Monday, September 30, 2013

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.. ;)

Monday, September 23, 2013

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!!

Thursday, September 19, 2013

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. :)



Wednesday, September 18, 2013

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!! :)

Tuesday, September 17, 2013

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! :)

Monday, September 16, 2013

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...

Monday, September 9, 2013

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. :)