Part III: Almost Normal

Hello folks!

I'm so sorry about my long absence.  This time I've been away because I've been feeling good and have been out and about almost like a normal person.  I suppose you can say I've been making up for lost time.

I'm actually recovering from a nasty throat infection right now, but I'm otherwise doing well.

The biggest improvement has been with my energy.  After taking high doses* of CoQ10 (prescribed by my neurologist after a test confirmed I had low levels of it) for over a year, I have more energy than I've had in my entire adult life.  I don't make this statement lightly, and I'm definitely not saying that CoQ10 has "cured" me.  What it has done, however, is help improve the way my muscles make and process energy.

The improved energy allowed me to start exercising over the summer (with permission and specific guidelines from my doctors), something that would have been impossible just two years ago.  Unless I'm feeling ill, I exercise once a week for about 25 minutes with a trainer.  That's really my only formal exercise in a given week, but it's still 100% more than I used to do!

Before I agreed to work with my trainer, I interviewed him and made sure he understood where I was coming from physically.  Even though I looked young and healthy on the outside, I had the muscle atrophy of a 70 year old.  I also explained the instructions from my doctors.  No free weights because they're tough on the joints.  Bands are ok.  No heavy aerobic exercise because they could damage my muscles.  Low impact is fine.  He understood and really got it.

Around the time I started exercising, I started taking generic Plaquenil.  This medication is often prescribed for autoimmune diseases such as lupus and rheumatoid arthritis.  Though I can't tell for certain, I think this medication is helping me as well.  The joint pain in my hands seems to have decreased.

Fast forward to today.  I saw my neurologist this afternoon, and she confirmed my strength has increased.  This is the second visit in a row that she said my strength has increased, so I'm thrilled to know I'm on the right track.

We both think my improvement may be due to a combination of factors: the CoQ10, Plaquenil, and the strength building exercises I do with my trainer.  We also agreed that today would be my last visit with her as my neurologist because what I have is not neurological.  I will be continuing my followup with my rheumatologist and primary care physician.

That's all I have for now.  I've got to go to bed!


* Note added November 2, 2013:  I take 400mg of CoQ10 two times per day (total 800mg/day). 

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!

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!

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. 

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. 

Misdiagnosis and Letter to Old Neurologist

A few people have asked me how I was even diagnosed with epilepsy to begin with. I am still trying to figure out the full answer to this question. However, I think the main reason is because the general neurologist that misdiagnosed me misread my (multiple) EEGs. He read my normal EEGs as having extensive seizure activity.

Why the confusion?

According to the epilepsy specialist I eventually saw, my EEG results showed that I was drowsy during the tests. People who are drowsy have different brain waves than people who are wide awake. If you've ever felt that your brain was asleep, it probably was! Unfortunately, the general neurologist who misdiagnosed me incorrectly interpreted the drowsy brain waves as seizure activity.

To be fair, the general neurologist did ask me about my medical history before officially (mis)diagnosing me with epilepsy. To be equally fair, I answered his questions as accurately as possible. I explained my entire medical history (asthma, allergies, eczema, bruxism, IBS, PCOS, sleep apnea, migraines, tinnitus, thalassemia minor, etc.). I also told him about my ME/CFS, including the neurological problems associated with it (brain fog, memory problems, attention problems, insomnia, etc.). I can only assume he believed my neurological symptoms to be from seizures. How wrong he was.

Following is an edited version of the letter I sent to the neurologist that misdiagnosed me with epilepsy. As I mentioned in my last post, I don't expect a response; however, I think the doctor needs to understand the danger of incorrectly diagnosing someone. 

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

Dear Dr. S,

As you have probably already learned, Dr. D, epileptologist at the C Epilepsy Center, has examined my case. After reviewing my medical history and EEG results (three from your office and one ordered by Dr. D), he has determined that I do not have epilepsy.

After living with the epilepsy diagnosis and having been on antiepileptic drugs for nearly a year (and suffering from side effects, including an anaphylactic reaction to Trileptal), this news came as quite a shock. While I am thrilled and relieved that I do not have epilepsy, I am trying to understand how I could have been so wrongly diagnosed. According to Dr. D, all of my EEG results appeared normal and my medical history did not indicate epilepsy. He asked me why an EEG was ordered in the first place.

I have since stopped taking Keppra and Topamax. Many of the symptoms I was complaining about -- extreme fatigue and weakness, difficulty going up stairs, twitching, difficulty thinking -- have improved dramatically. It appears that medication side-effects were the cause of many of my problems.

Because of the diagnosis, I was prescribed unwarranted medications, had unnecessary medical appointments and tests, experienced a life-threatening event resulting in hospitalization, and missed long periods of work. My husband also paid a price; he took off work on multiple occasions to drive me to medical appointments and had to undertake additional responsibilities at home because I was too exhausted to help. All of these events took a physical, mental, and financial toll.

I am writing because I want you to understand that this misdiagnosis greatly disrupted every aspect of my life for the past year. I shudder to think how much more suffering I would have undergone had I not referred myself to an epileptologist. I hope you will consider my case a learning experience, as I do not want others to endure what I have been through. Perhaps, taking additional classes on reading EEG results or referring possible epilepsy patients to a specialist for a second opinion would be a good idea. Familiarizing yourself with medication side effects might also be beneficial. Patients would respect you more for proactively looking out for their well-being.

I would be grateful for any response you might have regarding my misdiagnosis. I am trying to comprehend the last year.

I Don't Have Epilepsy

The title sums it up.

I apologize for the delay in my post. The past few weeks have been quite an emotional roller coaster, and the past year has been one of the most challenging of my life. Obviously, not having epilepsy is great news because it's one less thing for me to worry about, yet some of the happiness I should be feeling has been overshadowed by the anger and sadness I have surrounding the misdiagnosis. I do not understand how the neurologist that diagnosed me with epilepsy could have been so wrong. I only went to see him for migraines! Epilepsy wasn't even a consideration.

I am not exactly sure how to explain what's going on in my head, but I'll try.

I was diagnosed with epilepsy in December 2009 and was immediately put on horrible anticonvulsant medications that only someone who has taken them can understand. I suffered the consequences of the epilepsy diagnosis from December 2009 through November 2010, when it was finally determined that I do not  have epilepsy.

Medication side effects ranged from annoying and unpleasant to horrific and life-threatening. Some of the side effects were magnifications of symptoms I already experience from the ME/CFS, while others were new symptoms altogether. Medication side effects included extreme fatigue and weakness, difficulty going up stairs, twitching, trouble thinking and processing information, mood changes, hormone imbalances, mild rashes, swollen hands and feet, exacerbation of RLS, worsening insomnia, tremors, uncontrollable eye movements, nausea, headaches, dizziness, severe memory problems, hair loss, and anaphylaxis.

The last experience (anaphylaxis to Keppra) was the most traumatic. I was home alone when it happened and had to call 911 for myself. I still have flashbacks of the event when I see ambulances, hear sirens, or see the hospital I was taken to. I sometimes wonder what would have happened had I not called for help. Would I have suffered from more serious complications, or might I have died?

Even after I stopped the medication that caused the allergic reaction, my body stayed in a highly allergic state for weeks after the event. Additionally, I strongly reacted to the steroids I was put on – developing Cushing's Syndrome-like symptoms, including swelling of my face, fat pads on my shoulders and back, excess fat around my middle, weight gain, acne, and chronic yeast infections. Though I have not taken any steroids for several months, I still have some of these symptoms.

I went on Short Term Disability twice as a direct result of the epilepsy medications. The first time I took disability for epilepsy I was already on disability for another reason (poor reaction to a lumbar puncture), but the neurologist recommended that I extend it for about a month so that I could adjust to my new medications. The second time was because of my allergic/anaphylactic reaction to Trileptal.

Technically, I was not supposed to drive anymore because of the epilepsy diagnosis. Because I never lost consciousness, I made the decision to continue to drive myself to and from work (which is about 5 miles away). I stopped driving anywhere else, so my husband had to drive me to medical appointments and anywhere else I needed to go.

Towards the end of October, however, I made the decision to stop driving altogether. It was my understanding that I was still having seizures (according to my neurologist), even though I'd never once lost consciousness. I didn't like the idea of breaking the law (people with uncontrolled epilepsy are not supposed to drive in my state) or putting others at risk by driving with epilepsy. I started to ask around at work to find out if anyone lived close enough that they would be willing to drive me to and from work. One of my coworkers said that maybe we could organize some sort of carpool rotation where different people would drive me on different days of the week. If I had not seen the epilepsy specialist who determined that I do not have epilepsy, I would not be driving today.

Epilepsy is a life-long condition that affects every aspect of one's life. The neurologist that diagnosed me told me that I would be on medications for the rest of my life. He said that if I hadn't started medications, my seizures would likely progress to tonic clonic seizures (aka grand mal) and possibly permanent memory loss. I was scared about getting pregnant while taking epilepsy medications because of the terrible effects most of the medications can have on a fetus. I had a medical ID bracelet that would inform emergency medical personnel of my epilepsy diagnosis and allergy to Trileptal. I was terrified that the next pill I took would put me in the hospital again or kill me.

It's been said that if you really want to understand someone, you should walk a mile in their shoes. Well, I've walked about 10,000 miles, and I can tell you that epilepsy is not something to be taken lightly. I wrote a letter to the neurologist that misdiagnosed me to ask him how he could have misdiagnosed me. I am not expecting a response, but I think it is good for him to understand the consequences of diagnosing (or misdiagnosing) someone with epilepsy. (I will post a copy of the letter later. I first have to edit it for privacy reasons.)

This whole experience has made me a stronger advocate for my own health needs. I had doubts about the diagnosis to begin with, but it took a life-threatening emergency and nearly a year's worth of suffering for me to seek a second opinion from a specialist. From now on, if anyone decides to diagnose me with something serious, I will be seeking a second opinion from a specialist -- no matter how obvious the diagnosis seems or how expensive a second opinion ends up being (because it might be less expensive in the long run).

I now feel the need to do some research on the misdiagnosis of epilepsy. I want to know how common misdiagnosis is because I am concerned that my old neurologist might be doing this with other patients. If he read my normal EEG's as being completely abnormal with lots of seizure activity, how can anyone trust him to be reading other patients' EEG's correctly?

Sorry about the long post, but I've had a lot on my mind. Writing about it is cathartic.

It Might Not Be Epilepsy?!

I might not have epilepsy.

Everything has happened so fast that I'm still processing the recent events.

I saw the epilepsy specialist on Monday. My mom came into town to accompany me since my husband was unavailable that day. After reviewing all the medical records I had sent over to the epilepsy center (including previous EEG's), interviewing me, and giving me a neurological exam, the doctor said that he did not think I had epilepsy.

What?! I looked at the neurologist in shock.

He said, "This is good news! You don't want to have epilepsy." I suppose he was expecting me to cheer or at least smile.

I couldn't smile. All I could think about was how the past year of my life was one of the worst of my life. Ever since starting epilepsy medications, I have felt sicker than ever. I nearly died in May from one of the medications. I'm losing my hair, my entire body is weaker than ever, my memory is worse than ever, and I have all sorts of problems I never had before.

All of the suffering and all of the pain over the last eleven months have been for nothing. I suffered through horrific side effects and put my body through tremendous stress for nothing. I almost died for nothing.

I wanted to cry.

I was suddenly angry at my previous neurologist. I asked the epilepsy specialist how I could have been so wrongly misdiagnosed. How could this have happened? How could my previous neurologist have been so wrong? Of course, the epilepsy specialist couldn't really give me an answer. I said that my old neurologist needed to know that he was wrong and asked if the specialist could send over a copy of his findings.

I am still going to have another EEG that the epilepsy specialist is going to review just to be sure. The EEG results that were sent over by my previous neurologist's office were a bit difficult to read because they were printed out on paper and condensed, rather than sent on a CD or DVD which would have made the spikes and waves easier to interpret.

At this point, I'm not sure what to think or how to feel. I think I am mostly in shock. I don't really feel anything.

I'm not going to get my hopes up just yet. I'm too afraid to believe that I don't have epilepsy just in case I actually do. At the same time, if I don't have epilepsy, I'm back at square one -- trying to figure out what to do to feel healthy. For a while, I had hoped that the epilepsy medications would "fix" everything that was wrong with me. Unfortunately, the medications seem to have done the very opposite and hurt me instead.

On the upside, I am now tapering off one of my epilepsy medications, Keppra. The epilepsy specialist believes that it is the source of many of my recent problems. I am hoping that the hair loss, extreme weakness, high cortisol levels, high triglycerides, and even some of my neurological issues will improve with time.

There is so much more the epilepsy specialist said, but I am too tired and overwhelmed to write about it.

Getting Better is Exhausting

Ugh. Sorry about the long silence. I've had all sorts of problems with new medications combined with horrible insomnia, so I have not felt up to writing. This post will be written in spurts, so there might be some repetition or jumping around of ideas.

My progress is so slow that on a day-to-day basis I feel like I'm not making any progress. When I compare myself now to how I was before the lumbar puncture and blood patch (when I was working full time), I'm still in pretty bad shape.

However, when I compare myself now to how I was immediately after the research study (when I was REALLY bad off), I can tell I have made some improvements. Here are some improvements:

• I am able to shower more often. When I first got back, I was so sick and weak that it would take every ounce of energy to shower that I only did it twice a week at the most (sorry if that's too much info).
• I can get in and out of bed without help, and I no longer spend all day in bed. Initially, there were times that I needed my husband to help me sit up in bed so that I could eat a meal or take pills. I now have more variety and spice in my life and spend time sitting or lying on the couch instead of lying in the bed!
• I can drive myself to all my medical appointments. Driving is still a physical challenge. On days I have an appointment, I rest as much as possible before the appointment and usually end up taking a nap after.
• This week I started doing some light chores like putting dirty dishes in the dishwasher and twice getting the mail (we live in an apartment complex, so our mailbox is a short walk from our place). These are big accomplishments!
• My headaches have decreased, probably as a result of some of the medications, which unfortunately I have now stopped due to side effects (see below).

Unfortunately, I still have a way to go. I'm still running low grade fevers. There have been a couple of occasions that my temperature was a normal 98.6 or a close 98.8 (and of course I would get excited), but then by the next day it would be up again.

I'm still exhausted and not sleeping well, and I'm sleeping a lot. I'm still having trouble breathing. My throat hurts on and off, and I've got a blister on what remains of my left tonsil. My lymph nodes still hurt, and my memory is a mess. I feel like the forgetful fish Dory in the movie Finding Nemo. It's funny, but not.

So much has happened since my last post that this post would become a book if I tried to explain everything, so I'll just try to cover the main points (not necessarily in chronological order):

• I was having difficulty breathing (see symptoms from last post) and thought it was from my asthma, so I went to my asthma specialist to get checked out. My lungs are completely clear. My breathing symptoms are not from asthma. I was given a name for my symptom: "air hunger."
• Because of worsening insomnia combined with the sense of air hunger that started around the time I started my new medications, the neurologist instructed me to stop the zonisamide (see last post) and diazepam (a.k.a. Valium) which was prescribed in place of the Soma (muscle relaxant) which was supposed to help my tension headaches. I am no longer on any medications for my tension headaches or migraines.
• It is interesting that both the Soma and Valium increased my insomnia symptoms to an extreme degree. Both medications usually cause drowsiness. The Soma kept me up 36 hours (see previous post). The Valium did not make me sleepy, and it kept me in a very light sleep when I did fall asleep. I would wake up ever couple of hours. I still say I'm the queen of less-common side effects.
• The neurologist has temporarily given up trying to treat my headaches, saying that we need to first address my insomnia. Good call. I'm exhausted. He has prescribed Lunesta for sleep, which is supposed to help people fall asleep and stay asleep. I've taken it two nights, and it does seem to help me fall asleep (though I have discovered that it takes nearly two hours before it starts to work); however, I still find myself waking up during the night.
• In the past, I've used melatonin, valerian, and/or benedryl to help with sleep; however, my sleep problems have gotten out of control since the lumbar puncture. I'm willing to try pretty much anything. It's funny the Soma and Valium, while not specifically prescribed for my insomnia, were so unhelpful.
• I have started going to physical therapy for my upper back and neck with the hope that it might help with my headaches. I've had one treatment, so I don't feel any difference yet...but I'm hopeful.
• I have started seeing a Cognitive Behavioral Therapist to see if she could give me any useful techniques for dealing with my newly worsened level of CFS. I've only been to her once, and I like her so far. She knows I'm not depressed and that the CFS is not a psychological disorder. I feel it significant to point out that she herself has Fibromyalgia.
• I have started light therapy. I bought a travel-sized light therapy light from Amazon and am using it for 30 to 60 minutes each day when I get up. I'm hoping it will help "reset" my internal clock which is obviously not functioning properly.
• I purchased a cheap eye mask to help block out all light when I go to bed, and I got a "sleep machine" that creates white noise to help mask external sounds that can be disruptive to sleep.
• In addition to the light therapy, eye mask, and sleep machine, I try to practice good sleep hygiene by going to bed and waking up at the same time every day (I set my alarm clock), but doing so has been a fruitless exercise thus far. I'm hoping if I keep doing what I'm doing along with trying to find a sleep medication that actually works, things will improve in time.
• I am trying to start the "olympic exercise regime" that the Georgetown doc recommended to me. He suggested going for short walks. In the first week, I would go for a one minute walk every day. In the second week, I would go for a two minute walk every day. In the third week, a three minute walk every day, and so on. Up to thirty minutes. If I have trouble, I could repeat a week. That is, if I'm ok with three minutes but not four, then I would stick with three minute walks for another week.

When the Georgetown doctor told me to stay out of work until January and my regular doctor agreed, I decided I would do everything my doctors suggested...even if I was skeptical...because I really want to get healthy. I also started doing my own research. The sleep machine, eye mask, and light therapy were my own ideas, but pretty much everything else has been suggested by them.

I am not a big fan of prescription medications because I've been on so many over my lifetime. I rather prefer natural remedies; however, all the supplements I'm on are obviously not enough at this point. I have an appointment with my regular doctor on Monday, and I want to talk to her about possibly taking antiviral medication.

I've read that some CFS patients have had some success with long-term antiviral medications. Multiple blood tests have shown elevated levels of EBV in my system (and occasionally elevated HHV6). Most of my symptoms are very viral-like, as well, so I'm hoping she'll consider a prescription. If not, I'll keep plugging away. There are also a few more supplements I want to ask her about.

Oh, and my Short Term Disability has still NOT been approved. It's still pending, so that's better than being denied. I started the process on November 20. I'll post an update if/when anything happens.

I'm too tired to write any more, so this will have to do.

Today's Activities: home. Today's Most Annoying Symptoms: exhaustion, insomnia, mild headache, low grade fever 99.3 (99.7 yesterday), blister in throat, sore lymph nodes under arms and in neck, tired muscles, poor memory and thinking problems, air hunger, area of blood patch has still not healed and is itchy.

Mood (10 is best): 6
Energy (10 is best): 1
Physical Discomfort (10 is worst): 5

P.S. Happy Hanukkah to those that celebrate!

Neurologist Trip and Medication Side Effects

My cognitive and motor (i.e., typing) functioning is poor at the moment because I have been awake since yesterday morning at 10am - with the exception of a 3 hour nap I managed to get this morning.

This post will be primarily comprised of (edited) emails I have written to people explaining the recent events.

First, an email about my trip to the neurologist (this is an email I sent yesterday to the Georgetown researchers who are very interested in my case):

As requested, I am emailing you a list of the meds the neurologist prescribed.

Also, am no longer taking trazodone for sleep because I had an odd reaction to it. About 60 to 90 minutes after taking it, I would experience a feeling that my nasal passages were closing. If I tried to breathe through my nose, I had the feeling that I was suffocating.

I am still suffering from insomnia. I have also been running constant low grade fevers since I left Washington, DC. Today it reached 100.1, the highest it's been since this all started. My whole body feels very weak, and the lymph nodes in my neck and armpits take turns hurting. My short term memory has also been terrible (in a somewhat alarming way).

On the bright side, the neurologist said that being in a constant migrainous state combined with a lack of quality sleep can cause memory problems.

I saw my regular doctor last Wednesday before Thanksgiving, and she agreed with everything you suggested. She also thinks I need to be out of work until at least January.

I saw the neurologist yesterday. The doctor diagnosed me with chronic daily tension headaches that have resulted in a chronic migrainous state. He has ordered an EEG, MRI, and MRA which I will have at the end of this week. I also had blood drawn to check for muscle disease.

Here are the medications:

~ Soma/carisoprodol 350 mg tablet (muscle relaxant for tension headaches). Last night was first dose. Per instructions, I am taking half a tablet every night this week and will increase to a full tablet if I do not notice a difference with the half tablet.

~ zonisamide 25 mg capsule (anti-convulsant also used for chronic migraines). Tonight was first dose. Per instructions, I will take 1 pill every night in the first week and will increase to 2 pills every night in the second week, 3 pills every night in the third week, and 4 pills every night in the fourth week. Four pills per night is the maintenance dose he wants me on.

~ Migranal 4.0mg/ml nasal spray (for migraines). Tonight was first dose. Per instructions, I will use it every 12 hours for six doses. After that, I will use it as needed.

~ Fioricet. Per instructions, I will only use this medication if I have a really horrific migraine.

I think that's all. Please let me know if you have any questions.

Kind regards,

Alyson

Next, an excerpt from an email to a friend I sent this evening about the recent happenings (this wonderful person will be bringing dinner to Kenny and me this week):

Just as a heads up, I'll probably be extraordinarily exhausted when you see me. I took some new medication last night that has resulted in me being awake for nearly 35 hours with only a 3 hour nap during that period. I will be taking sleeping medication tonight that my doc prescribed, but I have no idea how I will feel tomorrow after having been awake for so long. My cognitive and motor functioning has been declining as well; however, I hope they will be improved tomorrow.

The neurologist instructed me to stop the Soma (muscle relaxant), thinking that's possibly what kept me up. Usually it makes people drowsy, but apparently some people (i.e., me) experience insomnia. I'm also going to take yet another new medication the neurologist prescribed today to try to help me sleep tonight.

I seem to be the queen of less common side-effects.

I'll write more when I'm up to it, but I thought it important for me to document this experience.

Today's Activities: home. Today's Most Annoying Symptoms: INSOMNIA! nausea, sore throat, sore lymph nodes under arms, sore muscles all over body, unusual muscle weakness in the legs, the feeling of being over medicated, horrible memory and thinking problems, occasional sensation of not being able to get enough air (asthma).

Mood (10 is best): 6
Energy (10 is best): 1
Physical Discomfort (10 is worst): 6