Happy Holidays

Image from http://hellogiggles.com/hanukkah-is-not-jewish-christmas-and-other-holiday-irks

Happy Holidays!  I have many updates to post.  I hope to catch up with my blogging over the next several days.  Best wishes to you and yours. 

Mitochondrial Disease Testing Update

Image from the Muscular Dystrophy Association

This year I have been on a mission to get answers. 

My journey lead me to a rheumatologist who noticed unusual muscle weakness and suggested I see a neurologist (see It's not Lupus, but...).

I then found my way to a wonderful neurologist who specializes in neuromuscular diseases who confirmed my weakness and ordered a battery of tests (EMG, muscle biopsy, blood work, etc.).  This doctor has seen CFS/ME patients before and does not usually detect the types of muscle problems I have in them.  I then got in to see a mitochondrial disease specialist who has been working with my neurologist, suggesting particular tests and vitamins/supplements. 

Read my February, March, and April blog entries to catch up on the full story.

Last month I received my first set of mitochondrial disease testing results. It's taken so long to get results because I asked that they postpone the testing until we could better afford it. 

The tests done on my muscle biopsy sample were a mitochondrial DNA (mtDNA) analysis and a Mitochondrial Respiratory Chain Enzyme (ETC) analysis. It's my understanding that not many labs in the country perform these specialized tests.

My mtDNA analysis did not show anything of clinical significance. However, my Mitochondrial Respiratory Chain Enzyme (ETC) analysis results were abnormal. From the lab report:

A deficiency was detected in rotenone sensitive complex I+III, which meets major criterion of the modified Walker criteria for the diagnosis of a respiratory chain disorder. A reduction in complex II+III activity was also observed, but not sufficiently reduced to satisfy a diagnostic criterion of mitochondrial respiratory chain disorder. Reduced activities in complex I+III and complex II+III may suggest a CoQ10 deficiency. Mitochondrial electron transport chain disorders may be caused by molecular defects in nuclear or mitochondrial genes.

I hope the image at the top helps make this scientific jargon a bit easier to understand.  The mitochondrial disease expert I saw felt these results merited further testing. Additional muscle tissue has been sent to the lab for them to do a testing for CoQ10 deficiency.  I am also going to have a nuclear DNA (nDNA) analysis done.

I am too tired to explain the significance of these different types of tests, but here are a couple of websites that might help a little:

What Causes Mitochondrial Diseases
Mitochondrial Disorder Medical Information

Time for bed!

Part III: My Seriously Serious UTI Treatment

WARNING: Some people may find the pictures in this post too graphic because they show needles in my arm.  See Part I and Part II for background on this post. 

What should have been a simple UTI turned out to be a two and a half week adventure. The doctor(s) at the hospital decided that instead of oral antibiotics, I needed to have five more days of intravenous (IV) antibiotics. 

WHAT?!  That's a seriously serious treatment. 

In the end, I think my diagnosis was pyelonephritis, which usually means the infection has reached the kidneys.  Though the CT scan of my kidneys (and surrounding area) was clear, the Attending Physician (the doctor in charge of the Resident doctors who had been caring for me) explained that she was concerned the infection was working its way to my kidneys -- which is probably why I was experiencing a cramping pain in my lower back.  She also did not like the way I had not responded to all the oral antibiotics...thus, the IV antibiotics. 

She said a nurse would come to my house to teach me how to administer my own IV treatments and let me do it on my own if I felt comfortable.  If I didn't feel comfortable, the nurse could come back every day to help.  Wow.  It was a lot to take in.  Having a nurse go to a house to administer IV antibiotics seemed like something only really sick people have happen. 

As a parting gift from the hospital, I got to keep my peripheral IV line (i.e, an IV needle in my arm) so that I didn't have to get stuck with a new needle every day (see photo below).  Notice the fashionable green and white striped hospital gown sleeve. 

 

Sure enough, I learned how to administer my own IV antibiotics -- a surprisingly involved process.  It was a little creepy at first, but I could handle it.  The home IV was not like the kind I had at the hospital (you know, with a bag and a pole).  Instead, the medication was packed in a little balloon-like ball that used pressure instead of gravity to move the IV medication through the tubing (see photo below).  

 

Unfortunately, the IV needle in my arm didn't make it the full five days.  It slipped out of place after a couple of days, so I had to get it removed.  The home nurse tried to insert a new IV, but my veins would not cooperate (or she was not particularly skilled at inserting IV's).  She finally gave up and used a butterfly needle to administer my IV treatment (see photo below).  Because the butterfly needle could not stay in my arm day after day, the nurse had to come back each day to do the rest of my treatments. 

As a result of the myriad of oral and IV antibiotics (and despite my best effort with high doses of probiotics), I ended up with a really fun (that's sarcasm) vaginal yeast infection.  All I can say is thank goodness for prescription antifungal medications. 

I am happy to report that I am fully recovered from my first and worst UTI, though I'm now paranoid that I'll get another infection that is just as bad or worse.  Ugh.  Please send my urinary tract good thoughts.  :)
 

Part II: My Very Worst Urinary Tract Infection

Having complications of seemingly simple issues seems to be the story of my life. 

I can't just have a tonsillectomy, I have to have complications that send me to the hospital.  I can't just have typical side effects to Trileptal, I have to have an anaphylactic reaction that sends me to the hospital.  I can't just have a simple urinary tract infection, I have to end up in the hospital on IV antibiotics. 

Obviously, I've given away the ending to my UTI story. 

Most UTIs are caused by Escherichia coli (E. coli).  Since I can't seem to do anything the easy way, my infection was NOT caused by the usual bacteria.  Instead, the bacteria I had was an antibiotic-resistant Klebsiella pneumoniae.  And, of course, it was completely resistant to the the antibiotic I had been prescribed (Macrobid/Nitrofurantoin).  See below for my urine culture results:

RESULT: Greater than 100,000 CFU/mL of Klebsiella pneumoniae
K.pneumoniae
----------------
INT MIC
AMPICILLIN R > = 32
AMP/SULBACTAM R > = 32
CEFAZOLIN S < = 4
CEFEPIME S < = 1
CEFTRIAXONE S < = 1
CIPROFLOXACIN S < = 0.25
ERTAPENEM S < = 0.5
GENTAMICIN S < = 1
IMIPENEM S < = 1
LEVOFLOXACIN S < = 0.12
NITROFURANTOIN R 128
TOBRAMYCIN S < = 1
TRIMETHOPRIM/SULFA R > = 320
Legend:
S = Susceptible  I = Intermediate   R = Resistant  NS = Not Susceptible

You'll notice that there is a big R next to Nitrofurantonin, which indicates the bacteria I had was resistant to the antibiotic I had been prescribed.  The reason I did not feel better over the weekend was because my antibiotic was doing nothing!  Fortunately, the urine culture results came in on Monday, so the PA prescribed a new antibiotic that the bacteria was supposed to be susceptible to (and that I was not allergic to).

Unfortunately, I did not feel any better on the new antibiotic (in fact, I was feeling worse; pain had started to spread to my lower back), so I made an appointment with a doctor for that Thursday -- exactly one week after my symptoms started.  The doctor decided that I was not on a strong enough antibiotic, so she changed my antibiotic.  By the following Monday, my symptoms had not improved. I felt a constant cramping feeling in my lower pelvis and back; I was nauseated and running a 100-degree temperature.  By now, I'd been sick for about a week and a half. 

I called the doctor's office, and they instructed me to go to an Emergency Room rather than come into the office.  The ER?  I felt awful, but I didn't feel THAT sick.  Oh well, what could I do but follow the doctor's orders.  And just like that, my very first UTI became my very worst. 

As my husband was driving me to the Emergency Room, I commented to him that I hoped we'd be back home in time for dinner.  I figured the ER would give me some IV antibiotics and send me home that day with a new prescription.  No such luck. 

While the ER doctor did order IV antibiotics, he also wanted to keep me in the hospital overnight.  Really?!  I told the ER doctor that I felt sick, but not that sick.  He smiled and said they wanted to keep me overnight for additional tests and observation.  I thought he was speaking in code and really meant "we just want your money." 

While in the hospital, I had a CT of my abdomen and was poked and prodded by numerous doctors (Residents) throughout the night.  I had multiple blood tests, a urine test, and two IV antibiotic treatments over the course of 24 hours.  The hospital I happened to be in was a teaching hospital, so I also kept having to repeat my medical history over and over.  I got very little sleep during my stay (my snoring roommate didn't help).  I was glad that I would be going home after just one night.

Before I could leave the hospital, the Attending Physician (i.e., the senior doctor in charge of the Residents) had to review my case.  I assumed I would be prescribed some sort of antibiotic to take home.  I was right, but I was surprised by the prescription. 

I'll write more about my unusual prescription in my next post. 
 

Part I: My Very First Urinary Tract Infection

WARNING: I include some medical-related descriptions that sensitive people might find graphic. Read at your own risk!

Peeing blood is probably one of the most disturbing symptoms I've ever experienced. It's not the most painful or dangerous I've had, but there's no mistaking that something is going wrong with the body.

It all started the evening of Thursday, August 2. I made a pre-bedtime trip to the toilet and did my business. My bladder felt a little weird (not painful, just different) when I went, but I didn't think much of it.

Less than 30 minutes later, I felt the urge to pee again. I tried to go, but very little came out, and what little came out seemed to cause some odd cramping in my bladder. I looked down at the toilet paper after wiping and noticed that it had pink on it -- almost like diluted blood. It wasn't my period, so I was a bit concerned...but I also thought it could have been something I had eaten.

The next morning I did my business again, and had a stronger cramping and discomfort and again found pink on the toilet paper. This time I was almost positive it was blood. I quickly got an appointment for that Friday morning with a Physician's Assistant (PA) at a local clinic.

I had never had a urinary tract infection (UTI) before, but I was pretty sure this had to be one. When I gave my urine sample at the clinic, I gasped when I saw what was in the cup. It was dark with blood, and this time there was red (not pink) on the toilet paper when I wiped. When the results of the urinalysis came back, there was no doubt I had an infection. Following are my urinalysis results (comments indicate abnormal result):

Color: Dark Amber (should be yellow or straw colored)
Clarity: Turbid (should be clear)
Glucose: Negative
Bilirubin: Negative
Ketones: Negative
Specific Gravity: 1.010
Blood: Large 3+ (should be negative)
PH: 7.5
Protein: 2+ (should be negative)
Urobilinogen: 0.02 E.U/DL
Leukocyte Esterase: 3+ (should be negative)
Nitrite: Negative

The PA agreed that I had a UTI and prescribed an antibiotic and phenazopyridine (for the pain and cramping...it turns pee orange).  As I am allergic to the entire quinolone class of antibiotics (e.g., Cipro, Levaquin, etc.), she prescribed Macrobid (generic: nitrofurantoin).  She then said she was going to send my urine sample to a lab to for a bacterial culture to determine what type of bacteria I had and if it was resistent to any antibiotics.  Doing the culture would ensure I was given the correct prescription. 

I filled my prescription on my way to work and didn't think too much about the culture.  I figured I'd feel better in a day or two...but I didn't.

Continued in my next post...

 

Still Here!

I'm sorry about the long silence.  Things have been rough lately.  A series of unfortunate events have distracted me from blogging.  In a nutshell, my favorite uncle passed away, my hubby and I are going through a stressful time, and I've been sicker than usual (100 degree temperature, intestinal distress, stubborn cold sores, swollen lymph nodes, etc.) -- not necessarily in that order.

I'll write more when I feel up to it, but just know I will return to blogging. Thanks for understanding!

Alyson

ME/CFS Awareness Day

Supplements Working or Placebo Effect?

I seem to have more energy lately. 

I've been able to do more chores around the house like dishes and laundry.  To a normal healthy person, dishes and laundry might not seem like a big deal; however, they are high energy activities that have a history of tiring me out. 

Climbing stairs has also become marginally easier.  I still feel winded at the top of the stairs, but not to the same degree...I think.

I'm feeling cautiously optimistic about this newfound energy.  In the past, big improvements in energy have often preceded illness or a major crash.  I'm making an effort not to overdo things to avoid pushing myself into a crash. 

It has been a couple weeks since starting on my 100 mg CoQ10 and 100 mg B2/Riboflavin three times a day.  I have a history of deficiencies in vitamins B2 and D, iron, and CoQ10 (as well as glutathione), so it makes sense that I might feel a bit better with such high doses of B2 and CoQ10 supplements.

I would like to think the supplements are actually helping me feel better, though I am open to the possibility of a placebo effect.  Whatever the case I'm feeling an improvement, so I'm not going to look a gift horse in the mouth (what does that really mean, anyway?) and enjoy things while they last.  

In case you're interested, here's my latest daily supplement/Rx list:

• Multivitamin, 1x day (I rotate between three brands: Centrum (1 tablet), Holistic Health Neurological Health Forumla (2 tablets), and Brainstrong Prenatal Vitamin (1 tablet + 1 DHA softgel).  No, I'm not pregnant; I take the prenatal vitamin because it has a higher dose of biotin than most vitamins.  I rotate vitamins because each is different in content and amounts.)
• 500 mg Calcium + 800 mg Vitamin D, 2x day (I take Caltrate Gummy Bites -- yum!)
• 100 mg Coenzyme Q10, 3x day
• B-Complex vitamin, 1x day (includes 100 mg B1/Thiamin, 100 mg B2/Riboflavin, 100 mg Niacin, 100 mg Vitamin B6, 400 mcg Folate, 100 mcg B12, 100 mcg Biotin, 100 mg Pantothenic Acid)
• 100 mg Vitamin B2/Riboflavin, 2x day (I only take this pill 2x day because the B-complex vitamin includes 100 mg B2.)
• 65 mg Iron, 1x day
• 25 mg Zoloft
• Yaz birth control pill
• 1,500 mg Metformin

If you are a long-time reader of my blog, you'll notice that this list is quite a bit shorter than previous lists.  The truth is that I got tired of taking so many darn pills all the time, so I decided to cut back for my own sanity.

I realize that I could possibly feel even better if I took additional supplements (NAC, ATP, potassium, fish oil, etc.) or went back on the various protocols I've tried in the past, but I just got so resentful and angry at my exploding pill box.  I had to stop the madness.

My new rule is that everything has to fit in my pill box.  If it doesn't fit, I'm not taking it!

Ugh! Non-Specific Results

The following blog entry was originally posted on 4/6. A note at the bottom was added on 4/9.

This is the story of my life -- non-specific symptoms, inconclusive results. Ugh!

MUSCLE BIOPSY RESULTS

I went to the neurologist this afternoon to get my muscle biopsy results. My results were slightly abnormal, but not abnormal enough to figure anything out. Here's an excerpt from the five page report my doctor gave me:

There are scattered atrophic fibers, most of which are type 2 fibers. This tendency for type 2 fiber atrophy is non-specific and can be seen in chronic deconditioning, steroid use, or myopathy related to underlying endocrine disorders. Specifically there are no ragged red fibers, ragged blue fibers, and all the oxidative enzymatic reactions were normal thus no evidence of mitochondrial abnormalities is present. There is no evidence of denervation, reinnervation, abnormal deposits, inflammation or vasculitis.

Impression: Abnormal muscle biopsy. Tendency for type 2 fiber atrophy.

Basically, there is no obvious evidence of any major neuromuscular disease OR mitochondrial disease, but my results were still abnormal.

I asked the neurologist about the "chronic deconditioning" and she said she typically doesn't see this degree of atrophy in people my age. She said something about 80 year-old's, but I missed half of what she said because I was still processing my results. Maybe she was comparing my level of atrophy to that of an 80 year-old. I know I am not nearly as active as most people my age or as active as I used to be; however, I am not completely inactive because I still work full time and live and work in places with stairs that I have to take.

I asked how my results compared to other people with ME/CFS that she's seen, and I was surprised when she said that she doesn't usually perform muscle biopsies on people with this ME/CFS. She said decided to do the biopsy on me because she felt my particular medical history and symptoms were such that further testing were indicated.

I commented to the doctor that I seem to receive the label "non-specific" quite often and that I keep having things just slightly wrong with me but not wrong enough for them to explain much. For a moment, I expected the doctor to tell me that this was all she could do, and I would just have to live with these non-specific results. I also thought she'd blame my lack of exercise for all my symptoms.

Fortunately, the doctor did not respond in the way I expected. In fact, she surprised me with her support.

She said what we do know is that my results are not normal. Furthermore, my results are abnormal enough that she thinks it's worth pursuing additional testing on my biopsy tissue to check for other mitochondrial diseases. I can't tell you how good it feels to have a doctor take me seriously and be so supportive in my quest for answers!

My neurologist will be in touch with the mitochondrial disease expert I met with a while back to discuss what additional tests to do on my muscle sample.

In the meantime, my neurologist is starting me on a mitochondrial disease "treatment" to see how I do. She has prescribed 100 mg of Co-enzyme Q10 three times a day and 100 mg of riboflavin (vitamin B2) three times a day (these supplements are available over the counter). Coincidentally, I had micronutrient testing done several years ago and was found to be deficient in both CoQ10 and riboflavin. For some reason I stopped taking CoQ10 (I don't really even remember why), and I switched from B2 supplements to a general B-complex vitamin that contained B2.

I guess I'm going back on the CoQ10 and B2, but this time the doses will be higher than I took before. Here is an interesting link to some treatments and therapies often used for mitochondrial disease.

SLEEP STUDY RESULTS

I mentioned a few posts ago that I had a sleep study done. My sleep study was followed by a Mutiple Sleep Latency Test (MSLT), which took up most of the day.

Several years ago my ME/CFS doctor suggested I get a sleep study because I was complaining of insomnia. To my surprise I was diagnosed with obstructive sleep apnea and prescribed a continuous positive airway pressure (CPAP) machine. I quickly stopped using the CPAP because it was noisy and kept me from sleeping rather then helping me sleep.

Because I am on a mission to look for ways to reduce my constant fatigue, I decided to get another sleep study so that I could get a new CPAP. I had my old results sent to my doctor. To my surprise, the sleep doctor I met with said that my old sleep study results seemed strange.

In fact, the five-year old document gives me the diagnosis of sleep apnea but also states that I had zero apnea incidences! What made the old sleep study results even more fishy was that they said my main complaint was excessive snoring and waking up gasping for breath. I have NEVER complained of this. What?! Had I been given a false diagnosis of sleep apnea just so they could sell me a CPAP?

The good sleep doctor suggested that I go ahead and have another sleep study done and also suggested I do an MSLT to check my daytime sleepiness. I should probably mention that I was open with my CFS/ME diagnosis from the start, but he still thought the sleep study and MSLT were options worth pursuing. I've been really lucky lately because the doctors I've seen have been aware of my CFS/ME diagnosis but still treated me with respect and didn't blow me off.

Here are the important notes from the two page sleep study report:

When I got these results from the sleep study, I felt so mad at the old sleep study company. I will refrain from jumping on my soapbox about medical ethics for now.

The MSLT was unlike anything I'd ever done before. Basically, I spent the day at the sleep study facility and was given opportunities to take 15 minute naps every two hours. The mean part is that every time after I fell asleep, they'd wake me up. It was awful! When I nap, I usually sleep for hours...not minutes.

I had inconclusive results. Surprise, surprise! My results were abnormal, but not abnormal enough to mean much. Here are the important notes from the MSLT report:

The results indicate some level daytime sleepiness but are not consistent with a diagnosis of narcolepsy.

My doctor labeled me with idiopathic hypersomnia -- meaning sleeping too much for unknown reasons.

At least my MSLT confirmed what I had always thought but never actually had any data to back up -- that I am often tired AND sleepy. "Tired" is more of a worn out feeling, while "sleepy" is the sensation of wanting to sleep.

The doctor asked if I wanted to try the medication Provigil (generic: modafinil), which is used to treat daytime sleepiness. After doing some reading, I've found that modafinil is often prescribed to patients with MS to help their fatigue. There are also some patients with ME/CFS who use the medication. Here's a 2009 article by the CFIDS Association of America on Provigil. Note: Provigil's generic equivalent is now available in the US.

I have decided to try generic modafinil (which costs me just $10 for a month's supply, thanks to my insurance company) to see if it helps me feel any better. I have some reservations about taking the drug. It is not an amphetamine, but it does have stimulant properties. I will try my first dose this weekend. I'll be sure to report on how things go!

Time for bed.

---------------
Note Added 4/9/12

I've decided to postpone taking the modafinil for a little while. I have a history of experiencing the rare and unusual side effects of medications (including anaphylaxis), so I'm waiting until my immune system calms down a little.

My immune system is currently in an allergic state because I was recently (though unintentionally) exposed to dairy/casein, so I'm dealing with itchy rashes at the moment. Some of the prepared foods I've eaten in the past few days must have had hidden dairy.

I try to ask about ingredients before I eat something if I haven't prepared it myself, but sometime either I forget to ask OR the person answering doesn't really understand food allergies and says the food is safe when it really isn't. Whatever the case may be, I am itchy.

I think these recent developments are actually good because I'll be able to see if the CoQ10 and B2 make me feel better without the use of modafinil. I'll keep you updated!

Waiting Anxiety

I'm supposed to get my biopsy results THIS afternoon.  I think I must be suffering from "waiting anxiety" because I am finding myself very distracted from everything going on around me.  I have all sorts of thoughts and feelings and "what if's" floating around in my head.

I can't decide if I want the results to be completely normal or if I actually want something to be wrong.  I guess I don't want anything too serious to be wrong, but I want something to be wrong enough  (but easily treatable!) to explain my health issues.  Am I crazy for thinking this way? 

In other news, I have to say that I really like ScarAway.  I'm not allergic to it, and it protects the biopsy site from clothing irritation.  The scar itself has not improved much in the short time I've been using the product, but I'm not concerned because I was really looking for protection rather than aesthetics. 

Quick Note: Biopsy Results Tomorrow

After more than SIX WEEKS, I am finally going to get my muscle biopsy results...tomorrow.  I just made the appointment on Tuesday, and these last few days seem longer than the six weeks I've been waiting!

I'll post my results tomorrow night. 

P.S.  To my regular readers/subscribers: I'm sorry about the recent spam!  I've deleted it from my blog; however, if it gets worse, I'll have to add a moderator approval step for comments -- which I've tried to avoid. 

Still Waiting for Results

WARNING: If you scroll down, you'll see a photo taken today of the biopsy site.  If medical photos make you queasy, don't look!

It's been four weeks since the biopsy, and I'm getting impatient; however, Callie does not seem to be concerned. 

My biopsy site is slowly healing, but it's still very uncomfortable because clothing really irritates the area.  Since going to work naked is not an option, I finally decided to do some internet research on some possibilities for protecting the area that do not involve bandaids or any kind of medical tape/adhesive (remember, I'm allergic). 

I found a product called ScarAway that looks promising (I just bought a box at the local pharmacy this evening).  It's a silicone-based product that is supposed to reduce the appearance of scars.  My main goal was to just get some sort of protection for the area because it's so sensitive, so the scar reduction is an added bonus.  I'll post my observations on its effectiveness. 

I'm not being paid nor have I received any freebies, so you'll get real life feedback on it.  As long as I'm not allergic, I'm pretty sure I'll give decent reviews because anything that helps reduce the irritation of clothes against the incision area gets big points in my book. 

Here's what my biopsy site looks like today -- four weeks after surgery:

If you look at a blown-up version of the photo, you might be able to see that the skin below the incision is still a little raw (and peeling) from the adhesives I had to use to keep the gauze on.  My skin was so damaged from the adhesives that it's still healing two weeks later! I have no idea what the little blister above the incision is from.  It popped up more recently. 

On an interesting note, I saw a mitochondrial disease specialist a week or so ago.  It was uneventful, but potentially worth it.  He contacted my neurologist and requested my muscle biopsy sample be sent to another lab for further mitochondrial disease testing.  My muscle will be sent after the current lab is done doing their review.  Of course, that means more waiting!

I also recently had a sleep study and daytime sleepiness study done.  I will write about that experience in another post.  I won't get any results for another two weeks.  It seems that all I've been doing lately is waiting. 

Waiting for Biopsy Results

I hate waiting...

...and waiting...

...and waiting...

for medical test results. 

It's been three weeks since my biopsy, and I'm still waiting for results.  In once sense I feel as though time has flown by because it's already been three weeks since the surgery.  On the other hand, I feel as though it's taking forever to get back my results. 

I'm happy to report that I can use my arm 99% normally now (hooray!).  The bruising is gone, and I no longer have to keep the biopsy site covered with gauze.  I am still not sure what the surgery site really looks like because the surgical tape is still stuck to the site, but it is slowly coming off on its own.  I suspect it will come off completely in the next few days. 

This is the most invasive medical test I've had, and I feel it's one of the most important because it could give me answers.  Of course, the results may just leave me with more questions. 

I guess I'll just have to keep waiting for now. 

-------------------------------

UPDATE 3/13/12, 10:20 PM

A recent visitor to my blog posed some good questions.  My answer started to get so long, I decided to post my answer on my blog instead of the comments box. 

Do you mind saying what symptoms you had that led to you getting these tests? I have some muscle issues and was just wondering. Also I read with the biopsy there are two ways to do it, fresh and frozen. Do you know which you had?

I'm sorry you're having muscle issues.  Unfortunately, I don't know whether my biopsy was fresh or frozen.  I suppose I can find out at some point.  I'll try to remember to ask my doctor when I get the results. 

I have a direct answer and a more roundabout answer to your question about symptoms.  The more direct answer is that I have weakness in my arms and legs that showed up in a neurological exam, and a subsequent EMG showed abnormal muscle activity that indicated some sort of myopathy.  As a result of the weakness combined with the EMG results, the doctor decided a biopsy was necessary.  I should probably mention that all my blood work for muscle disease was normal. 

I'm thinking you might want specific examples of my symptoms...  I have some trouble going up stairs.  After the first few steps, my legs start to burn from the exertion.  By the time I get to the top of the stairs, I'm out of breath and my heart is racing as if I've just run a marathon.  I can usually make it all the way up the stairs without stopping, but it takes a lot of energy. 

Things that are not heavy for most people often feel heavy to me.  Opening the outer door of an office building or pouring a drink from a gallon jug can be a challenge.  My hands don't seem to have the strength to open jars or bottles very easily (and sometimes it's impossible for me to open things).  It is too difficult for me to hold a hair dryer over my head until my hair is dry (my arms start to burn if I try), so instead I hang upside-down to dry my hair with the dryer.  Letting my arms hang with the dryer uses less strength. 

The more roundabout answer is that I always assumed my muscle weakness was from ME/CFS, so I never even considered seeing a neurologist to be screened for neuromuscular disease.  I got to my current neurologist in a roundabout way.  I started loosing my hair several months ago, so I made an appointment with a dermatologist.  The dermatologist tested me for various things including ANA.  I ended up having a positive result, which can sometimes indicate lupus. 

This result lead me to a rheumatologist for confirmation that I did not have lupus.  The rheumatologist also did a neurological exam and noticed I had unusual weakness in my legs and asked if I had ever seen a neurologist for it.  I told him I had not.  I then searched for a neurologist that specialized in neuromuscular disease, which is how I found my current doctor.  She noticed that my arms had unusual weakness during her neurological exam, so she ordered an EMG.  My EMG was abnormal, so she decided to order a biopsy. 

Please let me know if you have any additional questions.  Good luck in finding answers to your muscle issues. 

Healing Slowly from Biopsy (with photos)

WARNING: If you scroll down, you will see an actual photo of the biopsy site.  It is stitched closed, but if medical images upset or disturb you, don't look!

The healing process has been slow, and it's frustrating not being able to use my arm normally.  A day or two after the surgery, I kept experiencing what felt like electric shocks or a tearing sensation at the biopsy site.  The doctor explained that sometimes nerve endings are cut and exposed during the procedure and can cause those sensations.  They are not pleasant!  On the upside, the zapping sensations have decreased significantly since then.

Also, right after the surgery, my hand was a bit swollen, so I couldn't wear my wedding ring for several days.  The swelling had gone down quite a bit, which is nice. 

I've been developing a slow-forming bruise a few inches away from my biopsy site.  The doctor said this can happen sometimes as fluids leak within the body from the areas of incision.  Here are photos of the bruising.

The first photo was taken a day or so after the surgery, and the second photo was taken today (about a week later).  Sorry that the lighting is so different!  I put a penny on my arm for scale.  The bandage you see at the top of the photo is the area just above my elbow and is the site of my biopsy.



Here's a photo of the biopsy area.  The doctor used internal stitches, so you can't really see them.  This technique is supposed to minimize the scarring.  The stitches are supposed to dissolve after about two weeks.  The tape is holding the sutures and skin together to help the area heal better.  I'm supposed to keep my wound covered for two weeks, changing the gauze bandage at least once a day.  I also wrap the area with an ace bandage for support and protection. 

On the downside, I'm mildly allergic to adhesives, so the medical tape I use irritates my skin and makes me itchy.  It really doesn't matter what kind of adhesives I use; I'm allergic to all of them.  I've tried regular medical tape, paper tape, waterproof tape, and various other medical tapes (including those for sensitive skin and products labeled "hypoallergenic") to no avail.  I'm even allergic to band-aids.  On an even bigger downside, I'm developing an allergy to gauze!  The entire area under the gauze is pink and itchy.  Bleh.

I can't wait until my arm is back to normal.  Please keep sending me healthy thoughts!

My Achin' Bicep

WARNING: This entry may be too graphic for those who are sensitive to reading about medical procedures. 

Let me just say that the muscle biopsy I had on Tuesday was NOT fun. In fact, I'm adding it to my list of things I never want to do again unless I absolutely have to.

Fortunately, the doctor prescribed some Ativan that I could take before my procedure so that I did not have so much anxiety. 

The anesthesia that was injected into my skin felt like broken glass being shoved into my body. And that was just the anesthesia!

Once the anesthesia took effect, I did not feel the actual incision into my skin.  However, they could not use anesthesia on the muscle itself because it would potentially damage or contaminate the sample.  The doctor made a two-ish inch incision into the skin of my bicep and cut out a few small pieces of muscle. 

As expected, the cutting of the actual muscle hurt like crazy.  I couldn't move much because they had my arm strapped down.  At least the procedure went pretty quickly.  The doctor sewed up the incision with internal stitches that are supposed to heal with a less obvious scar. 

My arm still hurts, but mostly when I move it.  I'd keep writing, but I'm tired now.  I've taken Tylenol with Codeine.  It doesn't stop the pain, but it dulls it.  I'll write more later!

Muscle Biopsy Scheduled

Well, I've scheduled my muscle biopsy.  I was able to get an appointment for Tuesday, February 21 -- sooner than I expected.  That's next week!

I'm honestly very nervous about this procedure because they'll be cutting a chunk of muscle out of my left arm (bicep).  It's called an "open biopsy" because they actually open up the skin and muscle. 

I will be wide awake with only a local anesthetic to numb the pain of the initial incision; however, the muscle itself will not receive any pain medication.  They said numbing of the actual muscle can damage the sample.  I wonder if they'll at least give me something to relax.

The doctor said I will feel the cutting of the muscle.  I don't know about you, but that sounds horrible to me.  And painful.

Random Thoughts - Waiting for Answers

After so many false alarms with my health, especially in the last few years, I'm just not sure how to react any more to possible new diagnoses. I feel like I've been on a bunch of wild goose chases. 

A few years ago, a GI doctor suspected Celiac Disease and tested me for it.  The whole time I was waiting for the results to come back, I was mourning the potential loss of gluten and all that is good in the world. The test came out negative, indicating I did not have the disease.  (I ended up going on a gluten-free diet about two years later anyway.)

A couple years ago (has it really been THAT long?) I was misdiagnosed with epilepsy and put on anticonvulsant drugs that nearly killed me.  I spent a year believing I had epilepsy.  A second opinion from an epilepsy specialist confirmed that I did NOT have epilepsy and never had any symptoms that would indicate that I had it.  I am still emotionally scarred from this experience. 

A few months ago, I saw a dermatologist because I had been losing my hair like crazy.  She did some blood work, and my ANA came up positive.  ANA is an indicator of autoimmune diseases such as lupus.  The dermatologist suspected lupus or another connective tissues disease and referred me to another dermatologist in her practice who specialized in autoimmune diseases.

I spent weeks worrying that I had lupus until all the follow up tests came back negative.  I sought a second opinion (or would it really be a third opinion?) from a rheumatologist who specializes in autoimmune diseases. who confirmed I do not have lupus or any other autoimmune disease even though I have an elevated ANA.  It's important to note that this rheumatologist is the one who suspected myopathy and suggested I see a neurologist. 

Now I've seen a neuromuscular disease specialist (neurologist) who suspects mitochondrial myopathy.  From my very first visit with her to the EMG testing and follow up visit, she has been  consistent in her suspicions about my potential health problem, honest about the limitations of testing, and eloquent in the way she has explained things to me.  She acknowledges that my problems may be a result of my CFS, yet they may be a result of an actual myopathy. 

I like her because she comes across as extremely knowledgeable but very accessible.  She speaks to me as an intelligent human being (I've seen so many doctors who treat me like an idiot) and uses medical terminology, but explains with great patience if I need clarification or don't understand a term she has used.  She is compassionate yet professional. If only all doctors could be like her. 

Still, I'm not sure how to feel about this new path I'm headed down.  I have so many questions and concerns, but I'm trying to keep a lid on them because there is no use hypothesizing about the "what-if's" if I don't have a diagnosis.  I feel as if I need to put emotions on hold because all the previous times I've worried about a possible diagnosis, it turned out that I had merely wasted energy worrying for nothing.

It will probably be a couple of months before I get any answers.  It's likely my biopsy appointment won't be for another couple of weeks (I have to call Monday to schedule), and the doctor said it would take up to three to four weeks (or was it two to three?) for them to do a full analysis.

Oh, well.  There's really nothing I can do now but think happy thoughts, live my life, and wait.

I hate waiting!

Myopathy Suspected, Biopsy Ordered

The title pretty much sums it up. 

On Friday I had my follow-up appointment with the neurologist who specializes in neuromuscular diseases.  My blood work was normal (i.e., no abnormal muscle enzymes), but my EMG had  abnormalities.  The EMG results suggest a possible myopathy, so the doctor wants to do a muscle biopsy to look for metabolic or mitochondrial myopathy. 

Here is the EMG summary:

1. Motor and sensory conductions of the right arm and right leg were normal.
2. EMG of the right arm, right leg, and right shoulder and hip girdle muscles showed minimal short duration units in proximal muscles of the leg > arm.  No fibs or positive sharp waves were observed.  EMG of the thoracic paraspinal also showed slightly more short duration units than expected without any abnormal spontaneous activities. 

Comments: Minimal amount of short duration units in proximal muscles of the legs > arms/paraspinal.  These findings are suggestive of possible underlying myopathy.  

I haven't scheduled my biopsy yet, but I plan to call on Monday to get an appointment.  I'll be getting the biopsy on my left arm.  I'm nervous because the doctor said the procedure will be very painful and I won't be able to use my arm to lift anything (including laundry) for two weeks.  Well, at least she's honest.

Update February 12:  I thought I'd explain the results a little better.  It's my understanding that there were abnormalities in all the muscles they tested but my legs and arms were the worst, with my legs showing even more abnormalities than my arms. 

Mitochondrial Myopathy?

I saw the neurologist who specializes in neuromuscular diseases about a week and a half ago.   I was impressed that she took such an extremely thorough medical history.  She was very interested in my early health history and early manifestation of CFIDS.  She did a full exam, including basic strength tests of my arms, legs, and neck muscles where I had to push or pull against her arms.  

At the end of the exam, she said she did not think that I had metabolic myopathy, but she DID suspect mitochondrial myopathy.

Mitochondrial myopathy? 

I told her I'd always assumed my muscle weakness was from ME/CFS. She said it is entirely possible that it is CFS and not mitochondrial myopathy, but she wanted to do some tests to be sure.  She ordered a bunch of blood work and an electromyogram (EMG) and nerve conduction study. 

It's funny that she mentioned mitochondrial myopathy because I began wondering if I should get tested for mitochondrial disease since the end of 2011.  I've read that one of the symptoms of mitochondrial disease (especially in adults) is CFS-like symptoms.  Learn more about mitochondrial disease in adults. 

There are also some doctors and researchers that believe ME/CFS is a form of mitochondrial disease, or at least involves mitochondrial dysfunction. 

• Dr. Lucy Dechene: Mitochondrial Dysfunction, Post-Exertional Malaise, and CFS/ME 
• Dr. Sarah Myhill: CFS - The Central Cause: Mitochondrial Failure
• Dr. David Bell: ME/CFS as a Mitochondrial Disease
• Columbia University Clinical Trial: CFS: A Presumptive Mitochondrial Disorder

I had the EMG two days after my initial appointment with the neurologist.  Let me say that the nerve conduction study and EMG were just about the most unpleasant medical procedures I've ever had... and I've had colonoscopies, a lumbar puncture, and quite a few "annual exams." 

Getting shocked repeatedly followed by the repeated insertion of long needles into various muscles throughout my body is not my idea of a good time.  What's worse -- I had to move and contract my muscles with the needle IN me!  Ugh.  I was physically wiped out for over a week after the tests. 

I'm getting my results this Friday.  Regardless of the results, I know I will be seeking a second opinion.  As I've mentioned previously, ever since my MISdiagnosis of epilepsy, I vowed to always seek a second opinion when it comes to major conditions -- either to confirm that I do or confirm that I don't have whatever I'm supposed to have (or not have).  I recently gained some peace of mind after seeing the rheumatologist who confirmed I do not have lupus. 

I will be seeing one of the leading experts in mitochondrial disease in March.  I actually made this appointment back in November or December when I first thought I wanted to get tested.  Interestingly, I did not mention mitochondrial disease to the neurologist I'm seeing now because I wanted to get her objective opinion of what is wrong with me. 

I'll try not to wait too long after my appointment Friday before I post an update. 

It's not Lupus, but...

Has it really been two months since my last post?  I really have no idea how time can be passing so quickly...sheesh!  Well, Merry Christmas, Happy Hanukkah, and Happy New Year!

I went back to the dermatologist to review my results with her, and she said I do not have lupus.  All my follow up tests had come back normal.  She did not have any suggestions as to why my other tests were abnormal or why I was losing my hair.  She suggested I use maximum strength Rogaine for men and come back in a few months. 

Uh, no thanks.  I will not be going back to a dermatologist who doesn't even examine my hair, skin, or nails. 

After my last experience with a specialist (i.e., when I was MISdiagnosed with epilepsy), I vowed to always seek a second opinion when it comes to more complex diseases and conditions.  I made an appointment with a rheumatologist recommend by my local Lupus Foundation chapter. 

The good doctor took a very thorough medical history and did a full exam.  He confirmed that I did not have lupus, but he noticed that I had unusual muscle weakness.  He asked if I had ever been to a neurologist for the weakness.  I told him no because I had always assumed it was Chronic Fatigue Syndrome.  He suggested the possibility of a metabolic myopathy. 

Metabolic what?

Sigh.  I often dream of what life would be like if I were normal and healthy and not scheduling medical appointments with specialist after specialist.  Wouldn't that be nice? 

Deciding to follow up on this new possibility, I ended up making an appointment with a neurologist who specializes in neuromuscular diseases (I didn't want to take any chances going to a general neurologist again).  I'll write more about my initial appointment in my next post.