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. 

What I'm Thankful For

Despite all my latest health issues, I still have things to be thankful for. Here's my Top Ten list:

1. My health. When it comes down to it, I am still thankful for the health that I have. It could be so much worse. It has been so much worse.  Just last year I was brought to an ER via ambulance.
2. My husband, who has stuck with me on this roller coaster of chronic illness. Even though I can get ridiculously emotional when I'm feeling particularly awful, he still loves me!  
3. My parents and brother, who have given me both moral support and space when I need it. They don't live nearby, but they are there when I need them.
4. My in-laws.  They accepted me into the family with open arms. We spend every Thanksgiving with them.  We're about to head over to their house now.
5. My cat, who is the best snuggler when I'm feeling especially sick or blue. In fact, right now she's sleeping next to me with a paw on the keyboard.
6. My primary care physician, who is also my CFIDS doctor. Her willingness to use unorthodox treatments is why I went from two years of severe illness (before I was diagnosed) to being able to work full time.
7. My current job. First, I'm thrilled that I am healthy enough to work and have a job I enjoy, even in this economy. Second, this job is less physically taxing than my last one, so I appreciate that I don't have to use as much energy.
8. My medical insurance. Despite all the frustrations and red tape associated with medical insurance, it has kept us from financial ruin because of my health expenses. So many people are without the luxury of being able to get the care they need because of finances.
9. Technology. Computer, internet, and phone are my lifelines to the outside world. TV and Netflix keep us entertained (though I'm not thrilled about the fee hike).
10. Tween books and movies. I'll admit it. I love that stuff.

To those who celebrate: Happy Thanksgiving! 

P.S. I see there are some comments in previous posts that I have not yet replied to.  I promise I will respond after Thanksgiving!

Lupus or Not?

I had my appointment with the "specialist" today.  I put quotation marks around "specialist" because I'm using that term loosely. It turns out that she was another dermatologist in the same practice who sometimes sees patients with cutaneous lupus, which I'm pretty sure I don't have because I do not have the typical scaly rashes associated with the disease.  I was expecting someone who was actually familiar with autoimmune diseases in general, including the systemic version of lupus. 

Here's why I think the doctor did not do a good job. My blood pressure and temperature were never taken.  I was wearing jeans and a sweater, yet she never asked to examine my skin. She did not examine my nails (which, by the way, are soft and have some pitting). She never looked at my scalp or examined my hair (which I'm losing), which was my main complaint to begin with. She never asked about my energy level (terrible fatigue), lymph nodes (they're sore), any rashes (eczema and past photoallergic reaction), etc., etc., etc.

What she did do was tell me she didn't think I had lupus or any sort of autoimmune disease....based on what? I'm not sure.  She simply said I didn't fit the criteria. Considering she didn't ask me many questions or do any examination at all, I don't really know what "criteria" she was referring to.

I can only guess that she was referring to the lupus diagnostic criteria developed by the American College of Rheumatology; however, she never asked me about most of those symptoms, and I'm pretty darn sure it's impossible to know how someone's urine is doing without a test.

Don't get me wrong. I don't actually want lupus.  Heck, I don't want CFS/ME or anything else for that matter.  I just want to know what's wrong with me, and I would like a doctor to be thorough. If I'm seeing a dermatologist, I would expect that person to examine my skin, hair, and nails. She did exactly none of the above.

What she did do right was order some appropriate follow-up tests (in no particular order):

• Anti RNP: often found with many autoimmune diseases
• Anti Ro/SS-A and Anti La/SS-B: often found in people with Sjogren's syndrome or cutaneous lupus
• Anti Scl-70: often found in people with scleroderma
• Rheumatoid factor: high levels often found in people with rheumatoid arthritis
• Anti double-stranded DNA: found in 30 to 50% of people with lupus
• C3 and C4 Complement Proteins: low levels may indicate active lupus (or other infections)
• C-reactive protein: high levels indicate inflammation, people with active lupus or other types of inflammatory diseases or other infections often have high levels
• Erythrocyte sedimentation rate (a.k.a. sed rate): people with active lupus (or other infections) often have high levels
• Thyroid peroxidase antibodies: presence indicates autoimmune thyroid disease
• Hepatitis panel and HIV: I'm not entirely sure why she ordered these because I don't have symptoms or risk factors, but whatever...

What she didn't order, but I think she should have are: urine test (presence of protein indicates problems with the kidneys) and Anti-Sm antibody (found almost exclusively in people with lupus; 20 to 40% of people with lupus have it), parasite tests (some of my most recent blood test results could indicate allergic response, autoimmune disease, other illness, or parasites).

What she didn't order, but could have because they wouldn't be a bad idea: anti-histone (sometimes found in people with systemic lupus, but often found in drug-induced lupus), anti-phospholipids (found in approximately 30% of people with lupus).

In case you were wondering where I was getting my data and suggested tests, here are the links to the Lupus Foundation of America and the Johns Hopkins Lupus Center.

Speaking of blood test results, the following things were normal (or at least normal for me) for the tests the original dermatologist did about a week and a half ago: RBC, Hemoglobin, Hematocrit, MCV, MCH, MCHC, RDW, lymphocytes, monocytes, platelet count, ferritin, glucose, free T4, TSH, RPR (syphilis), DHEA. Here's a link to understand what some of the acronyms stand for.

The following results were abnormal:

• ANA -- high, speckled and homogeneous patterns present -- 1:160 (expected range < 1:40)
• Read about possible reasons for high ANA.
• White Blood Count -- high -- 13.1 K/UL (expected range: 4.0-11.0)
• Read about possible reasons for high WBC.
• Neutrophils -- low -- 28% (expected range: 40-74)
• Read about possible reasons for low neutrophils.
• Eosinophils -- high -- 30% (expected range: 0-7)
• Read about possible reasons for high eosinophils.
• Basophils -- high -- 3% (expected range 0-2)
• Read about possible reasons for high basophils.
• Testosterone -- low -- < 17 NG/DL (expected range 17-76)
• Read about possible reasons for low testosterone.

Obviously, something is going on in my body.  I am anxious to get the results of the tests they drew blood for today, but it will be at least a week or two. The doctor today did also mention one thing that makes good sense. She said if my follow-up blood tests come up negative/normal, it might be a good idea for me to see an immunologist.

In addition to the wacky immune system results above, I have chronically low Natural Killer cells (not unusual in people with ME/CFS). On a side note, I found an interesting web page with info about NK cell deficiency. I have never heard of this website before, so I have no idea how legitimate it is. Read at your own risk.

At some point after I get all my results back, I will be seeking a second opinion. I am tempted to see a rheumatologist/immunologist who specializes in lupus and other immune system diseases. That person might be able to sort through all my weird results and help figure out why I'm losing my hair!

I'm exhausted. Good night!

I'm Losing My Hair (Part II): Visit to the Dermatologist

My visit to the dermatologist on Friday, November 11 was a blur because I was just so shocked that she could easily see my hair loss. I didn't even have the chance to tell her I had collected hairs to prove I was losing an unusual amount of hair each day. She could see the loss clearly.

I told the doctor I had a history of hair loss presumably due to medications. She went through several additional reasons why I might be losing hair. Here are the ones I remember her mentioning:

• Genetics (i.e., female pattern hair loss)
• Extreme stress
• Major physical event (such as a severe illness)
• Nutritional deficiency, usually iron
• Thyroid problems
• Certain diseases (She did not mention any particular ones.)

She didn't mention PCOS, but I have read that some women with this condition experience hair loss, so I asked her to also check my hormone levels. The dermatologist ordered the following blood tests (in alphabetical order):

• ANA - the presence of antinuclear antibodies can indicate autoimmune diseases such as lupus, which can cause hair loss
• CBC - complete blood count, a general overall blood test to check for abnormalities in the blood
• DHEA - dehydroepiandrosterone, a hormone that at high levels is sometimes associated with hair loss
• Ferritin - the protein that binds to iron in the blood, there is some evidence that low iron can lead to hair loss
• Glucose - sugar in the blood, diabetes can cause hair loss
• RPR - rapid plasma reagin, a screening test for syphilis, which is known to cause hair loss
• Testosterone - a hormone indirectly associated with scalp hair loss (as well as unwanted hair growth)
• T4, Free and TSH - thyroxine and thyroid stimulating hormone, both hypothyroidism and hyperthyroidism can cause hair loss

The doctor really needs to work on her bedside manner because she said that if all the blood tests came back negative, there was nothing she could do to help me. Sheesh, talk about a morale crusher.

After I left the doctor's office, I was very upset. I was sad that my hair loss had been confirmed and angry that the doctor left me feeling hopeless (I assumed everything would come back normal like it nearly always does). I took the confirmation that I really was losing my hair quite hard. I cried... a lot.

Even though I didn't have any sort of diagnosis yet, the knowledge that I really was losing my hair was enough to shake my confidence. I entered a weird state of mourning over my past and future lost hairs, not knowing if my hair would ever grow back to its former thickness or if I would continue to lose it until it was too obvious for others to miss.

I feel guilty that I am so sad about something so superficial as hair loss; after all, it's not as though I'm dying or horribly disfigured. In fact, at this point, most people can't tell my hair is thinner than it used to be. I know it's what's inside that counts and that we all have inner beauty (blah, blah, blah), but I can't help how I feel. I suppose I need time to adjust.

I heard back from the dermatologist a week later on Friday, November 18. She left a message that said that my lab results were abnormal and I had elevated ANA levels. She said my results may indicate lupus or some other type of autoimmune or connective tissue disease, so she wanted me to see their specialist.

Lupus?! I did not see that coming. I've been tested for autoimmune diseases at least twice before (in 2005 when I got my initial ME/CFS diagnosis and again in 2009 when I participated in CFS medical research), and both times came out negative.

More tears. I was hoping for something simple like low iron. All I have now are questions. Is it possible that I've developed Lupus in addition to CFIDS? Has it been Lupus all along? Or was this test a false positive and am I wasting emotional energy? If it is an autoimmune disease, how sick will I get? If it's not Lupus, then I still don't know why I'm losing my hair...

I can't quite explain why I'm so upset. Maybe it's because I've gotten used to ME/CFS and have already experienced its range -- from being so sick that I couldn't have a job and slept up to 20 hours per day to having a full time job and being mostly functional. I understand ME/CFS; I generally know what to expect. Lupus is foreign and new.

Coincidentally, I had an appointment scheduled with my CFIDS doctor today. I told her about the recent events, and she was not particularly concerned about my ANA results. She said she often sees elevated ANA levels in people with fibromyalgia (I should mention that I've never actually been diagnosed with fibro) and that her lupus patients usually had much higher levels than my modestly elevated 1:160.

I felt a lot better after my visit to my CFIDS doctor. She has a much better way of conveying information than the dermatologist who did not do a good job of offering hope.

Obviously, I will be having more tests done, but I hate waiting and wondering about the unknown.

My appointment with the autoimmune specialist is tomorrow. I will be going in armed with my medical history, questions, and research. No matter what happens, though, I will be seeking a second opinion. I have learned my lesson in going with single opinions in significant health matters.