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.

Being Alive vs. Living Life

Marguerite asked me recently why I hadn’t posted to my blog in a while. I started to answer and then paused. She quietly asked if it was because I didn’t have any good news to share. Bingo.

Since starting this blog, I’ve tried to illustrate my true balance of negative experiences with humorous stories and strong doses of optimism. As I’ve been struggling with fatigue this past year, it’s become increasingly difficult for me to summon much optimism at all. Without the offsetting moments of joy, I have hesitated to share my difficult times. I imagine that people might look at my situation and wonder how I could possibly be dissatisfied after rebounding from months on death’s door.

To those imaginary people I say yes, I have seen far worse times than this. I am alive, after all – a fact that I haven’t taken for granted one single day since October 19, 2009. But having survived just isn’t enough anymore. It’s not enough for most of us to simply be alive – not if we’re not actually living – so why would it be enough for me? In seeking more though, I feel guilty. I don’t want to seem ungrateful to my supportive family and friends, to the doctors and nurses that have brought me this far – or most of all to my donor and her gracious family. I’m trying to come to terms with honoring and appreciating my survival AND freeing myself to be unsatisfied with the way I feel. I want to feel good. I want to enjoy this life that I have!

I was catching up with a colleague a few weeks ago and explaining the “I appreciate being alive but it’s not enough anymore” phenomenon, and she responded with words that have been echoing in my mind every since. She said, “you want to feel good and live your life, and there shouldn’t be any guilt associated with that.”

So with that elongated introduction, here’s the skinny on what’s been going on.

I have been struggling with extreme fatigue for about twelve months now. We first thought my exhaustion was being caused by iron deficiency anemia, so I had iron infusions back in March of 2011. Despite an allergic reaction that made it a very uncomfortable experience, I had two weeks of extraordinary energy. I think it was probably a normal level, but I felt like Superwoman on crack compared to how I’d been feeling. And then it was gone. This left my transplant team scratching their heads, so I was referred to a hematologist.

The hematologist’s goal was to fix my anemia. After improving my blood iron levels with different dosages and types of oral supplements, I felt no physical improvement. I subsequently began monthly procrit shots (to help my body make red blood cells), which have addressed my anemia but have again provided no relief from my fatigue. The hematologist was out of ideas and advised that I consult my endocrinologist.

My endocrinologist was fine for general diabetes management, but I didn’t believe she was equipped to help me beyond that, so I would need to find a new one. But endocrinology was just the next specialty on the list – my fatigue might be related to my endocrine system, but it might be something a rheumatologist would need to address, or I might have a disease that only an infectious disease doctor can treat, or maybe it’s something that requires an allergist... With so much uncertainty and complexity, I wanted to find one place where a team of doctors could evaluate me from head to foot and coordinate with one another to identify, once and for all, the cause of my relentless fatigue.

For a couple of months, all of my eggs were in the Mayo Clinic basket. They are very adept at this sort of thing, and I just knew they could solve my problem. Unfortunately, they weren’t quite as excited about me as I was about them. I received a form letter indicating as much a few weeks ago.

I now have about a dozen different appointments within a couple of weeks with a handful of different practitioners – each independent of the next. I saw a new endocrinologist last week, who had some ideas (I just need to get some labs done). I’m going to make an appointment with an allergist shortly. I see my new heart transplant cardiologist (there’s been some turnover to say the least) this coming week to see if he might provide a referral to Mayo, which might be more fruitful than my individual request. I’ve had a sleep study, a cardiopulmonary stress test and a slew of blood tests, all of which have so far generated more questions than answers. Oh, and I have a full-time job.

The good news is that my boss is extremely understanding and flexible – otherwise, I’d be in an even bigger mess. Also my parents continue to be extremely helpful. The bad news is I’m drowning in appointments and trying to maintain my work, while feeling like a 90-year-old woman every single day. I’m exhausted.

So yes, I’m alive, but I am most certainly not living. I’m frustrated and running low on hope. And that, my friends, is why I haven’t written much lately.

It's T-Shirt Time!

Come one, come all to the 2011 Central NJ Heart Walk! It’s hard to believe that October 1 is just ONE week away! It’s definitely time to order the latest limited edition t-shirts!

I am honored to be this year’s survivor ambassador – what an improvement from last year, when I wasn’t sure I could even complete the 5k walk! Experiencing the energy at last year’s walk and having many friends (and my mom) walk with me was really special, and I hope to contribute to that kind of energy again this year. My goal is to give hope to at least one person early in his or her heart disease battle the way people did for me last year.

If you can join the fun but haven’t signed up yet, click here. The more the merrier! Our team name is We Got The Beat.

The We Got The Beat design team has created a versatile selection of shirts for your wearing pleasure – for men, women, toddlers and even pregnant ladies! Go to this link [fast!] to order yours: http://www.cafepress.com/heartwalk2011.

If you can’t attend but want to contribute to this great cause, please click here to make a donation. The American Heart Association works tirelessly to fund important research initiatives and to educate people about the risks and symptoms of heart disease.

Two of my very good friends already participated in the San Francisco Heart Walk – thanks so much to Rachael and Ioana! You guys are the best!

Tears On The Treadmill

I took this picture today because I got a new 'do... But I'm posting it here so you can see that my cheeks are FINALLY back to normal!
To those on or newly off of Prednisone, hang in there!

I came perilously close to crying on the treadmill last night. Not because I was in pain. Not because I was frustrated. These were tears of victory, of relief, of renewed hope.

A couple of months ago I decided I would participate in the Donate Life 5k in June, and I set a lofty goal. I wanted to jog one full mile of the 5k straight, without walking. In the time since setting this goal, gaining strength and endurance has proven far more difficult than expected. I’ve been pushing myself along, with nearly imperceptible increases in my workouts, but it just wasn’t getting any easier for me. Every trip to the gym was like a game of Russian Roulette, with no ability to predict which work-outs would be decent and which ones would feel terrible.

My best running workouts consisted of me getting on the treadmill for 45 minutes and jogging for three intervals of three minutes each. This got me to three quarters of a mile in three spurts. My plan was to continue gradually increasing my longevity, but something happened on the treadmill last night. When I passed the three-minute mark I felt like I could do another minute, so I kept going. And the same thing happened after four minutes, and five and even six – until I’d jogged seven minutes straight!! I know it doesn’t sound like much, but seven minutes is 230% of my previous best! After walking for about ten minutes to bring my heart rate back down, I was able to run another five minutes straight to round out the full mile.

I was nearly overcome with emotion – not because I had one good workout – but because of what that workout represented: HOPE.

I was told to expect to feel ‘normal’ about six months post-transplant. I still felt very sluggish at that point, and I feared I’d set my expectations too high. Now I see that maybe I was just running a little behind and I’ve turned a real corner here. Alternatively, maybe the iron treatments have caused an increase in my energy. I don’t know. Whatever is responsible for the way I’ve felt this weekend has given me renewed hope – that I can achieve my goal of running a mile straight in June and that I am not finished recovering from this ordeal. I’m just beginning.