Three Things I'm Thankful For

Image from http://savingmorethanme.com/2013/10/vintage-thanksgiving/

I'm Thankful for...

1. Improved health (and doctors who listen).  I missed out on a lot of things in my twenties and early thirties, so my improved health is letting me make up for lost time.  I've been out and about more in the last year than I had been in the last ten years.  I've had the best health of my life this year (thanks to a few awesome doctors who took me seriously), and I don't ever want to take it for granted. 
2. Resilient spirit. Last year was a tough one when my marriage came to an end.  I am so grateful that my spirit was much more resilient than I gave it credit for.  With the help of a good counselor and the support of family and friends, I was able to bounce back in positive, healthy way. I'm now enjoying this new chapter of my life. 
3. Family and friends.  Speaking of family and friends, I am thankful to have them!  Simply put, they just make life better. 

There's plenty more that I'm thankful for, but I wanted to highlight my top three for 2013.  Happy Thanksgiving to all who celebrate!

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!

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...

ME/CFS Awareness

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

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

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

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

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

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

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

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

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

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

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

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

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

Anyway, that's the update.  Good night! 

Angry and Frustrated

If you're a regular reader, you'll know that I'm a generally positive, happy person. I know this might come as a shock to some, but I'm still human! I have my share of pity party days and days when I'm angry or frustrated. Well, today is one of those days.

I've been dealing with chronic illness for my entire adult life, and I'm frustrated that so many in the medical community (and definitely the general public) are ignorant when it comes to dealing with "invisible" illnesses. Ask random people on the street what they know about ME/CFS, and you'll probably get blank looks or misinformed answers. I get even more frustrated when I hear from fellow patients whose stories of dismissive doctors echo my own.

I'm angry that I don't know what it's like to be a normal, healthy adult. I'm upset that I've spent over a dozen years and thousands of dollars searching for answers and relief only to be left with little to no relief, a lot less money, and even more questions.

I know I'm lucky that I've found a few awesome doctors who have become allies in my search for answers, but I've also had so many awful experiences with idiot doctors and nurses who think they know everything when in actuality they know very little. (One idiot doctor in particular almost cost me my life due to a misdiagnosis and ignorance of a particular medication's possible side effects.) I'm even annoyed that I feel "lucky" to have found good doctors. Shouldn't all doctors that we go to be good ones?

I feel hurt and frustrated when well-meaning friends and family tell me that, well, at least what I have isn't "more serious"/"fatal"/[insert something dismissive here]. "At least it's not [insert a more well-known illness here]" is equally dismissive and ignorant. What they're really doing is minimizing the impact my health has had on every single day of my entire adult life.

I'm also angry that very little progress has been made in terms of what we know about ME/CFS and other less common chronic illnesses. I started blogging in 2009 and had great hope that things would change for the better. Now it's 2013, and I have seen very little change.

When I started blogging, the iPad had not yet been released and people were still really excited about the iPhone 3G. Since then, the 2nd, 3rd, and 4th generation iPad models and iPhone 3GS, 4, 4S, and 5 have all been released and are old news. If we have phones that understand us when we speak and can act as personal assistants and speak back to us, why have we not made any real progress when it comes to ME/CFS and other chronic illness?

I still have hope that I will find answers to whatever is wrong with me. I'm not going to stop until I do.

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...

Boston, MA

Giant Potholes in the Road of Life

There is a road not far from my house that has the worst potholes in the world. I'm talking about jaw-breaking, brain-rattling caverns that shock me every time I drive over them. Even though I try to avoid them, they are impossible to miss. The funny thing is that the road is in a really nice area with beautiful trees and charming homes.

Okay, maybe I'm overstating the size of the potholes...a little.

To outsiders my life appears perfectly lovely. I have a supportive family, a great job, a cute cat, a home, and look healthy on the outside. The reality is that I've hit a giant pothole in my personal life, which has shaken me to the core.

My husband and I recently divorced.

We separated a few months ago, and the divorce was finalized last month. When I got married in 2005, the D-word was never an option for me. I believed I would spend the rest of my life with this man. I would get healthy, and then we would have children and grow old together.

We were supposed to grow old together.

Unfortunately, the odds were against us. From what I've read, the divorce rate for people with chronic illness is higher than that of healthy people. My husband also brought his own mental and physical issues to the marriage, which compounded our challenges.

Suffice it to say our marriage is over.

What makes the timing of the demise of our marriage so much more painful is that I'm the healthiest I've been in a very long time (I'll write about it in a future post), our careers were going well, and we were finally reaching a point where we didn't have to worry as much about our finances. The future was looking bright.

Unfortunately, the future I envisioned for myself is gone.

I'm now in the process of regrouping and dealing with my grief. I'm seeing a psychologist to sort through everything, my family has been amazingly supportive, and I'm taking care of myself. I think I've been doing quite well under the circumstances, though I'm not entirely sure how much is denial and how much is me actually handling things.

Only time will tell, I suppose.

My mom bought me a magnet that I keep prominently featured on my refrigerator so that I see it every day. It says:

Everything will be okay in the end. If it's not okay, it's not the end. ~Anonymous

What's great about the road with the terrible potholes is that once I get through the really rough patch, there is a stretch of freshly repaired road. There are no potholes in that area, and it's a smooth drive for a while.

I'm looking forward to the next smooth part of my Road of Life. For now, however, I'm working on getting past this darn pothole.

Trips to Immunologist and Hematologist

In case you're not a regular reader or it's just been too long since I've talked about it, I have been on a mission in recent years to get answers.  I've gone from specialist to specialist for three main reasons:

1. to seek relief from something chronic (e.g., asthma, allergies, IBS, PCOS, etc.),
2. because a doctor/specialist referred me, and/or
3. to rule out conditions or find out if there is something wrong with me that can be treated...just in case I don't really have CFS/ME.

A lot has happened since my last real post. I've seen an immunologist and a hematologist in recent months, though not much came of the visits.  Well, that's not entirely true.  Something did come of the hematologist visit, but you'll have to read the rest of the post to find out (or you can just skip to the end). 

First, the immunologist.  I decided to see an immunologist to rule out major immune system problems because I've had problems in the past with healing (e.g., complicated tonsillectomy, complicated UTI), as well as unusual reactions to different things (e.g., drug allergies). 

I didn't realize how hard it would be to find an immunologist who saw adults.  Typically, doctors in the US who are allergists are also trained in immunology, but I wanted someone who focused on immunology first and allergies second.  I was hoping the doctor would have enough experience that he or she could spot unusual or less common conditions in adults.  Most of the doctors in my area who called themselves immunologists worked in pediatric departments of hospitals and only saw children. 

After searching high and low, I finally found a doctor who used to be a pediatric immunologist at a hospital before starting his own medical practice.  He now sees children and adults.  His office is about an hour away from my house, but I felt the visit would be worth it.  When I went to see the doctor, he took a thorough medical history and listened carefully to everything I had to say.  He took his time with me.  I think the appointment lasted well over an hour! 

The doctor explained that from my medical history and the way I described my problems, he did not think I had a significant immune system problem; however, he said something mild could be possible.  The doctor ordered a battery of tests, from the usual CBC to more specialized tests on my immune system that I'd never had done before. 

I won't keep you in suspense.  My immune system appears to be normal.  All the tests came back within normal parameters -- except for my red blood cells.  The abnormal results were expected because I have thalassemia minor; I am a genetic carrier for the thalassemia trait, which is a type of anemia.

Though I had told the immunologist that I have thalassemia minor, he was concerned about my blood test results and strongly urged me to see a hematologist for a deeper look at the way thalassemia minor might affect me.  The immunologist believed the thalassemia minor could be the cause of my fatigue. 

I was shocked because I'd always been told that thalassemia minor was symptomless. 

I made an appointment with a hematologist as soon as I could.  This doctor took a thorough medical history and ordered a bunch of tests to check out my blood and to determine what type of thalassemia minor I have.  I found it interesting that the doctor himself actually went to look a look at my blood cells with a microscope while I waited in the exam room. 

I'll spare you the suspense again.  Based on the blood test results, the hematologist said that he did not believe the thalassemia minor was causing my fatigue or other symptoms.  He said my blood cells looked good for someone with the thalassemia trait and that I was not particularly anemic. 

I was actually disappointed because I thought I was about to get answers as to why I've physically struggled for so long. 

One really good thing came from the visit to the hematologist, however.  He was fascinated by my health history and really seemed to empathize with me.  He revealed to me that during his medical training, he had once worked at the National Institute of Health in their rare diseases department. 

He said that the NIH has a program that brings in patients who have not gotten a diagnosis that adequately explains their constellation of symptoms.  The NIH runs about a gazillion tests on the patient and tries to come up with a proper diagnosis. 

The hematologist said that once I receive my nuclear DNA test results from the mitochondrial disease specialist, he would be willing to recommend me for the NIH rare diseases program if the results come up inconclusive. 

Wow!

I won't be getting my nDNA test results back for at least another couple of months, but this doctor gave me a little glimmer of hope that I might finally understand my uncooperative body.  It's important to note that there is no guarantee that I would be accepted into the program even if recommended by this doctor, but I was touched that the hematologist took me so seriously and understood my need for answers.