 5th.  I'll get measured there by a physical therapist and wheelchair rep.

Next week, I have an appointment with my pain dr.  I haven't seen him since January!  Can't wait to hear his thoughts on what the doctors in Cincinnati think.

To my great disappointment, Seattle Children's mito program called to tell us that they are booked until October.  And since I'll be 21 then, they won't be able to see me. :(  They gave some names of doctors who have mito patients, but even this certain neurologist at University of Washington is booked out as far as October, too.  There are very few mitochondrial specialists in the nation, so I'm not sure what we're going to do..  I found a dr. in Texas who runs a mitochondrial center.  She said she could see me within a month or two. :)  But....Texas is still pretty far away.  At least I can keep her in mind.  I still haven't done the autonomic nervous system testing but hopefully within the next two weeks!

I'd appreciate prayer for patience.  I guess you could say I'm getting a little weary of this journey..  I have a really hard time waiting!  But then I look at these pictures below and am in awe of God's wisdom and power (in creation and in my life).  He has a perfect plan, and his timing is just right!  So until this journey is finished, I will keep pressing on!
 

I took these pictures when we were on the plane heading home from Ohio.  Mt. Hood is gorgeous!

"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

Happy 1st of May!

• Alpers Disease
• Barth Syndrome/LIC (Lethal Infantile Cardiomyopathy)
• Beta-Oxidation Defects
• Carnitine-Acyl-Carnitine Deficiency
• Carnitine Deficiency
• Creatine Deficiency Syndrome
• Co-Enzyme Q10 Deficiency
• Complex I Deficiency
• Complex II Deficiency
• Complex III Deficiency
• Complex IV Deficiency/COX Deficiency
• Complex V Deficiency
• CPEO
• CPT I Deficiency
• CPT II Deficiency
• KSS
• Lactic Acidosis
• LCAD
• LCHAD
• Leigh Disease or Leigh Syndrome
• Luft Disease
• MAD/Glutaric Aciduria Type II
• MCAD
• MELAS
• MERRF
• MIRAS
• Mitochondrial Cytopathy
• Mitochondrial DNA Depletion
• Mitochondrial Encephalopathy
• Mitochondrial Myopathy
• MNGIE
• NARP
• Pearson Syndrome
• Pyruvate Carboxylase Deficiency
• Pyruvate Dehydrogenase Deficiency
• POLG Mutations
• Respiratory Chain
• SCAD
• SCHAD
• VLCAD

Whew!  All THESE names are the many types of Mitochondrial Disease (and no, I didn't memorize all this... ;).  This, my friends, is what I'm going up against. :\  I have a long road ahead of me.  I may have one of these or several (as some go together)...  But nothing is impossible with God! :)

Still waiting on blood work...  The doctors are first checking my mtDNA for deletions/duplications..  Then, if that's normal, they will keep going deeper in..

Next week, I have an appointment every single day except Friday...  It's gonna be busy!!  I see my neurologist on the 8th, and we'll go over the Cincinnati trip and what to do next.

*********

Now, on to more light-hearted stuff.. ;)  Our visit to the Creation Museum (by Answers in Genesis) on our last full day in Ohio was an amazing experience!  If you're ever in Kentucky, I highly recommend visiting it because it won't disappoint!  The Creation Museum not only explores the 6 days of Creation.  We learned about fossils, Noah's ark, evolution, Jesus, the ice age, and a whole lot more!  Plus, their Dragons bookstore was soooo much fun!  I bought this super cute turtle necklace that has a hematite stone on it! :)

Enjoy the following pictures!!  Sorry that a lot of them are out of order!

beautiful grand canyon!

the tree of life

the crafty serpent

God clothes Adam and Eve after they sin.

Andddd....because I have pain and lots of other conditions, it's only appropriate that I take a picture of this. ;)

Adam, Eve, Cain, and Abel :)

their house!

interesting!

Fact: Answers in Genesis is actually in the process of building a full-scale Ark!!!

This exhibit actually displayed some of the first Bibles to be printed!  But no cameras were allowed in it, so I had to take a picture of this. ;)

love this!

getting ready to eat lunch in Noah's cafe! :)

the bookstore!

this mural was built in the bookstore!

It wasn't a very sunny day, and it was too cold to walk around in the gardens.  But doncha think the landscape is beautiful? :)