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!