Part II: It Still Might Be Lupus or Not...

I have to apologize for taking so long to follow up with my last blog post. I took a bit of a hiatus from blogging (as I do from time to time) to focus on myself.

I'm thrilled to report that I'm the happiest and HEALTHIEST I've been in many years!  :)

Here are updates from my last post Part I: Um, So It Might Be Lupus...:

* The skin biopsy results were inconclusive.  They showed inflammation and allergic reaction, but they didn't prove lupus.  However, they didn't disprove lupus.  Basically, I have two new scars on my arm for pretty much no good reason.  They go well with my muscle biopsy scar on the other arm.

* I love my neurologist. Period. She is one of the most supportive doctors I have encountered in my entire life (and I've encountered a LOT of doctors).  Based on my positive ANA, the skin rashes that appeared after extra sun exposure, and the achy finger joints, she agreed that my symptoms seem autoimmune.  She knew I was going to see a rheumatologist and told me that if my rheumatologist didn't want to put me on Plaquenil, she would just to see if it would help. 

* I saw my rheumatologist, and he agreed that my symptoms seemed autoimmune in nature and put me on Plaquenil.  I still do not meet enough criteria to get an official diagnosis of any particular diagnosis, but he strongly suspects that is the cause.  Though I don't have an official diagnosis, what I seem to have could be called "undifferentiated connective tissue disease."   He wants me to stay on Plaquenil for about six months before we decide whether or not it's helping me. 

* Interestingly, I've also seen a geneticist.  I was referred to her several months ago by my primary care practitioner because of all my seemingly unrelated symptoms.  The geneticist suspects something called Ehlers-Danlos Syndrome, a type of genetic (NOT autoimmune) connective tissue disease.  (Click on the hyperlink to learn more.)  Many people who have EDS were originally misdiagnosed with things like lupus, rheumatoid arthritis and/or fibromyalgia.  Hmmm...very interesting. 

In my next post, I'll go into more detail about these latest developments and explain why I think I've been feeling so healthy. 

Until next time!

Part I: Um, So It Might Be Lupus...

Wow.  This month has been full of medical drama with skin biopsies, ignorant nurses, and arrogant dermatologists with a couple of amazingly awesome doctors sprinkled in.

Read my entry Not Mitochondrial Disease, Probably Not Lupus for background.

I received the copy of my ANA results, and they were indeed the same as my previous results (1:160).  Though the nurse told me over the phone that my results were negative, 1:160 is a POSITIVE result and the report actually says "positive" by my number.  I know nurses are human and make mistakes, but telling someone test results are negative when they are actually positive is a major error!

In the meantime my sun rash came back, so I went back to the dermatologist's office assuming I was going to get a biopsy and saw a different doctor in the same practice.  That doctor took one glance at my rash and told me I had keratosis pilaris, which is pretty much like acne.  He didn't look closely at the rash or ask me any questions about my symptoms.  I told him the previous two doctors had mentioned lupus or PMLE as possibilities and asked him about getting a biopsy.  He said a biopsy wasn't necessary because I couldn't have lupus since my ANA was negative.  I told him I had a 1:160.  He looked surprised and said "oh, that's positive."  He then looked at the nurse (the same one who called me before) and said to her: "I thought you said it was negative."

The doctor ended up doing a scrape biopsy on the inside of my right arm, where there was no rash.  I told him that I was confused because it was my understanding that I was supposed to get a biopsy of the rash area.  He said there was no point in doing a biopsy where the rash was because it would only show keratosis pilaris.  Really?  He was that sure of his diagnosis.  He would not answer my questions about lupus or PMLE and dismissed my concerns about doing a biopsy on an area of active rash.

After he left, I tried to get clarification with the nurse, but she was extremely rude and mean to me (probably because she was mad she got in trouble for giving the doctor incorrect info about my ANA results).  When I said I was just trying to get answers to my health questions and figure out why I wasn't a normal thirtysomething, she responded in a terrible tone saying that she's not normal either and everyone has problems.  Ouch.

Yup.  With one comment she completely dismissed the last 15 years of my life -- the years I couldn't work, the ER visits and  hospitalizations, the times on disability, the times I had to be pushed around in wheelchairs because I was too weak to walk, the anaphylaxis, the hair loss, the isolation, the tears.  I realize the nurse must have been having a bad day, but she still managed to make me feel completely crushed and invalidated.  I cried a lot that evening.

The next day or so I decided that I needed to go back to the dermatologist -- the first one who actually suggested the possibility of lupus -- for a biopsy of the active rash area because I didn't know how long my sun rash would stay around.  I got an appointment with her that afternoon.  I told her about my experience with the other doctor in her practice, and she defended him.  Even though she did not think my rash was keratosis pilaris, she defended him and said dermatologists really hate it when patients question their diagnoses.  I was still feeling pretty emotional about my previous encounter, so I immediately burst into tears.    

The doctor backtracked a little and said she understood how frustrating it can be for patients trying to get answers.  She also said it would be a good idea to have a biopsy of a rashy area.

I need to go to bed now.  I'll write more another day.  I still have to talk about my recent neurologist and rheumatologist appointments, as well as the skin biopsy results, of course.

By the way, I do NOT have keratosis pilaris.

Stay tuned...

No Skin Biopsy for Lupus. Blood Test Instead.

I didn't have the skin biopsy after all.

When I got to the doctor, she did not think the rash was "active" enough to warrant a biopsy, so she ordered an ANA blood test instead.  (For the record, my rash was not active at all when I first went to the dermatologist, which is why I didn't have the biopsy then.)  To her credit, she doesn't believe in doing a biopsy if the information obtained might not be helpful.

It turns out that the type of biopsy she wanted to do is called a "punch biopsy," which involves cutting out a small chunk of skin about the size of a pencil eraser (imagine a paper hole punch).  After that lovely image, I'm actually ok not having the procedure just yet.  I still have unpleasant memories (and a nasty scar) from my muscle biopsy. 

I still may have a punch biopsy, but it will depend on my ANA blood test results and if/when the rash comes back more strongly.  The doctor said I could just call the office during normal work hours as soon as my rash reappears and I'll get scheduled for that same day or first thing the next day (assuming it's not a weekend). 

The doctor also thinks it's entirely possible that my rashes are due to Polymorphous Light Eruption (PMLE), which some consider a kind of allergy to the sun; others call call it "sun poisoning."  (Here's some info from the Mayo Clinic.  If you're a science nerd, read the medical explanation on Medscape.)

If my ANA comes back negative or really low, I probably have PMLE.  If it's positive, it's probably lupus.  Either way, I have something.  Knowing my weird body, I'm probably allergic to the sun.  Fun times.

At this point, there's nothing for me to do except wait for my ANA results.  I should be used to waiting for medical test results by now, but I'm not.

I hate waiting!  

To be honest, I wouldn't mind a lupus diagnosis because it would give me something definitive that most doctors would both believe and understand.  I look so young and fit on the outside that I have a hard time getting doctors (and others) to understand how miserable it can be to live in my body.

I have so many random symptoms which are not typically associated with ME/CFS that I'm no longer convinced I have it.  On the other hand, I'm not convinced that I don't have it (can I use a double negative?).

I'm not scared of lupus.

A lupus diagnosis really wouldn't change much for me; it would neither cure me nor make me worse.  I would still live the way I'm living and feel the way I'm feeling.  The fundamental shift would be in the way others perceive me. 

More would believe me without question.

Looking for Lupus AGAIN?!

I know I still have to write an update on my nuclear DNA and CoQ10 tests, but something more pressing has come up that I thought I should blog about...

I'm getting tested for lupus again.

I've been tested for lupus at least three times before.  There's not actually a specific test for lupus, but I've had ANA and other related tests done.  The first two ANA tests (in 2005 and 2009) were completely negative.  The most recent one in late 2011 was mildly elevated (1:160) but not high enough with the right constellation of symptoms to warrant any kind of diagnosis.  You can read about my previous lupus excitement here (Lupus or Not? and It's Not Lupus, But...).

Unfortunately, this time around does not involve a simple blood test.  I am scheduled to get a skin biopsy tomorrow.  Ugh.  The reason for the biopsy is because for the past couple of years I've been getting random rashes.

At first, I thought the rashes were from something I was eating, then I thought they might be from my laundry detergent.  After paying closer attention to what I ate and switching laundry detergents, the rashes still seemed to come and go randomly.  Eventually, I realized that the rashes were showing up in the same places as my first photoallergic rash from 2011 (see September Already? July was Itchy.)

I complained to my allergist about my worsening rashes, and she referred me to a dermatologist because the rashes were not like my normal eczema.  I went to the dermatologist last month, thinking she'd give me a different topical medication or suggest ways to figure out what I'm allergic to.

To my surprise, the dermatologist asked if I had ever been tested for lupus.  I told her about my past ANA results, and she was intrigued that my last ANA came back a bit elevated.

Long story short, I'm getting a skin biopsy tomorrow.  In addition to looking for signs of lupus, they're going to look for another condition that has to do with being allergic to the sun (yes, you read that correctly).  Whee...

I'm nervous about the skin biopsy because I don't know how much they are going to take, if it will hurt, or if I'll need stitches.  My last biopsy was a muscle biopsy, and it was truly awful.  I realize skin is not as deep as muscle (I did learn something in 9th grade biology), but I really dislike not knowing what to expect.

Anyway, I'll keep you updated!  Must sleep now...

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!

September Already? July was Itchy.

Update 10/10/2011: Scroll down to see a picture of the rash!

I'm really not sure how it got to be September. Didn't I just write about being bloated? I got my results back and it turns out I did have candida overgrowth.

Soooooo much has happened since I last wrote. In later July my hubby and I went on vacation to a beach area. I'm pretty sure I spent more time outside that week than I'd spent in the last few years. I really hate sunburns and I had no desire to get a tan, so I used LOTS of sunscreen. Despite my best efforts, I still managed to get a little bit of a tan.

No big deal, right? Ha! It's me we're talking about. 

A few days after getting back home, I started to develop a rash on my forearms. What was different about this rash was that it seemed to be spreading only to areas that I got the most sun. I went to my allergist's office and saw her physician's assistant. I told him I was concerned that I was having some sort of photoallergic reaction. He didn't think that was likely (because such reactions are very rare), and he tried to convince me that it was heat rash. Um, heat rash happening days later? Only on the most sun-exposed areas? Sure.

The rash started to spread and eventually covered my the back of my hands, outside of my arms (up to a short sleeve line), part of my neck, and an area shaped like a V on my upper chest imagine the shape of a a V-neck shirt). I was uncomfortably itchy.

I decided to take matters into my own hands, so I got online to find out what kinds of medications can cause photoallergic reactions. It turns out that pretty much anything can cause a photoallergic reaction in someone; however, certain medications are more common than others. Sunscreen is a common culprit, but I ruled out my sunscreen because the rash was not going away even though I was no longer using the product.

At some point I discovered that birth control pills can cause photoallergic reactions. Furthermore, the reaction is often delayed -- occurring 42 to 72 hours after sun exposure.

Based on the medical article I found, I decided to stop my birth control pill for a week to see if I started to see improvement. Up until that point, there was no improvement despite high doses of antihistamines and prescription steroid creams. I thought I might not be improving because the birth control was still in my system and my rash areas were still getting exposed to the sun.

My allergist (not the physician assistant that I saw) called to check on me because she was reviewing charts. She was especially interested in my case because I was the patient she saw last year who had an extremely rare anaphylactic reaction to a medication that was not known to cause such reactions. I told her my theories about the birth control pills and she said anything was possible.

Sure enough the rash started to improve quickly a few days after stopping the pills.

It is entirely possible that the timing of the improvement after stopping the pill was a coincidence, but I'm pretty convinced it was a photoallergic reaction because of the strange pattern the rash took -- only appearing on the parts of me that received the most sun. I don't think the rash appeared on my face because I wore a hat and sunglasses every time I went outside in addition to wearing sunblock.

My allergist called to check on me again about a week after her last call, and I reported that the rash was significantly improving. She said that she learned a long time ago in her residency that anything is possible when it comes to side effects of medications. She has also learned with me that I seem to have a talent for developing unusual side effects.

What's interesting is that I am now back on my birth control pills with no problems, probably because I don't spend much time outside. The only sun I get is walking from my car to whatever building happens to be my destination. I don't foresee spending a week in the sun again for a long time, so I don't think I'll be having another reaction any time soon. Besides, I now know I should dress for winter the next time I go to a beach! :)

Update 10/10/2011: I thought I'd add a photo of the the rash. This is a picture of my arm. It's hard to see because the quality is not that great (I took the picture with my phone), but if you look closely you can see that the rash is much more prominent on my lower arm. The texture was similar to a really bumpy orange peel. The rash also pretty much disappears at the top of my arm and shoulder where my t-shirt sleeves covered the area.