Not All Zebras Live in Zoos:
Nightmares of the Undiagnosed

Living in a body consumed by a serious, undiagnosed and potentially life-threatening disease, left untreated, is a nightmare no one should have to live … yet, in reality, thousands do. Like a prisoner erroneously incarcerated for a crime he did not commit, the undiagnosed rare disease patient knows, firsthand, the frustration, shame and trauma of being misjudged. Unlike the unfairly accused, whose sentence is well-publicized, the patient’s is far more discreet – a private, internal hell … that is his and his alone.

As an inescapable and sudden kaleidoscope of cascading clear bubbles replaces my customary vision, I’m surprisingly not alarmed … which seems strange given the significant distortion it creates. If anything, I’m both mesmerized and confused as each bubble, in the effervescing waterfall it creates, bursts – only to be replaced by a new one.

Rationalizing that I’m probably just tired, I’m slightly taken aback when, glancing over at my husband (standing just a few feet away), I can’t discern his eye color – other than from memory. Before I can verbalize this mystifying observation, he urges me to lie down. With undisguisable concern in his voice, he notes that I don’t look well. Though probably overkill, his persistence is so out of character for someone who has never been an alarmist regarding health issues, I respect his worry … and acquiesce. 

As suddenly as they came on, the bubbles cease the moment I enter our bedroom. Deciding to read the newspaper, however, proves to be an exercise in futility. Something’s wrong with the print – letters are missing in every word. Unwilling to struggle further trying to figure out the omitted letters in these resultant alphabetic blurbs, I allow myself to drift off.  

Birds chirping their sweet, high-pitched conversation outside our bedroom window, serve as nature’s alarm clock, reminding me that a beautiful new day has dawned – or has it? Enjoyment of this complementary symphony is compromised by my preoccupation with eyes that hurt so badly that if I didn’t know better, I would swear they were broiled. Spontaneously reacting to the intolerable pain, by lightly massaging my closed lids, only intensifies it. Opening my eyes for the first time this morning, my lips become parched, my palms sweat, my heart beats rapidly and my throat dries as I experience a new emotion since first seeing the bubbles: fear. 

Knowing that the wall opposite our bed is not blank, it is unnerving that my awareness of the wreath that hangs in the center of it is from memory only … with no amount of panicky focusing enabling me to visualize it. 

Adding to my distress, my entire body is suddenly invaded by other new and scary symptoms. Inexplicably, I’m no longer able to support my weight on my right leg without falling; voodoo-like pins-and-needles penetrate my body with deep, stabbing head-to-toe pain, my speech is slurred and word retrieval requires overconcentration.

I’m urinary incontinent, dizzy and drool uncontrollably; I experience severe headaches and have difficulty swallowing. There is an unfamiliar deep pain in the back of my neck and I’ve developed concept dyslexia. During sleep, I’m catapulted off my pillow, involuntarily, by a jolt deep in my head, (accompanied by transformer-blowing-like-sparks.) Depth perception distortion, nausea and forceful, uncontrollable limb jerking have also inexplicably begun overnight. Little did I know this was just the start of a diagnostic nightmare that would continue, unresolved, for more than a decade … while testing my determination to live beyond measure. 

Initially, I pursued answers from local specialists in numerous fields of expertise. Invariably when my blood work and scans were normal, - which they usually were, - I was demeaned and dismissed by the medical community. More gravely ill than I’ve ever been in my life, I was told that I looked too well to be as sick as I claimed and advised to go to lunch with friends to distract myself from focusing on an illness that didn’t exist.

One neurologist propped his feet up on his desk and folded his hands arrogantly across his chest, staring silently at me for the first fifteen long, awkward minutes of our initial - and only - visit. At the conclusion of this virtually speechless consult, I was confused and at a loss as to what to make of it. Ironically, he found his voice enough to inform me that I did not need the services of a neurologist – nor should I be wasting his time when there were patients who did. 

In his report to my internist, he detailed several tests he supposedly conducted - but clearly did not - during the superficial exam he performed in the three minutes I was on the table. Tears stung my eyes as I stumbled leaving his waiting room, visually disoriented by the high ceilings and unfamiliar surroundings - but it was the unshed tears, hidden way down deep, that reflected the reality that scared me the most: without medical intervention, I could die. 

At the conclusion of the neurologist’s report, he informed my internist that he advised me to see a psychiatrist, in lieu of any clinical findings on his part. Acknowledging that I didn’t agree with what he had to say, he pointed out that I’m a smart woman who would probably reconsider once I got home, and come around to his way of thinking.

Disgusted, I went elsewhere. Noting that I was unable to feel the ice-cold temperature of sheets on my lower legs, feet, forearms and hands (on a frigid winter night), but could on my trunk, thighs and upper arms, a different neurologist told me to get a grip.  According to him, that observation was not indicative of a neurological abnormality - but I had my doubts. Since the bubble incident, our normally cold ceramic tile bathroom floor felt like room temperature against my bare feet. Besides, other doctors noticed instruments were ice cold on some parts of me and warm on others. Something had changed dramatically.

Determined to find out what, I scheduled an appointment with a distant neurologist described to me, by another doctor, as the guru of neurology. I didn’t find that to be true. Based on my wide array of symptoms, - with surprisingly little objective evidence - he concluded it must be psychosomatic; despite some abnormal blood work, he felt the findings were too few to support organic disease.

A rheumatologist I consulted advised other specialists that I demonstrated no evidence of rheumatologic disease – nor were any future appointments indicated. Another told me to take a vacation on Cape Cod whenever I described my symptoms … or the pain associated with them. One criticized me in his report for showing up with a handwritten list of symptoms. (Ironically, patients are urged to do just that, today, to avoid omitting important information.)

With each demeaning dismissal, my fear of dying escalated – while my confidence in doctors plummeted. During this uncertain time, I had an especially unnerving experience in which my first conscious awareness upon awakening at 3:00 a.m., was of my fists clinging to our mattress fearful of falling off the bed as the room spun around me - leaving me dizzier by the moment. Nauseated as I looked up at a ceiling that appeared to be rotating faster than any carousel I’ve ever been on, this was quickly becoming a nightmare … but not one I would soon awaken from. 

With clammy skin, searing bilateral head pain, a racing heart and profuse drooling, there was no doubt I belonged in the E.R. – but did I really want to go again, for the umpteenth time, as in similar past situations? By now, I knew the routine cold … give some resident the same medical history I’ve given countless others,- expect, (and get!), his bewildered expression betraying that he doesn’t have a clue, then wait in a stark, curtained area while he consults his superior, (which can, and has taken in excess of three hours in the past). Typically, both doctors return, do blood work and offer a scan or two … only to find everything “normal”. Sometimes a psychiatrist is recommended because of “non-clinically substantiated complaints”. I’m then discharged, every bit as ill as when I arrived, knowing in my heart it will happen again and again – all the while praying I find a physician with the expertise to identify, (and effectively treat), whatever is raging inside me … before it is too late. 

Looking at my husband sleeping peacefully next to me, I made a decision others would undoubtedly question – to remain right there. Electing to skip the E.R., I snuggled into the peaceful calm of his strong, loving arms.

Being insulted by one-too-many physicians, unfamiliar with whatever undiscovered disease I have, has taken its toll. I’m tired of being the target of misplaced frustration generated by an inability to diagnose my case and/or egos that prevent referral elsewhere. While in the past I had little control over their inaccurate assumptions, insensitive treatment and disbelief in my credibility, this was one time I did have a choice – and I intended to exercise it. There would be no E.R for me that night. What a pathetic and scary commentary on what can happen to a patient repeatedly dismissed, by a profession she did everything in her power to trust … only to encounter consistent rejection.

Desperate, I find myself overcompensating to even approach living the life I once knew … and yet, I have no idea what I’m overcompensating for. There are no words to describe the humiliation and shame I’ve endured by not having a name for this omnipotent force consuming my body. I don’t understand what caused my world to change so dramatically - nor can I find anyone else to explain it. All I know is a big piece of the “me” I once knew no longer “is”. Replaced by a stranger who has taken up residence in my body, this new occupant is foreign to me … transforming my confidence in previous surroundings into insecurity in a strange new world I need all my concentration to navigate. Even at that, there are times the intruder – far more powerful than me – appears to be winning. 

As determined as I am to understand this bizarre intrusion, more importantly I want it to go away. At the end of every day I pray to wake up the “old me”, with the sense of relief one experiences when they awaken from a nightmare - yet, my nightmare, (or, more accurately, ours’), continued. During twelve of my pre-diagnostic years, my husband was jarred awake at least three times a night, our bed vibrating … from my trembling – but unaware – soundly sleeping body.

With inexplicable continually diminishing eyesight and head pain so intense sleep was impossible, I was desperate for a positive distraction to help maintain my sanity. I began journaling during the wee hours – as my household slept. Little did I realize, at the time, that these tear-streaked pages would eventually evolve into a book, But Doctor You’re Wrong! (but that’s jumping ahead).

Meanwhile, my life becomes more challenging by the day … with familiar objects looking different, to me, than to others. For instance, I asked a receptionist if I could borrow her hand sanitizer, as she patiently explained that what I was pointing to was actually the office’s date stamp. Yet, through my distorted vision I could have sworn it looked like the bottle of hand disinfectant my eldest grandson renamed “germ squirt”. Situations such as this made me feel like I lived on another planet – among people who spoke a language I didn’t understand. 

Having exhausted every strategy I could conceive of to convince my physicians of how severely ill I really was, I was running out of options. In desperation, I obsessed with imaginative, though unrealistic scenarios for attracting their serious attention. For example, one involved those kiosks at malls that allow you to push a button to hear a portion of a C.D., prior to deciding if you want to purchase it – only my mind wasn’t on music. Instead, I was preoccupied with how diagnostically meaningful it would be, (not to mention affirming to me), if the physicians who didn’t believe me – and turned me away untreated – could press a button and experience my symptoms, firsthand, for just a minute. Undoubtedly, they would develop a new found respect and compassion for ill patients with unidentified, serious conditions.

Guilt interrupts my desperation-induced reverie. I couldn’t intentionally impose the way my body feels on my worst enemy. Although, at my next new consult, after describing numbness and tingling in my hands (which I’ve since learned is neuropathy), I reconsidered that decision when the doctor asked me – within earshot of other patients – if I was sure I didn’t just have a deep-rooted masturbation anxiety manifesting in my hands. How does a legitimately ill patient even begin to respond to a question like that?

Demonstrating the desperation of a prisoner jailed for a crime he didn’t commit, pursuing top lawyers to prove his innocence, I lived the all-too-familiar lifestyle of scared, undiagnosed rare disease patients everywhere – frantically consulting medical experts nationwide. 

Disconcertingly, after multiple plane trips across the United States, (not to mention numerous nights living out of suitcases in expensive hospital-affiliated hotel rooms), all I had to show for it was a depleted bank account. I was no closer to an answer than when my marathon diagnosis seeking journey began.

Meanwhile, maintaining my self esteem became more challenging by the day, as exasperated professionals berated me for claiming to be ill ... when no tests confirmed it. However, like a mother who knows her own child - and has that extra sense to realize when something is wrong – I know my
own body. If some doctor didn’t diagnose and treat me soon, my journal may remain unfinished – forever.

What a Difference the Right Doctors Can Make!

A month after an evaluation at one of the most prestigious medical facilities in the country, (where I was told nothing was physically wrong with me), a new, local internist was recommended. Desperate, but skeptical, I made an appointment. 

Convinced that if experienced specialists couldn’t figure it out, this physician didn’t stand a chance, I soon learned how wrong I was. With the kind of attentiveness a roof collapsing in the next room couldn’t penetrate, my new doctor focused on every adjective I could come up with to describe my
symptoms. Unlike other consultations I did not feel pressured to rush though my medical history … nor cut off, midsentence. Indicative of his respect for what patients report, he chose not to rely on past, (often inaccurate and biased), medical records sent from one physician to the next. Clearly, this well-credentialed doctor had his own mind and intended to use it … a reassuring approach considering my, to-date, undiagnosed status. I was encouraged when he didn’t dismiss (as insignificant like others had), the shiny, raised, symmetrical, acne-like facial bumps I questioned. However, there was no mistaking his greater priority: the serious neurological event interrupting my sleep, which he vowed to investigate.

Further, he addressed the severe pain, which previous physicians ignored …, in the absence of a diagnosis. Handing me a prescription, I was a little caught off guard – in a positive way- by his compassionate and sensitive demeanor. What a refreshing change!

Finally, he assured me that normal blood-work would in no way discourage his efforts to pursue a diagnosis. He explained that some very serious conditions don’t always show up in the blood, (as I sat there regretting that previous physicians hadn’t even considered that). Convinced that I had a severe form of vaculitis (an inflammation of the blood vessels … of which there are many types), he vowed to get to the bottom of it … and, although I had no reason to believe that, somehow I did – maybe I just needed to. From that day on, my medical care changed dramatically – and for the better. Unlike the others, he did not see me as wasting his time with a condition that didn’t exist.

Monitoring me closely, he questioned symptoms no doctor asked me about … and researched them on his own, after office-hours’ time. Listening closely – and really hearing what I was saying – he methodically pieced the puzzle together. Referring me to a neurologist, (because he suspected seizures), abnormal brain wave activity was confirmed … and seizure medication was prescribed, reducing the nocturnal arousals and drooling. Further, a cardiologist addressed the abnormal heartbeat, an ophthalmologist discovered optic nerve hemorrhaging and glaucoma, and a gastroenterologist treated vascular intestinal symptoms. Most importantly, narrowing it down to the specific disease he suspected, my internist referred me to a nationally respected rheumatologist who diagnosed Behcet’s Disease, (a severe form of vaculitis that can lead to blindness, seizures and strokes… among other symptoms). It is one of over 7,000 rare diseases currently recognized by the National Organization of Rare Disorders, (N.O.R.D.). I tested positive for the genetic marker HLA-B51, (a blood test no other rheumatologist had ordered).

I was given chemotherapy and steroids at my first visit, five years ago … and have remained on them ever since. Anti-inflammatory infusions have also subsequently been prescribed. (Ironically in the past, both neurologists and rheumatologists told me never to come back; yet they are the primary specialists who diagnose Behcet’s).

I will never forget the day I first saw this rheumatologist. In disbelief, my husband and I listened, spellbound, as he explained, definitively, what I had … and, more importantly, how to treat it - which is all I ever asked for from the beginning of this diagnostic nightmare. 

Two Years Later

I’m somewhat awed, but not in the least bit insecure, as Eddie and I are asked to join a semicircle of interventional Neuro/Radiologists at a well-respected out-of-state medical institution. (A few months prior, in August 2009, I was ambulanced to a local hospital with a brainbleed. While there, an angiogram of my brain was conducted. Today’s visit is to allow experts in the field to review the films which I brought from the other hospital.) While they know, and can explain, technically, what they see on the scans, I know my own body ... and can detail what I experience, daily, better than anyone else. I’m ready!

Methodically, for well over an hour, the head specialist scrutinizes every image. Not only does he locate the recent brainbleed but, more importantly, another revelation that unmasks a world of mystery associated with my case. In an awed, “Aha” voice, he verbalizes that the “bubble” incident was actually a deep undetected brainstem stroke … accounting for every symptom I described, to over 100 physicians, for more than a decade.

As he placed a comforting hand on my arm and my glistening eyes looked into his, appreciatively, everyone in the room was momentarily stunned silent, trying to absorb the magnitude of what he just revealed. Once they did, it felt like the entire room was giving me an emotional group hug; reflected in their eyes was the realization of what I’d endured independent of necessary medical intervention, and supportive stroke rehabilitation, while having done everything in my power to obtain it.

Tears of the undiagnosed are shed by some of the strongest people you will ever meet. Motivated by desperation to save lives that often, they, are the only ones aware are in jeopardy - patients with debilitating, severe rare conditions struggle through horrific scenarios.

Suffering life-threatening illnesses, many rare disease patients are forced to expend already compromised energy proving they are really sick – to skeptical physicians, relatives and friends. Cringing every time they hear how good they look, in reality many know they are time bombs ticking … with deafening warnings that go unheard. Repeated screams for help receive about as much attention as a crime victim … too scared to utter an audible peep, (much less shout). The difference is patients’ screams can be heard – but, inexcusably, are too often ignored.

For decades, I lived in a world of unspeakable inhumanity, unable to convey my living hell – or, more importantly, get help. Inexcusably, too much time elapsed before I was believed. By then, I’d sustained irreversible damage to my eyesight and various vital organs. It frustrates and angers me beyond words to learn, from a glaucoma specialist, that had I been referred earlier – when I first sought help – my prognosis would have been much better. Instead, the goal is to prolong what vision I have left – for another decade.

As difficult as this disease is to live with – and I won’t even begin to pretend it isn’t one of the biggest challenges I’ve ever faced – it isn’t my toughest obstacle. While I can take pills to lessen the intensity of the daily seizures, achy muscles and joints, and residual stroke-related symptoms, there is no pill I know of to ease the indifference and denial of some of my closest friends … and a few family members. Like rejection from previous physicians wholiterally closed doors in my face, I feel the biting sting of dismissal and lack of compassion as they, too, close doors in their own ways … and it hurts. Just the fact that they haven’t acknowledged the brainbleed, knowing I was ambulanced to the hospital and admitted to Neuro/Intensive care, in a life-threatening situation, tells me more than I care to know – or face. Their unmistakable indifference rears its ugly head every time others show concern - usually in the form of noticeable disinterest. Suddenly, a song from college, asking how people could be so heartless has taken on new meaning since my hippie days.

Sharing my story required going out on a controversial limb … transforming from the compliant patient we’ve all been trained to be, to one who questioned medical treatment, authority and, at times, ineptitude. The courage to do so resulted from living with the irreversible consequences of misdiagnosis and untreated disease. Incomprehensible as it remains to me, I endured – independent of medical support – the repercussions of an unidentified deep brainstem stroke … caused by a serious
disease that was also missed. Both conditions required immediate and aggressive medical intervention – not over-the-counter experimentation by a dismissed patient desperate to save her own life. Though the compliant, unquestioning patient may seem like the ideal, had I been one, I sincerely doubt I’d be here to share my story today. 

Determined to help other patients, I sent a post-diagnostic letter to the 100-plus physicians I consulted prior to learning I had Behcet’s. Embarrassingly for the medical community, only two responded. One was among the most competent doctors I’d seen, while the other tied for the most arrogant.

The first one apologized for missing the diagnosis, informing me he went over my chart with a fine-tooth comb since receiving my letter, looking for any clue he might have missed. He then asked for more specific information about my symptoms, explaining he wanted to be sure to recognize them if another of his patients presented with Behcet’s. I admire this physician for being secure enough to admit a diagnosis eluded him – and humble enough to learn not only from another physician’s diagnosis but from his patient. If only all doctors realized how much more patients respect this kind of honesty! What a refreshing and life-saving approach compared to specialists who practice with the attitude that if they can’t find it, it doesn’t exist! After all, isn’t saving lives – regardless of who does it – the priority?

It came as no surprise that the second doctor, the one who recommended psychiatric care in lieu of clinical findings, thanked me for letting him know I “developed” Behcet’s since seeing him … five years prior. (Ironically, we now know I’ve had the disease since childhood.) Defensively qualifying his unprofessional note, riddled with misspellings, he acknowledged that although Behcet’s is associated with eye involvement, he doubted that the eye symptoms I reported to him were necessarily related. Fortunately for me, specialists far more versed in this disease, thought otherwise.

Though doctor/patient dynamics are inarguably changing, in positive ways, considerable inequity still prevails – with patients having too little control. For example, if a physician, (or several!), fails to diagnose a severely ill patient, these professionals can, (and sometimes do), require patients to undergo psychotherapy … before accepting that they might have missed a clinical cause. In extreme cases, patients have been erroneously admitted to psychiatric institutions with elusive, but later identified, life –threatening physiological conditions. Conversely, dismissive physicians who refused to treat these “hypochondriacs” are often not held accountable for their demeaning rejection and potentially dangerous lack of treatment. It occurs to me that a therapist might be useful to them, in overcoming any close-mindedness that interferes with their ability to believe their patients might be clinically ill … even when a diagnosis eludes them. In dealing with a person’s life, we don’t always get a second chance!

Disconcertingly, rare diseases will continue to present diagnostic dilemmas, and claim lives, until patients are given more credibility. Actual accounts such as mine need to be a part of the required curriculum in medical schools. Not only will sharing these real stories leave a lasting impression on future physicians … it will produce better diagnosticians.

Ideally, doctor/patient committees, representing both perspectives, could be established to work toward a common goal: earlier recognition of rare diseases.

Further, accountability for diagnostic errors is essential to prevent misdiagnosis, of the same rare conditions, in the future. Toward this end, patient input must be considered as a respected voice in physician evaluation. Based on my experience, I think there should be a program in place in which a patient could alert the A.M.A. of any doctor(s) who dismissed a serious illness as nonexistent … with the security of knowing the practitioner would be participating in a mandatory refresher for the particular disease. 

As long as rare diseases exist, patients will show up on doctors’ doorsteps with them. Suffice it to say, while it is unfair to expect physicians to recognize the symptoms of more than 7,000 rare diseases, it is unconscionable to deny treatment to a patient presenting with one. I’d like to see education of rare diseases become more proactive to prevent this from happening. For starters, medical schools need to eliminate advocating that when you hear hoof beats you should look for horses, not zebras. Consulting a physician who strictly adheres to that mentality can be a death sentence for a rare disease patient who requires outside-the–box thinking in order to get diagnosed.

The bottom line is that significant change needs to occur to assure future patients don’t have stories like mine to share. The goal in publicizing my experience is to empower patients to demand a respected voice in their own health care – not only in theory, but in practice. Every negative medical encounter described in these pages occurred in a setting where some sort of a Patients’ Bill of Rights was in effect; yet, somehow, they still happened … which tells me the current system isn’t working. 

Where one’s life is concerned, there are times it is necessary to be an assertive patient, rather than a compliant one. While it wasn’t easy, I repeatedly questioned and disputed inaccurate medical consensus. I’m convinced that finding the courage to do so is why I’m here today, telling my story.

To conclude, my diagnostic journey has been an education – unintentional as it may have been. I was subjected to the most dismissive and demeaning medical attitudes imaginable as I repeatedly sought answers for symptoms we now know were serious enough to require chemotherapy and seizure medications. During these indescribably scary years, I desperately needed a physician to explain what was wrong with me … not to mention extend a reassuring hand - yet no one did. Instead, I floundered on my own, unable to validate a world that had changed, inexplicably … overnight. With the inability to clinically prove what was going on, my symptoms continued … untreated. 

Tempted as I was never to step foot in another doctor’s office, intellectually I knew that was not an option. I was far too sick to manage this on my own … whatever was happening was clearly more powerful than me. Fortunately, just when the situation seemed like it couldn’t get more hopeless, my prayers were answered with an incredible team of specialists – every one of whom could serve as a role model for how patients deserve to be treated. Blessed as I am to have them, I cringe at the thought that other frightened patients might be lying in bed drooling, as their muscles twitch out of control, in pain too intense to describe – while they struggle to convey a real, but undiagnosed rare condition. Just the thought brings tears to my eyes – and a prayer for them in my heart. 

As a result of my experience, I’m driven to help other undiagnosed patients avoid similar diagnostic nightmares. By creating public awareness for rare diseases, I’ve attempted, on a local level, to bring attention to the fact that thousands of devastating diseases – most of which none of us have heard of –
impact a large segment of our society on a daily basis. In addition to sharing my personal story, I initiated a proclamation for National Rare Disease Day in our town and have been running support groups for people living with chronic illness. On a national level, I was honored to join the Board of Directors for INOD (In Need Of Diagnosis), an ambitious and dedicated patient advocacy group that I wish existed, to provide their immeasurable assistance and support, years ago when I was searching for a diagnosis. 

Hopefully these efforts, in conjunction with numerous public awareness strategies of others, will lead to more accurate and expedient diagnosis of rare diseases in the future.