Reflections on this past year 2013

Another year is just about over!  As I look back on these past 12 months....2013 was filled with unexpected events and a lot of "firsts" (and "seconds").  You could say this is my belated Christmas letter.. ;)  I'm sorry if this is a bit long....a lot happened this year. lol

In the middle of January, I came down with a 103.3 fever that wouldn't break, even after taking Advil and Aleve that morning and the night before.

I took my first ambulance ride to the ER after the paramedics came to my house.  I remember hearing one paramedic saying, "She's burning up."  And still another told me, "I'm so glad your dad called us."

My heart rate got very high (in the 150 bpm range)---the doctors had to quickly give me about 4 liters of IV fluids before things started calming down.  One resident dr. told me, "You're a troublemaker!" ;)

My labwork came back all out of whack, and I tested positive for Influenza B.  The flu hit my mom and sister as well, but it was the hardest on me because of the mitochondrial disease..

The flu caused a terrible CRPS flare-up---the pain got so unbearable, and my feet swelled up. :(

Once I recovered from that ordeal, I had my first bilateral lumbar sympathetic block to calm the pain down.  After doing LSBs for 25 years, Dr. S told me that was his first time performing a bilateral one!

In April, my parents, sister, and I traveled to Cincinnati, Ohio for the first time where I saw Genetics, Neurology, and Pain at Cincinnati Children's Hospital Medical Center!  
We spent a week there, and this is when the doctors really started suspecting mitochondrial disease. 

Met this precious little guy at the RMH!  He was getting ready to have a bone marrow transplant!  I know I shared this pic before, but it's one of my favorites! :)

On May 21st, my 90 year old grandma (my dad's mom) passed away suddenly due to a suspected pulmonary embolism. :'(  That was so hard, and it was the first time my siblings and I really experienced the death of a grandparent (my oldest brother was only 6 months when our grandpa passed away from a heart attack).

A lot happened in July.  My 89 year old grandpa (my mom's dad) passed away from kidney failure. :'(  We weren't expecting that, also, because he was given up to 6 months to live.  As you can imagine, that was so difficult for all of us to go through two close family deaths in not even two months.  We all miss our grandparents terribly.

 I'm not sure if it was because of the stress, but that month, I began experiencing chronic GI issues for the first time (which are still going on today).

In July as well, my geneticist in Cincy ordered nuclear mitochondrial exome sequencing.  That was my first extensive genetic test which took about 6 weeks to be completed. 
 
But before the test could get started, our insurance denied the exome sequencing because it was out-of-network.  The lab had to go through the appeals process which took an incredibly long 5 weeks!  But thanks be to God and the amazing laboratory Courtagen Diagnostics, the testing did get appealed!  And our insurance agreed to cover the whole cost! :)

In August, a caring and thoughtful family in our church let my family use their beautiful beach house for a whole week!!!  That trip to the coast was much needed and such a blessing.

Our view from the beach house. :)

Soon after my 21st birthday in October, I had a second lumbar puncture (spinal tap) to check certain lab values at the request of Dr. H, a mitochondrial specialist in San Diego.  I'm still currently trying to get in to see him, but this again may take several months..

Beginning in November, I started having difficulty swallowing (but not from a sore throat) and severe esophagus pain.  Eating brought extreme pain, and for more than a week, it felt like food was stuck in my esophagus.  For the second time this year, I had to take another trip to the ER.  The doctors had me stay overnight in the observation unit as they tried getting to the bottom of this.  I had a test done called an esophagram, but this revealed nothing.  They wanted me to get an upper scope of my GI tract, but they referred all of this to my GI specialist here in Oregon and the motility dr. in Cincinnati.

December 1st-14th, my parents and I traveled a second time to Cincinnati Children's Hospital Medical Center.  I was admitted to the GI unit of the hospital for tests that could only be done inpatient.

All of this was for the GI manometry testing!

And this is what it looked like on the computer screen. :)

I also had a lot of outpatient tests/appointments with cardiology, orthopaedics, pulmonology, genetics, and neurology.  Based on my genetic results, the doctors also think that I have a rare genetic neuromuscular disorder called Congenital Myasthenic Syndrome.  This is on top of the mitochondrial disease..  They already started me on a cholinesterase inhibitor drug to slow the progression.

This has been a tough year for all of us, but your prayers/support and the Lord's grace has sustained us through it all! :)

I don't know what 2014 will bring....maybe it will be an easier year....or maybe there will be new trials and tests.  But this I know 100%: my Lord and Savior is always always good, sovereign, steadfast, and faithful!

"Beloved, do not be surprised at the fiery trial when it comes upon you to test you, as though something strange were happening to you.  But rejoice insofar as you share Christ's sufferings, that you may also rejoice and be glad when his glory is revealed."
I Peter 4:12-13

Home!

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!

Day 10!- Genetics evaluation

Hi, everyone!

This morning, I saw the mitochondrial disease specialist and genetic counselor in the Human Genetics department at Cincinnati Children's.  We went over my history/new symptoms and discussed my nuclear mitochondrial exome sequencing results.  

For those new to my blog, I had my nuclear mitochondrial genes sequenced through a lab called Courtagen Diagnostics back in August of this year.  The lab found several variants of probable significance, but the medical director (Dr. Boles) wanted more information about those specific mutations, so he tested my mom and dad's DNA in October.

So today, we discussed the new results which are now "likely positive" instead of "probable or uncertain":

My CHAT mutation is paternally-inherited.

And the remaining three big mutations (in the TRAP1, GARS, and RYR1 genes) are maternally-inherited.

Genetics had a conference after this appointment with one of the neurologists that I saw back in April.  They both think that the CHAT mutation is what's causing most of my symptoms.  In their words, I "can't synthesize the enzyme choline O-acetyltransferase" which is why I'm having neurologic problems.  The TRAP1, GARS, and RYR1 mutations may also be causing some of my symptoms, but they're going to focus on the CHAT variant first as it's the most important.

I see Neurology on Friday, but the doctors are also going to squeeze me in somehow tomorrow because they want to do more muscle testing.  Not exactly sure what kind yet, but I do know it's not another EMG..  They said it has to be done here before I head home..

Genetics also wants to test my sister and my younger brother (and possibly my older bro) to see if they carry the CHAT gene.  This will be done through Courtagen as well if insurance agrees to cover the additional testing..

I will update again soon!

P.S. Totally forgot to mention that my GI manometry testing is normal in that I don't have a structural GI disorder..  I guess that's good news. :)  But this means my dysmotility is functional...  What does it mean by functional?  For example, functional diseases can't be seen on, say, an MRI.  Complex Regional Pain Syndrome is a functional disorder.  You can't see it on MRI, but there still is a problem with the nerves..  Hope that's easy to understand. :)

Day 9!- my schedule

Yesterday:

Saw cardiology and orthopedics for my POTS disorder and back pain.  Will update some other day about how these appointments went. :)

Today:

It snowed about 4 more inches this morning here in Cincinnati!  Sooo fun and beautiful.

Had an abdomen x-ray to follow up on this GI test I had this past Thursday called a sitz marker study.  

Saw Pulmonary Medicine once again and went through Part 2 of the pulmonary function test to check lung function/strength.

Was able to do something fun after my appointments and visit the Newport Aquarium in Kentucky!  The oregon coast aquarium in Newport, Oregon pales in comparison! ;)  These white alligators were on display at the one in Kentucky!  Soo weird but amazing!  I'll try to post a pic when I get home.

Tomorrow:

Have a super early appointment with the mitochondrial disease specialist and genetic counselor in Genetics.  Will be discussing my nuclear mitochondrial exome sequencing results.

Also have a physical therapy consult in the afternoon at one of Cincinnati Children's neighborhood locations.

Hopefully GI will be calling with my esophageal, antro-duodenal, and colonic manometry test results.  Bracing myself as the doctors said results can often be normal even when experiencing GI dysmotility..

I hope to update with results tomorrow night!  But if not, then definitely after my appointment with Neurology on Friday.. :)

Good night, everyone!

Update- Day 5!

Hello all!

It's snowing here in cincinnati!! :)  I'm sorry I've been slacking on my blog.  Blogger still isn't letting me upload pictures..

Today I had no appointments...because of the snow, we've just been staying indoors at the RMH. :)  I got discharged from the hospital yesterday afternoon---so thankful.  All the GI manometry testing made that 3-day inpatient stay really difficult and hard.  Once the nurses pulled out that first NG tube and I was taken to the OR for the procedures two days ago, I woke up from anesthesia with two more tubes in me..  One through my nose again, and you can probably guess where the second tube was inserted.. :P Won't get results till possibly next Wednesday..  After those two additional tubes were removed yesterday, I had to go through yet another tube insertion through my nose (this time, the manometry catheter was thick, stiff, and metal!).  That was no fun.  I now have a really bad sore throat from all the tubes and being intubated in the OR.  On top of that, I wasn't allowed to get up from my bed for several hours, so they had me use a bedpan several times...sorry if that's TMI. ;)  Always a first for everything!

Tomorrow, I have a second sleep study scheduled.  Pulmonology wants more info related to my sleep disorder.  Don't have results yet from my pulmonary function test.  Hopefully this Monday!

Have a great evening! :)

Yesterday- Day 2...

Hi guys!

So sorry I didn't blog yesterday.  It was a super busy day, getting my first pulmonary function test to check lung function/strength, seeing the sleep docs, going through the whole admitting process, and a whole lot more.  I wanted to post pics, but Blogger is giving me trouble once again...so pictures may never come until I get home..lol. :P

The NG tube in my nose finally got removed this morning!  *sigh of relief*  It was so miserable with it in---every time I swallowed or spoke, the tube moved around way too much and made my throat really sore.  The nurse had to tape the tube down three times!

At 3:30 today, I'll be taken to the OR for the extensive procedures.  You want to hear a cool fact?  Because I'm prone to malignant hyperthermia, the anesthesiologists in the OR will use this machine and filter out the "bad" general anesthetics that are known to cause reactions to MH. :)  Very fascinating!

In other news, the Ronald McDonald House across the street from CCHMC called and said they have a room for us!  It's so nice that I'm still of age to stay there even though I'm not a teen anymore.. ;)  Now we get to stay there until we leave to return home! :)  Thank you, Lord, for your many blessings!

~Day 1~

Hellooooo from Ohio!! :)  Thank you so much for your prayers!  I so appreciate all of you!  I'm afraid this will have to be quick since I have a long day tomorrow.

My parents and I made it to Cincinnati safely. :)  My mom and I were blessed to fly first class (thanks to mercy medical airlift!), but we didn't get that much rest because it was a red-eye..  So we're all super tired!

Right when we arrived in Cincy, I had to head straight to CCHMC for my first GI motility appointment.  It went very well! :)  The dr. walked us through the extensive GI plan for this week.  The team is so thorough!

Right after my pulmonary medicine appointment tomorrow morning, I'll be getting admitted to the hospital for at least a few days.  They're going to insert an NG tube to "clean me out" for the tests. ;)  I won't be able to eat Tuesday and Wednesday!  On Wednesday, I'll be taken to the OR where Dr. K will scope my GI system and take biopsies of my esophagus, stomach, small intestine, and large intestine.  This will be done under general anesthesia, and since I am prone to malignant hyperthermia (my exome sequencing shows I have a positive gene mutation for this condition), GI put in an order for a consult with Anesthesia.  On Thursday, Dr. K will start esophageal, antro-duodenal, and colonic manometry testing.  That's a mouth full!

Tests and More Tests...

Hey friends!

Just an update for you---this week has been crazy busy!!  I have 5 appointments this week alone!  Hopefully things will get less hectic next year. ;)

Monday, November 18th---  I had to go through a most unpleasant GI test that involved water-soluble contrast and fluoroscopy.  I'm traumatized for life! :P  And I hope I never have to repeat it again..

Yesterday (Nov. 19th)---  I had physical therapy, and I also saw my pain specialist for a follow-up.  You want to hear something awesome?  Dr. S told me that there's a company out there that now makes MRI-compatible spinal cord stimulators!  For those who don't know, I had a SCS implanted back in 2011 for CRPS nerve pain in my feet.  But last year, I had to get it explanted because of the need for brain/spinal cord MRIs.  I miss my stimulator terribly!  So Dr. S said he's willing to place another SCS in my back once this mitochondrial disease work-up is complete! :)

Nov. 21st---  Tomorrow I have to get an abdominal ultrasound which is the 2nd GI test that the Motility medical director at Cincinnati Children's requested.

Nov. 22nd---  Friday I have a gastric emptying scan scheduled in Nuclear Medicine which will take 3-4 hours..  This is the 3rd GI test that Dr. K wants.

Nov. 25th---  A barium Upper GI study is scheduled on this Monday.  For the test, I have to drink about a cup and a half of barium..

Nov. 27th---  I see my Sleep Medicine dr. for a follow-up because I started using continuous positive airway pressure (CPAP) last week!

November 28th---  My extended family is coming over for Thanksgiving at my family's house.

December 1st---  My parents and I leave for Ohio!

Dec. 2nd---  first appt. with one of the GI motility drs.

Dec. 3rd---  I'll be seeing Pulmonary Medicine.  Immediately after that appointment, I'm getting admitted to the hospital.  Anesthesia will come to see me in my hospital room, and I'll be having a nasogastric tube inserted to prepare for the GI procedures the next day.

Dec. 4th---  will be taken to the OR where Dr. K will do several extensive GI procedures, including taking biopsies and checking for anything abnormal like inflammation, ulcers, etc.

Dec. 5th---  Dr. K will start manometry testing in my hospital room.

Dec. 6th---  Depending on the above GI test results, Dr. K may perform further studies like an esophageal manometry or PH-impedance probe test..

Dec. 7th---  I have a tentative 2nd sleep study scheduled Saturday evening if the Pulmonary Medicine docs want more sleep info..

Dec. 9th---  On Monday I'll be seeing Cardiology and Orthopaedics.

Dec. 11th---  I have an appt. with the mitochondrial disease specialist and genetic counselor in the Human Genetics dept.  We'll discuss my nuclear mitochondrial exome sequencing results.  Neurology will see me as well possibly after this appt. or on Thursday/Friday.

Dec. 14th---  The plan is to head home! :)

The coordinator in GI told me that this schedule is bound to change, so we just need to be prepared to be flexible..

Praying you all have a blessed Thanksgiving!!


P.S.  Next week I'll be taking a blogging break, but don't go away! ;)  Lord willing, I'll get back to the blogging world in Ohio!

Just HAD to share! :)

Wonderful news---my Cincinnati trip this December is a go!!  Thanks be to God, the GI motility disorders team has fit me in on their schedule!  I'm SO happy. =)  Originally, this was thought to be impossible because they are booked out till mid-January and they could only see me if my GI dr. here did a hospital-to-hospital transfer.  But, 4 days ago I spent an unexpected weekend in the ER for severe esophagus pain and swallowing issues, and I lost another 2 pounds....  So my GI specialist here in Portland spoke to the Motility disorders medical director at Cincinnati Children's regarding these worsening issues, and by the grace of God, Dr. K is squeezing me in on his schedule, and he already booked the OR for all the testing he wants to do.  Before I leave for Ohio, Dr. K wants me to have 4 or so additional GI tests done here before Thanksgiving.  This is gonna be a super busy 2 and a 1/2 weeks!!

This is the plan:

On Dec. 3, I first see Pulmonary Medicine.  After that appointment is the consult with Anesthesia (for the GI procedures), and then I see Neurology.

Wednesday through Friday (and possibly Saturday), Dr. K will do his extensive GI procedures, and I think they're admitting me to the hospital for all of this.

Saturday evening (Dec. 7th) is my tentative 2nd sleep study.  Last night, I started CPAP for my sleep-disordered breathing, and if I don't notice any benefit with CPAP, then the doctors at CCHMC will have me try BiPAP at this 2nd sleep study.

On Monday the 9th, I see Cardiology (consult for dysautonomia), and afterwards, I have an Orthopaedics appt. with the Spine Center for the chronic spine pain I've been dealing with.

Wednesday is my appointment with Human Genetics---I'll be seeing their genetic counselor and mitochondrial disease specialist.

Thursday through Friday is left blank in case any of these doctors want additional testing..

And on Saturday, the plan is to head home! :)

Thanking the Lord for His goodness,

kerissa

This Passing Tide...

Yesterday, I saw my physical medicine dr. for a 4-week follow-up on my spine pain.  Sadly, physical therapy hasn't been helping, and Dr. C thinks this chronic spine pain is related to my muscle weakness (from the underlying neuromuscular/mitochondrial issue).  So he referred me to the Spine Center at Cincinnati Children's for a second opinion when I'm there in December.

Lately, I've also been having issues with swallowing/choking (in addition to weak chewing muscles), so Dr. C put in an order for speech language pathology here and possibly a swallow study.  He wants to speak with my geneticist in Ohio about this new problem in case I need to see Speech there, too.

Regarding my GI system, I've lost 4 pounds in two weeks..  If this keeps continuing, I'm going to hit 78 lbs. very soon!  I did get referred to GI at CCHMC, and the team is currently reviewing my records/referral.

Yesterday, I had a horribly long episode of nystagmus, and it made me want to pop my eyeballs out to stop them from oscillating uncontrollably. :(  I really hope Neurology at CCHMC will be able to help this issue..

To make matters worse, I've been having cognitive problems---I often have trouble recalling what verb tense to use when I'm emailing or texting my friends, and I'm forgetting certain details. :(  This is related to the CHAT gene mutation that was found in the mito-exome.

As you can see, I'm not doing that well.  But I am reminded that I can do all things through Christ who strengthens me! :)  Thank you, Lord, that I have You to lean on!

I've been super busy getting all these appointments lined up in Ohio!  It now looks like we'll be there for about 2 weeks (and longer if necessary).  My parents and I leave for Ohio in only 3 1/2ish weeks..!

Many blessings on your week,

kerissa

 "These sufferings, this passing tide
under Your wings I will abide,
and every enemy shall flee;
You are my hope and victory."

~lyrics to Praise the Father, Praise the Son

Upcoming Trip.......

I don't really want to go into the gritty details, but this has been a hard week physically. :(  Long story short, my mitochondrial disease appears to be progressing..
 
Not knowing what will happen next symptom-wise always keeps me on the edge of my seat.  But, I am encouraged that, when all else fails, Christ remains faithful.  Thank you, Lord, for your unending grace!

Up until a couple months ago, traveling back to Cincinnati, Ohio wasn't in the "plan."  But here I am, planning another trip back.  This December.  My geneticist has referred me to Genetics again (but this time to see their mitochondrial specialist), Pulmonary Medicine, and Gastroenterology (Motility Disorders Program).  I've also been referred to Cardiology and am hoping to get appointments with Spine Medicine and Neuromuscular as well.  This will be the whole deal.. ;)

Hopefully after I see this mito specialist, I can begin "treatment," including the "mito cocktail."  For my TRAP1 gene mutation, Dr. Boles through Courtagen said that aggressive antioxidant therapy can be helpful, and I look forward to starting that.

Even though this Ohio trip is in the works, I still hope to see that mitochondrial specialist in San Diego.  But I'm not sure if or when that will be..  Especially since my spinal tap results are still pending. :)

Your prayers for wisdom would be appreciated!  Pray that I would patiently endure and not be focused on all my symptoms all the time.

love and hugs,

kerissa

Well, that wasn't too bad! :)

Thank you, all, for your prayers this morning!!  My lumbar puncture is now behind me!  God is so good!  Everything went extremely well, even better than I was expecting---my pain dr.'s awesome and so funny.  He sees countless patients, yet he still remembers my full name and birth date/year.  I found out today that my birthday is 8 days after his. :)  You want to know something else funny?  We both have double letters in our first and middle names!

The procedure hardly hurt at all!  Can you believe it?  Maybe it's because he's an anesthesiologist (my first spinal tap last year was done by a radiologist, and it was oh so painful)... 

Dr. S drew 5 tubes of cerebrospinal fluid, and he used the smallest needle to decrease the risk of a post-dural puncture headache.  Because the needle was so tiny, the fluid only came out one drop at a time. The flow got slower by the minute, so he asked the nurse to tip the table a little bit. ;)  Not sure when I'll get results back because one of the labs needed is so specialized---the laboratory told him they're going to try and figure it out.  Haha!

Medical Updates

This past Friday, I had a follow-up with Dr. F, my neuro-ophthalmologist.  She's so so sweet!  The external ophthalmoplegia (weakness/paralysis of the eye muscles) in my left eye is stable at the moment which is great news! :)  For those who don't know, my left eyeball can't look to the left very well at all which isn't much fun...but there's not a lot that can be done for treatment, so she just wants to keep monitoring it.

I still get nystagmus (fast, uncontrollable movements of the eyes) every now and then, but thankfully, I can keep it at bay as long as the migraines aren't too bad and I get adequate sleep. :)

For 3 weeks now, I've been having horrible spine pain, and I have no clue what started it.  So my physical medicine dr. squeezed me in today.  So grateful!  He ordered two x-rays of my thoracolumbar spine, and the images show that I have some multilevel degenerative disk disease.  One problem after another...I sure feel older than 21........lol. ;)  The spine pain may also be from the underlying mitochondrial and/or neuromuscular disorder.  So Dr. C ordered more physical therapy, and I have a follow-up with him in 3 and a 1/2 weeks.  If things are no better by that point, then he'll possibly order more imaging studies like an MRI.

This coming Wednesday is my spinal tap at 8 AM!  I'd appreciate your prayers!  My pain dr. told me I'm at increased risk for a post-dural puncture headache, so we'll see how bad it is the second time around..  Thank you all for your continued love and support! :)

The Long Awaited DNA Results: Part 2

The following two mutations are ones that are likely related to my mitochondrial disease:

• Courtagen found a mutation in the CHAT gene (choline O-acetyltransferase).  Dr. Boles said my genetic variant in CHAT might contribute to the complex disease picture in (me).
• The second mutation was found in the TRAP1 (TNF receptor-associated protein 1) gene.  My genetic variant is in the ATPase domain of the protein.  These mutations are thought to "predispose towards disease due to defects in antioxidant defenses."  People who have variants like these have chronic fatigue, pain (now I know why I have Complex Regional Pain Syndrome! :), and G.I. dysmotility.  And I deal with those three symptoms..

Dr. Boles said CHAT mutations respond favorably to anticholinergic esterase inhibitor treatment, and he also wrote that TRAP1 mutations can respond favorably to aggressive antioxidant therapy.  That's great news!

In addition to the GARS and RYR1 mutations that were found, I mentioned in Part 1 that Courtagen found 19 other possible disease-causing mutations.  This makes my case even more challenging..  I know I've said that before, but just in case you forgot.. ;)  I could possibly have a polygenic disease from multiple variants combined.

So in order to figure out what variants are likely causing my "disease," Dr. Boles wants my mom and dad to be tested.  Courtagen is sending saliva kits to my parents, and their tests will be completely free of charge. :)  This laboratory is amazing!  Their tests will help Dr. Boles with my test interpretation.  This is going to take another 5-6 weeks..  My patience sure is being stretched.. lol

So in the meantime, stay tuned! :)  We're SLOWLY BUT SURELY making progress!

One of my friends shared this quote with me recently, and I thought it was just perfect!!

 "If God sends us on strong paths, we are provided strong shoes" - Corrie ten Boom

The Lord has been so faithful---He provides me with everything needed for this wild ride of a journey.

The Long Awaited DNA Results: Part 1 (because the whole report is 13 pages long..!)

Okay, here are the nuclear mitochondrial exome sequencing results!  BEWARE!!  The following may be a little technical.. ;)  And I'm still trying to process things myself.

I wasn't expecting them to find so many mutations!  23 were found in all....!  That's horrible.. :\

You want to hear something a little scary?  The lab found a mutation in the RYR1 (ryanodine receptor 1) gene which is associated with things like central core disease, minicore myopathy with external ophthalmoplegia, and malignant hyperthermia which can be fatal.

So the medical director of Courtagen (Dr. Boles) said I "am at risk for malignant hyperthermia, including potentially serious/lethal complications under anesthesia."

Wait till my pain dr. (who is an anesthesiologist) hears about this!  Dr. Boles wrote that "it is prudent to consider this patient (me!) as affected with MH."  He said my parents and siblings should be considered to be at high risk of developing MH as well until proven otherwise.

I also have a mutation in the GARS (glycyl-tRNA synthetase) gene which can cause things like Charcot-Marie-Tooth disease, distal hereditary motor neuropathy, and other disorders like those.  My variant, P.K102R, is "rare and predicted to be damaging by algorithms of protein function."

One of Courtagen's physicians will be contacting me hopefully by tomorrow to further discuss the report. :)  I have a lot of questions!  The dr. even forwarded my questions to Dr. Boles---I'm excited to see what he says!

Part 2 of these results will come soon..

 _______________

This Friday, I see neuro-ophthalmology again.  In 2 1/2 weeks, I have my scheduled spinal tap!  My pain dr. told me he can do the procedure, and I'm so happy!!  We have fun together, even if it's for things like lumbar punctures, nerve blocks, and surgeries.. ;)

Sleep Results

2 1/2 weeks ago, I went through my first sleep study and had a follow-up appt. scheduled on October 2nd to discuss the results.  But this past Friday, I got a phone call from the sleep clinic---they told me that Dr. H wanted me to come in sooner to discuss the results..!  And of course, I thought, "Oh no, bad news??"  I didn't know what to expect!  I guess you could say I was a little anxious, and I analyzed and re-analyzed everything, imagining all the worst-case scenarios that can happen with sleep. ;)

Today was the appointment.  I asked Dr. H if he has good news or bad news, and he said he has "gray news."  Lol!

Incredibly sweet and kind, my sleep dr. spent over an hour with me, going over the sleep study results and all of his recommendations.  He has an awesome bedside manner!

So here's what's happening when I sleep:

• It turns out I "wake up" and "gasp" around 12 times every.single.hour!  That's once every 5 minutes...!  That's probably very amusing to watch. ;)  These frequent sleep interruptions cause my heart rate to shoot up to over 107 bpm (normal rate during sleep is under 50 bpm).  Then my body/legs jerk, and I get "aroused" from sleep.  This cycle happens over and over every hour..
• I have sleep-disordered breathing, and my Respiratory Disturbances Index is 12.2 (normal is less than 5).
• He diagnosed me with hypersomnia (Excessive Daytime Sleepiness) and an "unspecified sleep apnea."  It's unspecified because my whole medical history is challenging/confusing, and I'm not the typical sleep apnea patient (i.e., I don't really fall under Obstructive Sleep Apnea, Central Apnea, or Mixed).

So Dr. H wants me to do a 3-month trial of CPAP, but he suggested I wait until after we get more results/answers on what's going on neurologically since CPAP can cause central apnea.  That wouldn't be good!

This is a big week!  Hopefully tomorrow my geneticist will fill me in on the mitochondrial exome sequencing results!  I'm nervous about what the sequencing may or may not have found..  I really wanted to hear from her today (since the results were just posted earlier today), but Ohio is 3 hours ahead.  So I just have to wait!  But that's a tough thing to do.. ;)  No matter how many times I have to wait for results, it NEVER gets easier!!

Day 5: Raising Awareness

Unfortunately, I'm going to have to postpone Part 3 for now...  Sorry about that, everyone!  Typing a lot for Parts 1 and 2 has really aggravated the CRPS nerve pain.  My right hand has been burning and throbbing a ton lately which makes it painful to do things. :(

So instead, I just wanted to share a couple articles about two young girls with mito published this week by The Washington Post and CHLA's blog. :)

http://www.washingtonpost.com/local/education/arlington-5-year-old-raising-awareness-for-rare-mitochondrial-disease/2013/09/18/c09c4a16-2065-11e3-8459-657e0c72fec8_story.html

Dr. Richard Boles and his 10-year old patient Kylee at Children's Hospital of Los Angeles:
http://www.wetreatkidsbetter.org/2013/09/kylees-story-advocating-for-awareness-of-mitochondrial-disease/

Dr. Boles is the medical director of Courtagen, so he will be interpreting my mitochondrial exome sequencing results!  Very excited about that. :)

Part 2- the next part of my journey (Mito Awareness Day 4)

Exactly one year ago, I was readmitted to the hospital for 8 long days due to worsening leg weakness.  It was horrible.  My left leg felt dead and oh so heavy.  Once again, I had to be seen in the ER for the 3rd time in only 5 days.

I became so used to how things work in the ER.  I was examined by medical students, residents, nurses, and attending physicians.  Poked and prodded a million times, I had tubes and tubes of blood drawn to check my erythrocyte sedimentation rate (ESR), complete blood count (CBC), c-reactive protein (CRP), INR, activated partial thromboplastin time (APTT), anti-nuclear antibodies (ANA), thyroid stimulating hormone (TSH), creatine kinase (CK), complete metabolic set, and differential.

I was tested for Lyme Disease, Lupus, Lambert-Eaton Syndrome, Loeyes-Dietz Syndrome, and Ehlers-Danlos Syndrome (Type IV-vascular).  All those came back negative....

By that time, my Acetylcholine receptor binding antibodies blood test to check for Myasthenia Gravis was completed, and to my great surprise, I tested slightly positive by one-tenth of a point.  One-tenth.
Doctors still weren't sure if I had MG because the lab in Portland they sent the blood to often gave false positives.  So the neurology team sent a fresh blood specimen to the Mayo Clinic.  Unfortunately, doctors told us results wouldn't be finished for 4 weeks.

Still waiting in the ER, I looked out my door and down the hall where I saw two, tall gentlemen walking my way!  I couldn't believe my eyes!  My pastor, an elder, and two staff members from my church came to visit me, and it did my spirit good to see them! :)  My pastor gave me this book filled with God's promises, and he shared this verse with me: "Fear not, little flock, for it is your Father's good pleasure to give you the kingdom" (Luke 12:32).  Right then, I felt such peace and knew that, with His help, I could take this on!

That night, I got admitted to 5A.  The hospital was full that day, so I had to share a room with another person.  After I got settled in, a respiratory therapist stopped by.  The neuro team put in an order to have my lung function checked in case I did have Myasthenia Gravis.  I had to breath in as hard as I could with this contraption and push a button at the same time.  And guess what, I passed with flying colors. ;)

My half of the hospital room was so cramped.  It was nothing like my beautiful spacious room on 10K.  I was so tired, so I said goodnight to my family and tried sleeping.  I would have had a wonderful night's sleep if it wasn't for the lady in the bed next to me.  I heard she had amputated toes and a recurring wound infection.  For some reason that night, she had nightmares, so every 15 minutes, she screamed and yelled out loud and talked in her sleep.  All throughout the night.  I didn't get much sleep as you can imagine.  I shed a few tears, homesick, a little upset with all that had gone on, and not liking that unfamiliar place.  I was so grateful I got my own room the next day!

Every single day in the hospital was like deja vu all over again.  Bright and early in the six o' clock hour, a phlebotomist knocked loudly on my door, flipped on blinding lights, and came to draw five more tubes of blood.  I became so used to everything---I even started trying to sleep through the blood draws and new IVs.

One of the best things about this hospital stay was meeting Brian, a medical student. :)  Not only did he answer all my questions and explain what could be going on, he was like a big brother to me.  He tried to visit me every day, even after finishing a difficult final for his neurology rotation.  I found out then that he goes to the same church as my brother! :)  I've been blessed to still keep in touch with him and his wife.  Brian graduated from med school back in June!  So happy for him.

I know I shared this picture before, but I love it!

Next up: Part 3- the time I had a 2 1/2 hour EMG/NCV study and my first spinal tap..


P.S. It's been two weeks, and I still haven't gotten my sleep study results... :(  The doctor hasn't started interpreting the data yet, so the receptionist is going to send him a message..  In other news, next week I will very possibly get the mito exome sequencing results!! :)

Part 1- My first visit to the ER/first admission to OHSU

Around this time one year ago, I was in the hospital!  I never fully blogged about those long weeks because it was too fresh in my mind, but to bring more awareness about mito, I will tell you the story. :)

It was a Wednesday.  September 5th, 2012.  To this day, I still don't know what caused that severe headache.  Maybe it was stress...  A couple weeks before, I began volunteering in my local hospital's neonatal intensive care unit.  At the time, volunteering didn't seem stressful to me, but I was still getting used to walking long periods (the spinal cord stimulator I had implanted a year before helped the CRPS pain, but being on my feet for several hours once again aggravated the CRPS and I had flare-ups while volunteering).  Also, I was fighting a cold.

Anyway, that Wednesday evening, I started experiencing a terrible headache at the base of my skull.  I was confused.  I never got headaches!  OTCs like Advil and Aleve didn't help at all, so those next several days were a struggle.  6 days later, I noticed that my left eyelid was drooping.  I thought it was because I was tired, so I took a nap.  That didn't help. ;)  Trying not to freak out, I saw my pain dr. that day for a follow-up.  Immediately, he noticed that the droop wasn't normal.  Thinking that this was possibly due to my cervical instability (I had x-rays a few weeks before for radicular neck pain which showed I have mild anterolisthesis due to EDS), he sent an urgent referral for me to be seen by a spine specialist.  They still couldn't fit me in for another week, so I headed home, my eye and headaches not feeling any better.  On Friday, my eyelid droop was bothering me so much!  I kept thinking, "What's going on??"  So my mom called the dr.-on-call at the spine center and told of my predicament.  The resident sent me to the ER, explaining that any facial-related symptoms could be serious.

The attending physician at Doernbecher's ER wanted me to get some MRIs, but because I had a metal implant in my back, that was contraindicated.  We were in a dilemma.  My pain dr. didn't want me to get a CT scan because of the high-dose radiation, but the dr. in the ER said that was the only thing we could do.  Despite the risks, I decided on the CT scan, so Dr. M ordered a brain CT and one of my cervical spine (both without contrast dye).  CT scans are incredibly fast, and we had results in no time!  Imagine my dismay went they both came back normal.  I got sent home but had no clue how I'd "make it" another day.

Saturday, my drooping eyelid got even worse to the point that my vision was blocked.  I was miserable, trying to deal with that, worsening headaches, neck pain, and several canker sores in my mouth.  This time, my mom called the dr.-on-call who worked with my pain specialist.  They recommended that I head back to the ER, and they even told the ER that I was coming.  *sigh*

That second ER visit was like night and day!  When I arrived there, I was thrust into a different world.  I remember having 7 tubes of blood drawn.  I wasn't allowed to eat or drink.  I had to have a bladder scan and urinalysis.  A 3rd year neurology resident came to see me.  I had countless neuro exams (checking strength, reflexes, etc.) by her and a medical student.  I had no idea that I was hyperreflexic throughout and my left leg was completely weak...I couldn't even resist her pressure. :(  I was so shocked that I had a weak leg.

When my parents asked her what she thought was going on, she mentioned that I could have an autoimmune neuromuscular disease called Myasthenia Gravis (which means "grave muscle weakness") or Multiple Sclerosis but that I need to go through further neurological work-up.  When she left the room, I looked both conditions up online.  Reading the list of symptoms, mine didn't fully match with either of them.  It was a complete mystery, and I hated that I was so complicated.

Other than a sweet visit from my pain dr. and one from a family friend, the minutes slowly crept by.  At 1:00 AM, I was still in the ER.  My nurse came to wheel me to Radiology where I had 2 more CT scans but this time with contrast dye.  I definitely didn't want more radiation, but the doctors really wanted more images to check for stroke or carotid artery dissection.  Contrast dye for CT is totally different from that used for MRIs.  When the tech injected the dye into an IV, it felt like burning hot liquid traveling through my body from head to toe.

*side note: I later learned that one CT scan is like standing non-stop in the sun for 20 months.  Ugh.  That meant the 4 CT scans I had would be like standing in the sun for 80 months (more than 6 1/2 years). :(  In my hospital bed, I kept seeing a lot of my hair stuck to the sheets.  If I could travel back to that time now, I would have declined the 2 additional CTs.*

At 3 AM Sunday morning, I finally got admitted to my own hospital room on 10K, the neurology floor.  Dead tired, I slipped into the bed sheets without even brushing my teeth or eating something.  I was NPO in the ER, so I didn't eat food for more than 14 hours.

I woke up at 6 that morning, hungry and needing to use the restroom.  It was still dark out, so I ate a CLIF bar that I had brought in my bag.  I then dozed off for about an hour.  A tech later came to wheel me to Radiology once again where I had 2 chest x-rays.  If I did have Myasthenia Gravis like the doctors wondered, they wanted to take a look at my lungs and see if I had trouble breathing.

My case was very difficult to the doctors.  I had no fatigueable component to my muscles which can indicate MG, but the fact that my drooping eyelid was slightly better that day made things challenging as Myasthenia Gravis can present with intermittent weakness.  But since they were still waiting on pending blood work, the doctors believed I was safe for discharge home.  I was glad!

Up next: Part 2! :)

What is Mitochondrial Disease?

In honor of this special week across the globe, I'm going to try blogging every day through Friday. :)  Today I want to share some basic facts about mitochondrial disease!

Here are just some of the many symptoms:

1. More kids die from mitochondrial disease than from pediatric cancer.  Shocking but true!  Now that my eyes and ears are opened, I hear so many news stories and articles of kids and adults fighting this terrible disorder.

2. There are 44 different variations of mitochondrial disease.  This makes diagnosing difficult and challenging.  To make matters worse, there are so few mitochondrial specialists in the nation.  Patients often go undiagnosed for years.

3. Every 15 minutes a child is born they will develop some type of Mito Disease by the age 10.

4. The following are some of the symptoms that I experience: fatigue, migraines, nystagmus, drooping eyelids, tremors, dysfunction of the autonomic nervous system, chronic nerve pain, G.I. issues, problems with sleep, muscle weakness and atrophy, exercise intolerance, tinnitus, hypermobility, nausea, etc.

Tomorrow I will be blogging about how I first got started on this mito journey!  Many of you probably don't know what happened to me around this time one year ago...

P is for Perspective

Hi, everyone!  It's good to be back to the blogging world!

I wanted to blog the first week of September like I had mentioned, but that week was super busy, getting back into the gist of things after returning home from the beach with my family.  We had a great time together, but I'm glad to be home because I get more rest and sleep than when I'm on vacation! ;)  Not much rest at the beach meant nystagmus and bad headaches..

Last week, I saw the sleep medicine doctors and had my first sleep study.  Normally, the doctors have the techs wake the patients up at 6 in the morning, but Dr. H wrote in the order to let me sleep till noon the next day.  I was glad!  The study was extremely interesting, and the techs taught me a lot about sleep disorders.  But I really hope I don't have to repeat the experience. :o)  I should get results within two weeks!

This past Thursday, I also saw my neurologist and had my 4th EMG/NCV study.  The results were abnormal---namely, my right tibial motor nerve shows prolonged distal onset latency and increased insertional activity.  Not sure if this is mitochondrial-related...

The spinal tap Dr. G's ordering is to check 5-methylhydrofolate levels and lactate.  She's gonna be in touch with my pain dr. this week to see if he would like to do the procedure.

Just 2 more weeks and the mitochondrial exome sequencing results will be completed!  Yay!  All this waiting for results is exhausting. ;)

I've been following a blog and facebook page of a mom who has 4 little daughters---her two youngest are battling an extremely rare disease that doctors think is an unknown mitochondrial disorder.  My health issues pale in comparison to theirs!

Ever since they were born, Addison and Audrina have had to deal with: Severe Dysmotility, Reflux, Failure to Thrive, Vomiting, Hypotonia, Anemia, Jaundice, Chronic Fatigue and pain, along with frequent infections, Central Apnea, Hypoventilation Syndrome, Supraventricular Tachycardia, Cardiac Dysfunction, Metabolic Acidosis, Moderate-to-Severe Dysphagia, Abnormal Hemoglobin Variant, Kidney Dysfunction, and Dysautonomia.  They can't even eat normal food. :(  Please keep them in your prayers.

This amazing family is such an example to me.  Their strong faith in the Lord encourages me every day.

So in closing, I just want to say, "Perspective is a powerful thing."  It definitely changes my "vision," helps me look at life differently, and causes me to be thankful. :)

GREAT news!!!

God is sooo good!  When I got home from my G.I. appointment this afternoon, I went to check my email, and there it was..........right at the top of my inbox---an email from the lab in Massachusetts!!!

Can you guess what that means? ;)

It means appealing is finally over after 6 and a 1/2 weeks, and our insurance has agreed to cover the whole cost of the exome sequencing!!!!!  Ahhhhh!  I can't stop smilin'! =)  Praise the Lord---all glory goes to Him!!

This lab has been amazing.  If you ever need genetic testing of your DNA, I highly recommend Courtagen!  They've been so efficient and compassionate, and they never gave up!  I'm truly blessed to get testing through them.

Sooo, here's counting down 6 weeks again, but this time, for real. ;)  Now that this is working out, I don't need a muscle biopsy.  But September will still be a busy month!  I have another 1-hour EMG scheduled, my sleep study, hopefully the spinal tap, and I'll get the sequencing results, too.

Do you want some more good news?  After waiting over 2 months, my wheelchair will be delivered on Thursday the 22nd!  We get to stay at the beach the following week, and I'm so thankful I'll have my chair by then.

I'll be taking a blogging break for a couple weeks but will start it up again the first week of September.  That week I have 4 doctors appointments! :\

Praying the rest of your August is blessed!

Until next time!

P.S. At my neuro appointment this past Tuesday, my neurologist told me she'd love to write a letter of recommendation for me to go to med school. ;)  Don't know what the future holds, but if that dream comes true, that'd be amazingggg!

Thrown a Curve Ball #2

What a week!  To my great surprise and disappointment, I found out on Tuesday that the exome sequencing DNA test hasn't even been started yet... :(  Here I thought the test was almost completed!  Long story short, we found out that this certain laboratory in Massachusetts is out-of-network for our insurance.  So ever since July 1st, the lab (together with my doctors) has been doing all they can to get this DNA test covered, appealing and fighting to show insurance how necessary this test is.  I don't know what's going to happen, but I should hear by next week what they find out.  I know it's in the Lord's hands.  Thankfully, if getting the test through this lab doesn't work out, there are always others.

On Wednesday, I heard back from that mitochondrial specialist in San Diego. :)  After thoroughly reviewing the referral and my records for 5 weeks, the dr. formed a plan.  Before he decides whether to see me, he'd like me to get some extensive tests done first and then review the results:

1. another lumbar puncture (spinal tap) -- I can't even remember what it is he wants to check in the cerebrospinal fluid because it was too complicated..

2. whole exome sequencing -- if the lab in Massachusetts doesn't work out, he recommended one in Maryland.

3. repeat electromyogram and nerve conduction study

4. possible muscle biopsy

******

This coming week, I see neurology and G.I. on Tuesday and Thursday.  And hopefully, I get the echocardiogram results as well.

I came across this poem when I was cleaning through a computer file last week, and I wanted to share it with you.  The words are so rich!

He sat by a fire of sevenfold heat,

As He looked at the precious ore, 

And closer He bent with a searching gaze 

As He heated it more and more. 

He knew He had ore that could stand the test, 

And He wanted the finest gold 

To mold as a crown for the King to wear, 

Set with gems with a price untold. 

So He laid our gold in the burning fire, 

Though we would have asked for delay, 

And He watched the dross that we had not seen, 

And it melted and passed away. 

And the gold grew brighter and yet more bright, 

But our eyes were so dim with tears, 

We saw but the fire⎯not the Master’s hand, 

And questioned with anxious fears. 

Yet our gold shone out with a richer glow, 

As it mirrored a Form above, 

That bent o’er the fire, though unseen by us, 

With a look of unspeakable love. 

Should we think that it pleases His loving heart 

To cause us a moment’s pain? 

Not so! for He saw through the present cross 

The joy of eternal gain. 

So He waited there with a watchful eye, 

With a love that is strong and sure, 

And His gold did not suffer a bit more heat, 

Than was needed to make it pure.

Closed Doors

"Many are the plans in the mind of a man, but it is the purpose of the Lord that will stand."

~Proverbs 19:21~

In my previous post, I mentioned how my geneticist referred me to a different place for further diagnostic work-up for mitochondrial disease, but I kept it sort-of secret in case it didn't work out.  Well, that's just what happened. ;)  I learned that Boston Children's has an extensive metabolism program, and it sounded amazing.  But....I got a phone call yesterday that the doctor (after thoroughly reviewing my records/referral) thinks it's best that I just stick with Cincinnati and receive all my care there as he doesn't think he would have anything new to offer..

I am just so thankful for the Lord's guidance in opening and closing doors!  Even though this door is closed, there are many more doors that can open! :)

All that has happened has been such a great learning experience, and it constantly reminds me to fully rely on God for wisdom.

So here's the plan:

1. The referral/records review process in San Diego takes 4-5 weeks, and thankfully, next week will be 5 weeks!  We will see what this mito specialist says..

2. Even if he is willing to see me, that still probably wouldn't be till next year as he is booked out.  So I'm researching other mito specialists that could possibly see me in the meantime.

3. Washington and Los Angeles is currently off the list.  So I've been checking into other places across the nation.  Looking on the bright side, having a complex medical case means I can travel when I wouldn't otherwise! :)

******

In other news, cardiology on Monday went well.  In the middle of July, I stopped the saline infusions because sadly I didn't notice anything, and my "good" vein in my right arm is developing too much scar tissue from countless IVs and blood draws.  This in turn made it difficult for the nurse to keep placing a new IV every time which aggravated the CRPS pain!  So in a way, I'm glad to have stopped the infusions.  

Dr. A wants me to try a combination of two meds for the dysautonomia, but I won't try them until I see a mito specialist..  

This coming Thursday on Aug. 8th, I have another heart echocardiogram scheduled because she wants me to get a current baseline for this year.

******

This is totally random, but do you need a good laugh?  Read these below. :D

 

 

Have a good rest of the week! :)

Thrown a Curve Ball

San Diego is very possibly a no-go!!  I'm as surprised as you are. ;)  I found out on Wednesday that the mitochondrial specialist that I got referred to is booked through the month of December..  Plus, he only sees 3-4 "adult" patients one day per month.  And I just can't really wait that long.

My G.I. system hasn't been functioning well at all for the past 2 weeks, I'm starting to get right-sided muscle weakness, and as I wrote before, I'm losing movement in my left eye.

I also got my holter monitor results last week---I wore a holter for 48 hours, and in just that short of time, the report states I had over two thousand single premature atrial contractions (PACs) and over fifty PACs in pairs.

Plus, my sleep hasn't been great...I often wake up in the middle of the night with sopping, sweaty legs.  The holter report also said my heart rate dropped to 55 bpm during that particular night.  So my neurologist ordered a sleep study for me.  Unfortunately, the place is booked, so the study isn't until September 4th.

I see my neurologist in 2 1/2 weeks and my cardiologist this coming Monday.

But anyway, back to the story. ;)  So San Diego looks like it's not working out...no worries, though, because my geneticist in Cincinnati referred me to an even better place!!!  But until I know for sure that it's a go, I won't be saying a word about where I may be going! ;)  Please say a prayer that this particular dr. will be willing to see me and sooner rather than later...it's sad that there are so few mito specialists in the country.

Stay tuned! :D

Full of Awe

It's been almost 3 weeks since my saliva tube for the exome sequencing got sent off to the lab!!  Counting down 3 more weeks.. ;)  With this new test, the lab can sequence over 1,100 genes!  Being excited is an understatement.  Knowing that there may be even more potential answers is so encouraging.

Look at this picture below.  That, my friends, is what's in every person's DNA...!  This picture alone speaks of God's wisdom and handiwork! :)  Getting the chance to have my nuclear DNA sequenced is eye-opening.  I truly serve and worship a great God!

And as I was thinking about this, going through all these health trials is really part of God's good purpose!  If I didn't have any of these problems, then I wouldn't have the opportunity to learn all of this!  I thank the Lord for His plan in my life.  So please don't wish my life any different. :)

This is even better in full screen, so feel free to click this picture. :)

The small red box in the first picture is this magnified below:

Isn't this SOOO fascinating?? =)

Also, if none of my health issues had happened, then I wouldn't have met this precious little guy back in April at the Ronald McDonald house in Ohio.  I never grow tired of this picture.  Isn't he the cutest 2 year old ever??

He recently had a bone marrow transplant and is soo brave.

Hard Week

This has been another difficult week.  On Wednesday, my 89 year old grandpa passed away suddenly, faster than all of us were expecting.  He was in the end stages of kidney failure but given 4-6 months to live.  But this past Wednesday, he had a catastrophic event---the social worker thinks he must have had a heart attack or something like that.  I already miss him so much. :'(  This is the second family death in not even 2 months.

One of the things I'll always remember about my grandpa is how he always made me laugh:

• When I was little, he used to call me "shorty."  That was his nickname for me.  I didn't like being called that then, but now...I chuckle!
• Ever since I started getting bad headaches last year, he always wanted to know how I'm doing and if I still have "an itchy head."  Haha! ;)  For some reason, he got mixed up between those two things!
• A few weeks ago, I wanted to take a picture with him, so I told him to say, "Cheese!!"  He said, "Cheese!!  Bleu cheese!!" :D

Holding me on his 70th birthday. :)

One of my favorite pictures with him taken just one month ago. <3

Love So High

This past Saturday, a dear mom from my church passed away after a long, long battle with cancer.  I am going to miss her so much. :'(  I first got to know her more when I graduated from high school with her daughter.  And when I got home from the hospital last September, she came to my house and blessed me with a beautiful orchid plant.  I'll never forget that visit with her.  It was such an encouraging time, talking about books and all things medical-related.  We were fighting different health trials, yet we shared a bond because both of us could at some extent understand what we were going through.  She was the epitome of joy.  And she sent me such sweet cards and emails that I treasure still today.

Whenever I saw her in person, I always thought to myself, "If she can do this, so can I!"  She was such an inspiration to me.

Please pray for her beautiful family---her husband and 3 daughters. <3

I think of Matt Redman's lyrics in the song Love So High.  And a line in the song (verse 2) about Jesus says, "Your wounds are our healing."  I just ponder that and how it is SO true.  Because of Jesus' love so high, his wounds on the cross do bring healing.  Mrs. S's death is not the end but just the beginning!  She is now healed, experiencing the fullness of joy in Heaven! :)

Listen to this song.  It will bring tears to your eyes:

"O death, where is your victory?

O death, where is your sting?

...thanks be to God, who gives us the victory through our Lord Jesus Christ."

~I Corinthians 15:55

More tests..

Yesterday:

My first saline infusion went great!  I don't think I've noticed any benefit yet, but I guess it is a little early to tell.. :)

this is my infusion chair. ;)

Today:

My tube of saliva for the exome sequencing got sent off to Woburn, Massachusetts!!  Here's to counting down 6+ weeks once again..  This DNA test costs $16,045...!  It's moments like these when I'm VERY thankful for medical insurance. :)

I saw my neuro-ophthalmologist this morning, and she did another full exam.  Dr. F gave a few reasons why I can't move my left eye very well.

1. I either have weakness of the eye muscles due to a mitochondrial disorder...

OR

it's something entirely different like...

2. an enlarged cranial nerve

3. inflamed eye muscles

So she's ordering 2 MRIs: a brain MRI (it's been 7 months since my last one) and an MRI specifically for my eyes called an orbit study.  That will be interesting!

This morning, my geneticist in Cincinnati sent a referral for me to see a mitochondrial specialist in San Diego!!  It's sad there are none in Oregon..  It will still probably be months before I can get in to see this dr., but I'm excited to finally see an expert who understands mitochondrial disorders.

Enjoy the sunshine! :)  To end, here's a quote that I love.  I just read it today, too!

 No man can estimate what is really happening at the present. All we do know, and that to a large extent by direct experience, is that evil labors with vast power and perpetual success- in vain: preparing always only the soil for unexpected good to sprout in. ~ J. R. R. Tolkien

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!

******

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.. :(