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.

My Borrowed Heart and Other Parts

After 22 months with my new heart, it’s hard to believe that I am just two months away from my two year transplanniversary. A lot has happened since I was given a second chance at life. Today I’d like to celebrate all of the wonderful things I’ve been able to experience since having my faulty heart swapped out for T’neil’s healthy one.

November 2010
Thanks to my borrowed heart, I was able to return to work without any tubes or equipment dangling from my body. My giant steroid-enhanced face and I were so happy to get back to it!

April 2011
Thanks to my borrowed heart, I have been able to experience the pure joy of meeting and knowing the sweetest nephew imaginable. He entered this world in April of last year, and I got to celebrate his first birthday with him in Atlanta a few weeks ago. Without my transplant, it’s highly unlikely I would have lived long enough to meet this amazing little guy. I hope to have my own children one day, but for now the little monkey man gets all of the love from both of my hearts!

June 2011
Thanks to my borrowed heart, I very nearly ran a full mile at the Share NJ 5k last June. A bunch of great friends came to help me along the way and celebrate afterwards. I had begun struggling with fatigue a couple of months beforehand, so the amount I ran felt like a big accomplishment.

June 2011
Thanks to my borrowed heart, I was able to see two of my very good friends become husband and wife in June of last year. Marguerite and Chris have been good friends of mine since our days in Charlottesville, and we became much closer when we all migrated north four years ago. These are two of the nicest and most thoughtful people I know, and being a part of their wedding was so special for me. I even hit the dance floor a few times, something that would have definitely been impossible without my strong heart.

August 2011
Thanks to my borrowed heart (and my parents!), I welcomed my new roommate Piper to Princeton in August! Piper is my sweet puppy dog – half Boxer, half Pug. She was my parents’ dog for two years before she came to live with me, and she makes me so happy. I love coming home to her cute little face and wagging tail (she actually wags her whole butt - why limit oneself to the tail?). I swore she wouldn’t be allowed in my bed…and I lasted about six months.

October 2011
Thanks to my borrowed heart, I achieved my goal of getting promoted at work. I felt like something of an underdog when I first joined the company just because of my work history and legitimately became disadvantaged when I got sick, so the promotion was such a sweet and triumphant accomplishment for me.

December 2011
Thanks to my borrowed heart, I got to witness my best friend marry the love of her life in December. Amy and I were randomly paired as college roommates in 1999 and we lived together for a grand total of about seven years. I don’t think we could be any closer. Celebrating her wedding weekend with her was so special to me, and it makes my heart ache to imagine having missed it. Thanks to my new heart, I didn’t have to.

I tried to find synonyms to reduce the number of times I used the word ‘special’ above, but that’s really the right word for all of these experiences. They were special. Each was special in its own rite, but they were all that much sweeter knowing how easily I could have missed them.

I sure would like the rest of my parts to perform like my borrowed heart, but without my borrowed heart, none of the rest of my parts would matter. So I remain incredibly grateful for this heart and continue to fight for the rest of my body to catch up.

Weekend Fun

Quick update from my world:

First, I am fine and am feeling good. Second, my hospital has finally updated its telecommunications systems to allow for reliable and continuous internet access (though the TV lady going room to room)!

I've been in the hospital since Friday afternoon being treated for level 3 rejection.

About two weeks ago, some regular blood work I do to detect possible rejection (called allo mapping) showed that rejection was likely present. I had a biopsy on Thursday morning, which confirmed the highest grade of rejection - level 3. Rejection is not uncommon and I've been very fortunate to avoid it for a long time, but at this level it requires inpatient treatment, which is why I'm here in my old stomping ground.

I was told I'd have three infusions of high dosage steroids Friday, Saturday and today (Sunday) to suppress my immune system and quickly stop it from rejecting my heart. I have tolerated the first two infusions very well, with leg pain being my worst complaint (a wonderful thing!). The third is coming soon and should be no different, so the the plan was to go home this evening.

At the same time, we have been adjusting my oral immunosuppression meds to make sure my body doesn't go back to rejecting the heart once the steroid treatment is complete. For some reason my body is reflecting even lower levels of these meds despite the higher dosages, which has allowed me to maintain my status as the most bizarre and perplexing patient ever.

I hope it's just a temporary fluke but I have to stay another night with higher dosages and see what my blood shows tomorrow. If my levels look right, I will be able to go home tomorrow. If not, the hunt for answers will continue.

The best news of all is that I have shown no signs of reduced heart function, so it doesn't appear the rejection has been present long enough to cause any damage. I'm optimistic that the treatment will be effective and will know for sure after I have another biopsy within the next week.

Reason #73

Reason #73 to wear your Donate Life bracelet: you’re ready for St. Patrick’s Day 365 days a year! Piper and I ventured out to the dog park today, where a lot of people were rocking their green. Fortunately, our support for organ donation prevented us from being pinched. It didn’t prevent her from being molested by a big bully, but that’s a different story for a different day…

A lot of people are celebrating St. Patty’s Day today. I’m not (though I’m a bit envious of the green-beer drinking twenty-somethings), but I did find reason for celebration when I read the paper this morning. With an MBA, it seems, comes an implicit obligation to read the Wall Street Journal. I only partially fulfill my WSJ quota by receiving the Saturday paper…and I even read it most weeks.

Last week I was enraged to come across an article entitled “What You Lose When You Sign That Donor Card” featured prominently. The title alone alarmed me, but the content was truly outrageous. I was so disappointed that such a highly respected business periodical would publish such paranoid, biased and largely untrue words. The article was designed to feed the fears and uncertainties of organ donation critics, and I’m quite sure it was successful.

The reason for today’s celebration was discovering a letter to the editor today in response to the article. It was written by two physicians and the President and CEO of the New York Organ Donor Network. The words were carefully chosen and the message crystal clear: shame on you for publishing such misinformation. My only regret is that many more people read last week’s prominently placed piece than found this important response buried deep inside the paper.

We Must Encourage Organ Donors

“Dick Teresi’s ‘What You Lose When You Sign That Donor Card’ grossly misinforms the public about both the medical determination of brain death and the organ donation process in the U.S.

“First, there has never been a documented case of patient recovery after a properly performed determination of death by neurological criteria. Ever.

“Second, the diagnosis of brain death requires extensive neurological examination, irrespective of a patient’s organ donor status or the family’s support for donation. Electroencephalography is generally no longer used because it’s outmoded, not because physicians have something to hide. When donation is an option, the organ recovery agency must verify that all clinical testing has been done and all legal documentation is in the patient’s chart.

“Organ donation saves lives. Eighteen Americans will die today waiting for a life-saving organ. We hope that Mr. Teresi’s misinformed comments do not add to that number.”

Eighteen people. TODAY. Let’s see what we can do to address this solvable problem, not make it worse. Shame on you, Dick Teresi. And shame on you, WSJ.