Not Mitochondrial Disease. Probably Not Lupus, but...

I'm up later than usual because I was home sick and slept nearly all day.  

Yesterday I received the last of my nuclear DNA test results.  After both my mitochondrial DNA and nuclear DNA test results showed nothing of clinical significance, it's pretty safe to say I don't have mitochondrial disease.  They did find a few interesting abnormalities, but nothing that warrants a diagnosis.  I'll try to remember to give specific explanations and results from the tests in a future post.  

I received my ANA results by telephone today.  If you'll recall, I went to a dermatologist for rashes I'd been getting lately, and she mentioned the possibility of lupus (see Looking for Lupus AGAIN?! and No Skin Biopsy For Lupus. Blood Test Instead.).  

The nurse who called me said that my ANA level was the "same" as my last ANA level.  She said my ANA was 1.6.  I was a little confused.  My ANA result in 2011 was 1:160.  Other than having ones and sixes in both numbers, I didn't really understand how those two numbers were the same.  

Just to make sure I was hearing things correctly, I repeated the numbers back to the nurse.  "So a 1.6 is the same as a 1:160 result?"  She said yes.  She continued and said a 1.6 is a "negative" result and a positive result would be in the "tens of thousands."  I tried to get clarification about the numbers, but she wasn't able to answer my questions very well, so I gave up.

It's my understanding that a 1:160 ANA is considered a positive result (albeit not that high).  If a 1:160 is positive and a 1.6 is "negative" (according to the nurse), how can these numbers be "the same"?  

The nurse assured me I didn't have lupus because my result wasn't "high enough."  Something being "negative" and something being "not high enough" mean two different things to me.  I wondered, how could she know that I don't have lupus if the doctor never asked me about any of my symptoms other than the rashes?  I can only assume she was repeating what the doctor told her to tell me.  

The nurse then said I should get monitor my rashes and be sure to come in as soon as they flare up again.  She also said the doctor thought I should get my ANA retested in six months.  Okay, if my results were "negative" and they don't think I have lupus, why would I need to get retested in six months?  

After I hung up I tried to find something online that has a comparison chart of the two values.  No luck!  however, I did find a couple of message boards with people mentioning having a 1.6 and getting treated for lupus.  Very confusing...

I've decided to go see the same rheumatologist I saw two years ago the last time someone else suspected lupus.  I have an appointment with him for about four weeks from now, so I am again in a wait-and-see mode.  I have great respect for this rheumatologist because he's the one who figured out I have fairly significant muscle weakness and suggested I see a neurologist.  

I'm also glad I'm going to see him because I've been having pain and stiffness in my finger joints on and off for the last few months, and I wanted to ask him about that.  

I also plan to make an appointment with my neurologist (I will probably call tomorrow).  Though my energy levels have improved dramatically thanks to the high levels of CoQ10 I've been taking, my muscle weakness seems to be worse lately.  I'm not sure if it's because I've been more active (too active?), or if it's something more problematic.  

Anyway, that's the update.  Good night! 

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!

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.