Possible Cause

This illustrates both my level of exhaustion and my obsession with pugs.

While “probably cause” had a better ring to it for the title of this post, I’m afraid that would be premature at best, but I’ll gladly take a new potential cause for my debilitating fatigue any day.

After being diagnosed with hypersomnia a few months ago, I had a lumbar puncture (spinal tap) to determine whether or not my spinal fluid contains an elevated level of a substance that acts like a sedative. In patients with elevated levels, my doctor is experimenting with using a drug called flumazenil to counteract its effect. He has seen some significant success among his patients. Having prescribed flumazenil for about 100 patients with elevated levels of the substance, he reports a 50% drug refill rate. This stuff is expensive and not covered by insurance, so people aren’t refilling it unless it works.

I learned on Wednesday that I do indeed have an elevated level of this “sleepy juice” and could not have been happier. Each new finding, each possible treatment offers a glimmer of hope that I can feel better.

Flumazenil is labeled for use as an injection to bring people out of sedation and treat overdoses of drugs like Valium. Though long-term efficacy and safety of treating hypersomnia has not been evaluated, the doctors at the Emory Sleep Center completed a small clinical trial in 2012. Below is an informative excerpt from the abstract.


The term 'hypersomnia' describes a group of symptoms that includes severe daytime sleepiness and sleeping long periods of time (more than 10 hours per night). Sometimes, hypersomnia is caused by a problem with the quality of sleep occurring at night, for instance when nighttime sleep is disrupted by frequent breathing pauses. In other cases, however, hypersomnia occurs even when nighttime sleep is of good quality. These cases of hypersomnia are presumed to be a symptom of brain dysfunction, and so are referred to as hypersomnias of central (i.e., brain) origin, or primary hypersomnias.

The causes of most of these primary hypersomnias are not known. However, our group has recently identified a problem with the major brain chemical responsible for sedation, known as GABA. In a subset of our hypersomnia patients, there is a naturally-occurring substance that causes the GABA receptor to be hyperactive. In essence, it is as though these patients are chronically medicated with Valium (or Xanax or alcohol, all substances that act through the GABA system), even though they do not take these medications.


I’ve been using Adderall to help me wake up in the mornings, which has definitely helped reduce the extent of my oversleeping and evening ritual of dreading yet another miserably exhausting day ahead. However, Adderall is a stimulant and takes time to start working. I wake up to take the pills at 5am, then go back to sleep and wake again with my alarm at 6:30 or 7. It also makes me feel jittery in the mornings and can’t be taken again later in the day without keeping me up at night. While it has been cause for great celebration and hope, it is not a perfect solution.

Flumazenil is not a stimulant. My doctor has described the difference with this analogy. If a car is driving too slowly, it may be sped up by applying the gas pedal, which is how a stimulant works. On the other hand, if the car’s parking brake is engaged, the gas pedal is not going to provide much help. Flumazenil removes the brakes, speeding the car up by the absence of something de-energizing instead of the addition of something energizing.

Flumazenil is now available in a small lozenge that dissolves under the tongue and a topical cream applied to the skin. I just took my first lozenge an hour ago. I think it will take time to evaluate the results, but I am encouraged to have been able to sit and write this post without falling asleep or dismissing the effort as overwhelmingly cumbersome. As you may have noticed from my increasingly infrequent posting, this is not something to take for granted.

This is my amazing sleep doctor / neurologist Dr. Rye. He is nearly as committed to solving my mystery fatigue as I am. He also puts up with my sarcasm, though he is not nearly as cute as the sleepy pug.

A Fond Farewell to 2013

As far as I know, the only time I was hospitalized in the first 28 years of my life was when I was born - not a bad ratio of years lived to hospitalizations. Of course we know that ratio began declining abruptly when I became sick in October of 2009. In those last three months of the year, I was hospitalized two or three times. I think I logged five hospital stays in 2010. If only airline miles could be applied to hospital bills...

I found myself in the hospital about every six months in 2011 and 2012, a strangely regular rhythm caused by unrelated events - I think two instances were for flu or flu-like symptoms, one was for rejection treatment and the most recent episode was the disaster of trying to switch from one immunosuppression medication to another. This last stay lasted a solid week; I went home on December 26, 2012.

When this past May and June rolled around, I started getting nervous. I didn't wonder when the next episode would strike, but what it would be. I think I remember having some symptoms of rejection around this time. Whenever that was, I was sure I was in rejection and would need to report to the ER to "check in" for treatment. I was astonished when my transplant team reported news of a normal echocardiogram and a negative heart biopsy. I kept nervous watch for symptoms of the flu or other abnormalities for the next several months, but none came.

I started counting the days in December, wondering with increasing anticipation if I could actually make it a full year without a hospital stay. I was so relieved when December 26 came and passed, with only a lingering head cold to show for it. And now, on the eve of the new year, I realize I went the entire calendar year of 2013 without spending a single anxiety-ridden night in the hospital.

I'd say that calls for a toast. Farewell, 2013. Wishing all of you a healthy and happy 2014!

　
On another note, please keep Ally "the Bionic Bride" in your thoughts. Her story began much the way mine did, only she was an 18-year-old freshman in college. She was healthy and active until a virus attacked her heart. She first had an LVAD (heart assist device) implanted, and she got a new heart very near the time of my transplant in 2010. She has just learned that she has severe cardiac allograft vasculopathy and needs to go back on the transplant list. This type of coronary artery disease is not terribly uncommon among heart transplant recipients, but I didn't realize it could strike as early as three years post-transplant. If you want to check out her story and/or send positive thoughts her way, her public Facebook page is https://www.facebook.com/pages/The-Bionic-Bride/119390961436414.

This is the People Magazine spread you may have seen.

 

An Early Christmas Present

 

I was miserable on Monday, Tuesday and Wednesday last week. I felt like my body weight had doubled by the time I finished my first cup of coffee. I closed my eyes and rested my head in my hands when I went to the bathroom. I felt emotionally overwhelmed by the idea of carrying on this way for the rest of my life. I could barely keep my body upright during meetings and didn't even try at my desk. I avoided unnecessary conversations with coworkers. I can't quite articulate how weak and fragile my body felt by the time I arrived home each evening. I felt like I was dying.

In the preceding week or two, when I was trying a new medicine called Nuvigil, I had somehow managed to forget how miserable I had been every single day for nearly three years.

My new and beloved sleep doctor prescribed Nuvigil a few weeks ago as the first of several ideas he had proposed. I tried taking it at different times of the day as advised and didn't notice any improvements, but I did start feeling more heart palpitations than usual. With no noticeable change except the psychological discomfort that comes with frequent palpitations, I decided to stop taking the medication at the end of last week. It was only when I reverted to my previous level of agonizing fatigue that I understood the difference that Nuvigil was making. I decided I would start taking it again on Thursday morning and closely monitor how I felt.

I was near tears by the time of my Thursday evening commute, as I finally allowed myself to accept and celebrate the impact of this new medication. Finally, after being truly miserable and near despair for years, FINALLY, something was helping. After being told time and time again that I might not ever improve, I have seen evidence of tangible improvement. I am elated and encouraged and triumphant.

I still ran out of gas at the end of each day on Thursday and Friday. I still avoided people. I still rested my head in my hands whenever possible. I still crawled into bed exhausted at 9 o'clock each night. I still rested most of the weekend. I am not well, to be sure. And I am far from cured. But words cannot describe the gratitude and relief I feel for this measurable improvement. I'm certain I will forget about this win soon, when I become accustomed to and frustrated by my new normal, but I write this as my reminder. There is now not only hope, but reason to hope.

My dear friends Marguerite and Chris gave me a plaque not long after my transplant that read "fluctuat nec mergitur". Not only is it the motto of Paris (this francophile's favorite place on earth!) but its meaning couldn't be more appropriate for my situation: she is tossed by the waves but does not sink.

Idiopathic Hypersomnia and a Sliver of Hope

I first became sick four years and one week ago and have since received countless diagnoses.

Cardiogenic shock. Translation – total system failure (or, as I like to call it, temporary death) caused by heart failure. Dilated cardiomyopathy. Translation – my heart was too large and too weak. Pleural effusion – fluid in my chest cavity. Renal insufficiency – kidney failure. Chronic kidney disease – after my kidneys started working again they became permanently diseased courtesy of a necessary medication. Diabetes – elevated blood sugar levels that cause your every thought about food to be considered through a new lens as irritating as a gnat that you can’t smack. Edema – swelling due to fluid build-up. Anemia – reduced red blood cell function. Hypothyroidism – reduced thyroid function. The list goes on.

One might think I would hope to end the slew of diagnoses, but not when another condition has gone unexplained for years. I have struggled with debilitating chronic fatigue for nearly three years now – THREE YEARS. I’ve dreamed of pinpointing its cause and have gone to great lengths in pursuit of a diagnosis. In my desperate attempt at solving this mystery, I admit I have hoped for positive HIV test results, hepatitis, multiple sclerosis and other diseases and conditions that make most people shudder.

A cure would be nirvana, but I would settle for a concrete cause – a diagnosis that ascribes science and legitimacy to the way I have felt all of this time. An undiagnosed debilitating condition is treated as frivolous by many and is absolute torture for the person affected.

My latest answer-seeking endeavor has been with the Emory Sleep Center here in Atlanta to follow up on an abnormal sleep study I had a couple of years ago. My new doctor is an expert in the field of sleep medicine and seems highly sympathetic to my situation. I participated in a second sleep study a couple of weeks ago, which was followed by a full day of sleep testing that was as close as I have gotten to Chinese water torture – more on that another time.

I haven’t seen my doctor for follow-up yet, but I did get my hands on the report. And halleluiah, there was indeed a diagnosis right there at the top: Idiopathic Hypersomnia. The earth-shattering translation goes something like this: “We have found that you are abnormally tired all of the time and require an extremely excessive amount of sleep, but we have no idea why.” Reading that felt like I had finally found the location of the elusive holy grail, but someone had replaced it with an empty red solo cup.

However, to put my cynicism aside for one moment [wait for it], I do maintain hope that my doctor will have some suggestions when I see him in person soon. I don’t really have another choice but to hope, do I? The good news is that with a diagnosis – no matter how vague – comes the possibility of treatment. Without that tidy diagnosis code that someone at my insurance company can type into a little box, all progress ceases and I look for the next specialist. So with my diagnosis code in-hand and an appointment coming up soon, I choose to be hopeful in spite of the bitter disappointment that has defined my last thirty-four months.

And....Action

At long last: the rest of the story.

Around the time I wrote that last post I began feeling some side effects of the sirolimus. I became generally queasy, had a constant headache and developed some unusually painful sores on my bottom lip. My new Mayo nurse indicated that these side effects were not unusual and should improve over time. Stick with the plan.

In the next 48 hours I started feeling much worse and eventually developed the first fever I’d had since my July 2010 transplant. Fever is not taken lightly in the transplant community because it can be a sign of rejection or infection. I reached the on-call nurse at Mayo after a full day in bed, but she was non-plussed and suggested I had a stomach virus. That’s really all she could do from across the country – besides telling me to STOP taking the drug or suggesting I head to the nearest hospital.

The general cramping and discomfort in my belly turned into very specific pain. I tried to calm my nerves and get some sleep, but I ended up with continual diarrhea and vomiting for the next six hours, into the wee hours of that Thursday morning. My parents had gone to bed with their cell phones at the ready, and I finally called upstairs around 5am to say I wanted to go to the hospital. I had not experienced this type of belly pain before and recalled that the last time I’d had a symptom I didn’t recognize, I had in fact been dying from heart failure. That’s a lesson you don’t easily forget! My gut said I should go to the hospital.

After a long and agonizing wait, I finally got some fluids going and was given morphine – my best friend that morning (besides the toilet haphazardly installed in a corner of the small ER exam room). I hoped to be treated for the pain, get hydrated and stop vomiting so I could take my medication, then I figured I’d go back home to finish getting better. That all happened, but I didn’t end up going home until a week later, the day after Christmas.

I was once again a mystery to the medical community. After a slew of swabs, specimens, punctures and seemingly gallons of blood, it turns out the sirolimus had made me very sick. It had taken such a bite out of my immune system that I barely had any infection-fighting cells left, which left my body feeling horrible and unable to defend itself. I felt like my bones were slowly shattering inside of me.

It took a few days for the sirolimus to fully clear out and another few to recover enough to eat. I finally ate enough on Christmas day that I was released 24 hours later.

The good news is the sirolimus was responsible for that entire episode so there was nothing permanently wrong, though things could have gotten ugly if I’d stayed home and picked up an infection while my immune system was so compromised. Also my family is wonderful and delayed our Christmas celebration by a week, so I didn’t miss a thing.

The bad news, of course, is that our latest idea for attacking my fatigue became impossible. We weren’t able to test the hypothesis because I was never able to lower my tacrolimus level. There is not another fully tested immune suppression therapy for heart transplant patients – it’s sort of either tacrolimus + cellcept or sirolimus + cellcept – and I assure you I will never even touch a sirolimus pill again. If the tacrolimus is making me sick, the very unfortunate reality is that I will probably always feel sick. There are some other mixtures of drugs that we could try, and I hope to sometime soon, but we didn’t want to mess with anything for a while after that Christmastime excitement.

So that’s the latest in my medical adventures. As for the rest of my life, I’ve been gainfully employed again since the beginning of February and recently bought my own home! I’m trying to at least pretend to be a normal person in hopes that one day reality will follow suit. So far: no dice. But a girl can dream.

Triumphantly displaying the stick from the popsicle I ate - it was the first thing in a few days.

 

Minnesooooota

 

Since writing this post on December 15, a lot has changed. I figured I'd go ahead and post this one and fill in the rest later...

Oh, hey there.

You know when you haven’t talked to someone in a while and you want to call, but the notion of catching each other up on every detail that has taken place since your last conversation is overwhelming, so in the end you simply don’t call? That’s been the nature of my relationship with this blog for a number of months now. I have wanted to write – and have started several posts – but never really knew where to begin or how to catch up. Instead of deliberating any longer, I’ll just share some recent news and fill in the biggest gaps.

Almost everything has changed. I left my job (in a “congratulations on your lay-off” kind of way) and am enjoying some much-needed time off with the security of ongoing health insurance. I left New Jersey and am now living in my parents’ basement – it’s a lot better than it sounds, but it’s still my parents’ basement. I finally went to the Mayo Clinic in Rochester, MN and am currently under the care of their transplant team.

The Mayo Clinic is a very impressive place. The facility was modern and immaculate, the staff members were friendly and efficient, and most importantly, the doctors were thoughtful and thorough and extremely intelligent. While the “Eureka!" moment I had imagined did not materialize, my parents and I left Rochester with a new idea and a little bit of hope.

The cardiologist there believes I might be ultra-sensitive to one of my main medications, tacrolimus, which may be responsible for my extreme fatigue. Tacrolimus is very standard immunosuppression treatment following heart transplantation and is typically tolerated very well. However, it is known to contribute to problems like diabetes and kidney disease, two afflictions I have had since beginning the drug. I’m hopeful that my sugars and kidneys will show improvement once I stop taking it, but my hope for relief from my fatigue is more guarded. I have learned the hard way that it’s easier on the soul to expect the worst in solving this mystery.

To maintain sufficient immunosuppression, I will transition to a different drug called sirolimus over the next month or two. Sirolimus is used in kidney transplant patients and has been less commonly used in heart recipients. I’m aware of some unlikely but grave side effects that have been seen with sirolimus, but my new cardiologist does not anticipate any problems with the switch. I had also considered this drug with my NJ team in the interest of protecting my kidneys, and they were likewise supportive.

I began the transition on Tuesday. This first stage introduces the new drug while maintaining my regular dose of tacrolimus. Next, I’ll begin reducing tacrolimus and increasing sirolimus until I reach a therapeutic level of sirolimus. I’ll have regular lab work, which will be monitored closely by my team at Mayo. I expect to feel any significant changes within the next three months.

If the move to sirolimus only prevents me from requiring a kidney transplant within five years (the path I’m on with tacrolimus), that will be a win. But the true opportunity here is to get my life back. I can no longer even remember what having energy feels like and can hardly imagine a life without this crushing fatigue. What bliss that would be.

Regardless of the outcome, I am grateful to the fine folks at the Mayo Clinic for truly listening to me, offering really thoughtful insights and ideas, and for showing my parents and me that genuine Minnesota hospitality. Don’t cha know.

Stay tuned for...the REST of the story.

Single and Sick at 31

Lots of people get sick. Actually, most people get sick eventually, as the great majority of deaths are caused by some form of illness (the leading one being heart disease – not that I’m competitive). Some become ill way too early, without ever really having lived. Many become ill after seventy or eighty good years. Plenty of people get sick in their thirties and forties and fifties, many that are married and/or have children.

I’m willing to bet there are not many people that become ill as young, single adults – emphasis on single. While I have been glad not to burden a loved one with my needs and challenges on a constant basis, I do find unique difficulties in facing serious illness without a spouse or significant other. Even if living alone were never a problem (and thanks to friends and my moms’ visits, it hasn’t been much of one for me), facing the future as a single woman at 31 can be overwhelming.

Being single at 31 is daunting in its own rite to most healthy women. Some people get lonely. Those of us that want children are cringing as our biological clocks tick. We imagine the worst a single life has to offer. We are truly delighted to celebrate with our friends getting married and having babies, yet we grow more insecure with each announcement.

When you combine that with chronic illness and no real certainty for the future, the picture becomes more difficult to paint in a positive light. I try to embrace hope and positivity when considering the future for my body and my health, but it’s difficult to imagine meeting a guy that wants to jump on board. I’m not exactly “out there” meeting people due to my ongoing fatigue, and most men don’t seek out women with truckloads of baggage.

I’ve never been one to rue the single life or force fit relationships to avoid being alone, but I have always expected to one day meet the love of my life, get married, have children and live to become a grandmother. Maybe I watch too many movies, I don’t know. I guess I was more comfortable being single before I got sick, since I could plausibly imagine embarking on my Hollywood ending at any moment. I struggle more now, with the fear that I may never again be well. I might never recover the energy that has eluded me for eighteen months.

I just finished watching the movie “Love and Other Drugs” with Jake Gyllenhaal and Anne Hathaway. It actually helped me imagine a rewrite to my Hollywood ending in a way that befits a girl with ongoing health challenges and an uncertain prognosis. Rest assured this is a very loose parallel since the movie is far more scandalous than my relatively boring life, but I was brightened a bit by the potential of a long-term relationship for a girl facing long-term illness.