Monday, April 9, 2012

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!


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.


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!


Diane said...

So sorry that there wasn't enough information found yet to figure out what the diagnosis is...

But, I am tickled that you have found a wonderful and supportive neurologist! Glad she is checking with the Mito specialist to figure out the next stage of testing.

Fingers crossed the supplements are helpful- it seems that the supplements help adult symptoms more then children- so fingers crossed!

alyson said...

Hi Diane - I'm thrilled to have found such an amazing neurologist! I have to keep pinching myself. She is the only specialist I've ever met who has been so willing to help me on my quest for answers. She even admitted she doesn't see many possible mito patients, but she has been on the phone with a couple different mito experts who are helping to advise her. Wow, wow, wow!

Treya said...

Oh God Alyson... I know only too well how you feel. THe big worrying build up to nerve damage results, then the news of not much. Of course it is encouraging to know you don't have nerve degeneration. BUt It is SO frustrating to once again get answers. I was through all the same a few months back...

You have one thing up on me : ) At least your doc wants to investigate further.

I do hope you get some answers, and with them some relief. It is so draining, and I often swear I am never going for another single test again.

Best of luck!!!!

Treya said...

get 'no' answers I meant to say.

alyson said...

Hi Treya -- Thanks for checking in! I know what you mean about not wanting another test. Over the years, I've gone back and forth between avoiding doctors and seeking them out in my search for answers. Hope you're doing well!

Irene said...

Hi Alyson! Oh my. There is just so much to think about here. I've just arrived.
What strikes me most is the itching. Trust me, there is SO much here, yet it's the itching that I can't help but focus on.
Yesterday I went off my "diet," the one I try to stay on which works for me. It was back to "my way of eating" after two years of incredibly horrid and near tragic results with not-the-norm-for-us medical crises in our family that have been non-stop. But right after Easter I was ready to finally concentrate on myself. (Basically I'm bedridden 24/7 with exceptions here and there, getting progressively worse each year.) Though I eat cheese, I don't drink milk, eat's just what I've come up with. Well, today I've been going crazy with itching, waking me up after FINALLY falling asleep. (I have a history w/ hives, etc, and take meds against them.)
My husband and I have been trying to figure out what I did differently to bring on the hives. The thing that stood out most was going to the dentist for the first time in 2 years...the stress of getting ready, waiting, getting worked on, even more lack of sleep. But maybe the dairy did it.!?!
It's all so complex. Honestly, after 37 years of this CFIDS/ME/fibro, severe insomnia, migraines, etc., etc.,etc. nightmare you'd think I'd have it worked out by now!
I finally got fed up enough and desperate enough with everything to where I started a blog back at the end of February. I have few computer skills but I jumped into it feet first and am learning as I go along. I know Treya...but admit I've not had a chance to look around. I think my brain has simply fried from what I HAVE seen here so far. I am sooo glad I found this site and am looking forward to reading more after my brain unfreezes - and I stop itching!!!
Oh! My blog is
I hope you and/or some others will take a look. It's been "interesting" joining the blogging world and I'm enjoying it. Sorry to have gone on so long!
Hope everyone's doing as well as can be....

alyson said...

Hi Irene! Thank you so much for visiting my blog and for sharing a little about yourself. I apologize for taking so long to reply to you. Things have been challenging lately...but I'll write about that in a post sometime soon. I'll be adding your blog to my blogroll.