Chasing Zebras: An NP Perspective on Being a Patient with an Undiagnosed Illness

When making a medical diagnosis, providers are told to rule out the "horses" before looking for the "Zebras". A zebra is defined as a very unlikely medical diagnosis. A good example is jumping to the conclusion that a mild headache is a brain tumor before ruling out other causes. The health care team should always rule out the life-threatening potential diagnoses associated with a set of symptoms, but also be looking for the most obvious and common causes of those symptoms. When none of the standard explanations fit, then we begin looking for Zebras.

Many of my family and friends know my saga... Numbness and hyperalgesia (increased sensitivity to pain) that began in early July. It started on my right side (first my face- leading to a diagnosis of Bell's palsy, but quickly down my arm and leg). Tests were done to rule out all of the scary or life-threatening things (Lyme, MS, Guillain Barre, Myasthenia Gravis, Meningitis, Neurosyphilis , HIV, etc). My neuro exams were always normal. The only thing abnormal was sensation. The symptoms spread to my left side and everything felt incredibly heavy. My legs and cheeks have been the worse. It isn't noticeable to others but for weeks it felt like it took immense effort to smile. My tongue was numb first on the right and then bilaterally, and any worsening of symptoms led me to feel like someone under the influence of alcohol who was trying to pretend I was sober. It took great effort to feel like I was speaking normally. After a while, these symptoms make you start to question your own sanity. None of them are testable or visible to others. I asked my doctors repeatedly if they could be psychosomatic but the feeling was that they were related to a physiologic insult. My EMG (Electromyelogram- fairly painful test of the electrical activity of muscle fibers) was normal. My MRIs and CT scans were normal. The only working theory was that I had developed a post-viral neuropathy which meant a cold virus I had before these symptoms started somehow affected my nervous system. The fact that it was on both sides and over the entire body was unusual. The neurologist told me that we likely wouldn't find the cause, but that it should get better over a period of months (from my reading I knew it could be up to one year or more).  

By August we were looking for Zebra diagnoses that explained my strange constellation of symptoms. At this point I was crowdsourcing my diagnosis (to colleagues, laypeople, everyone)... I was willing to consider any and all potentials and kept a running list of the things we hadn't yet tested for that we should consider. I was also working on accepting that likely we might never know the cause or how to make it better aside from sitting and waiting.

It was also in August, the really bothersome symptoms started- I had episodes randomly in different places all over my body of feeling like there were fire ants crawling on my skin, or of a burning/itching sensation. It wasn't traveling along a specific dermatome or nerve path. It was completely random and uncomfortable. I tried Gabapentin which I eventually stopped because I felt foggy all the time. I told my colleagues I felt like I had "gone from an A student to a B student". In addition to the fogginess I had a rising anxiety. I often felt like I was crawling out of my skin. It reached a fever pitch in September. I was able to exercise and physically could do everything I did before July, but the symptoms were getting the better of me mentally. My primary care physician was amazing and helped me navigate all of this. In mid-September, after many conversations, I mentioned to her something I hadn't thought of before: ever since last October, when I exercise and then go out into cool air, I break out in hives. The first time it happened it was disconcerting, but it happened a few times over a several month period so I didn't think anything of it. My PCP immediately suggested I see an Immunologist/Allergist who works in the local area and likes "zebra" cases.

At the same time, I took more control of the things I could control. I was back to baseline in my workouts. I started eating an autoimmune diet (thanks to the suggestion of a dear friend), and began acupuncture treatments. Two weeks ago, I saw the immunologist/allergist, who told me that my case was definitely "weird" (in a nice, "You are an NP so I can tell you that you are a zebra" way).  I told him about the numbness and the painful symptoms. Then I added in the hive piece. He immediately said "You have cholinergic urticaria". What the heck is that, you ask? It is an inducible hive disorder in which hives are causes by environmental stimuli (heat, cold, exercise, etc). The Mast Cells in the body (which are important in immune response and allergic response) are involved in the reaction, releasing histamine in the skin. (Too much of a good thing with those Mast Cells in this case).

What he said next really had me intrigued: people with chronic hive disorders often have a prodrome (an early symptom that indicates the onset of a disease or illness). This is often described as transient and patchy, either itching, burning, or painful sensations. The fix? An antihistamine like Loratidine (Claritin) every day to prevent the histamine release. He told me to try that for two weeks and if the painful symptoms improved, we know they were caused by the chronic urticaria. He said he couldn't fix or explain the numbness, but again reiterated there was nothing to suggest it was life-threatening. That said, there was hope that perhaps we had an answer to the painful symptoms. Two weeks later and the claritin is working. Today I had an episode of post-workout hives but I think that was in part due to eating some new foods I hadn't been eating on the autoimmune protocol diet. 

So apparently I have two unrelated issues, and the numbness and hyperalgesia have been making the hive disorder feel a lot worse than it had previously. Even on a day like today when the symptoms flare up a little, at least I know we have a path and a plan. I wouldn't have chosen to be a Zebra, but I'm thankful for persistent healthcare providers who helped me get to the bottom of things. (At least some of the things, since the numbness and hyperalgesia are still an issue, but I am hopefull they will improve).

I love mysteries... I don't love being one

In 5th grade, my parents met with my teacher because they were concerned that all I would read was Nancy Drew books. The original Nancy Drew series, the 80s reboot "Nancy Drew Files", all the Nancy Drew/Hary Boys crossover books, and the choose your own ending Nancy Drew books. I wanted to be Nancy Drew. The teacher told my parents that my reading ability was not in question and as long as I was devouring books I could read whatever I wanted.

As a pre-teen and teenager I wanted to be Nancy Drew. It was years into my nursing careeer that I realized solving medical mysteries brings me a lot of joy, and that in my own way I get to Nancy Drew the heck out of things. What clniician doesn't love getting thattidbit of medical history that no one has- that nugget that leads to an unexpected diagnosis. Pulmonary embolism is one of my favorite diagnoses because it often mimics other things. For my healthcare friends, there is a great book entitled "Mastermind: How to Think Like Sherlock Holmes" that lends some insight into looking at things differently. 

So on to my medical mystery.  I'm sharing because if you work with me you have likely seen me as a patient this week, and I am open to other thoughts/suggestions. Here are the highlights:

- After fighting a cold (sore throat, cough, etc) for a week or so, on Saturday July 6  I noticed in the morning that my right cheek felt numb. When I say numb, I dont mean without any feeling, more that "pins and needles" feeling you get when novocain at the dentist is wearing off or a limb is waking up from being asleep. My motor activity was still intact. No slurred speech, no facial droop. My healthcare friends will understand this: I knew I would not consent to tPA just for this facial numbness, so I didn't rush to the ER. I was thinking perhaps Bells Palsy. I eventually went to the ER, got lab work including testing for Lyme, and antibiotics for possibly Lyme.

- Sunday July 7- I woke up and the numbness was still in my face but also down my arm. ER trip #2. CT and CTA (CT scan with contrast to look at the blood vessels) of my head and neck. Brain and carotids looked great. Then an MRI of Brain, C, and T spine. All totally blissfully normal. I was now on Valtrex in the event it was shingles or another viral issue, and Doxycyline. At this point we ruled out some of the scary things: stroke, MS, carotid artery stenosis, ALS, and a variety of infectious disease.

- Wednesday July 10- woke up and the numbness was going down my leg (now on my entire right side). A neuro exam showed I'm actually hypersensitive to pain but have the constant pins and needles (the good news there is I don't have to worry about getting an injury and not feeling it).

I ended up back in the ER so my very awesome neurologist could assess me, and they ordered a Lumbar Puncture. My cerebrospinal fluid was normal, except for a high number of lymphocytes (a type white blood cells) which suggests there had been an infection. 

-Thursday July 11- Developed a wicked spinal headache from the LP. I have a pretty high tolerance for headaches after 30+ years of migraines. This was pretty horrendous. Caffeine and hydration are the antidote. The alternative is a blood patch but we saved that as a contingency if the conservative management didn't work.

- Saturday July 12- Woke up to pins and needles on my left side. (Not nearly as bad as the right, but there nonetheless). Saw the neurologist and since motor function and reflexes were totally intact there wasn't really anything to do but wait. He still thinks this is a post-viral syndrome that will burn itself out. 

- Monday July 15- the spinal headache was still unbearable. Went to the ER where we tried IV caffeine (IV caffeine...all the coffee drinkers reading this are thinking yeeeesssss!). It was about the equivalent of 9 Mountain Dews. I was shaky but the headache persisted. 

So that led us to the blood patch. Not my idea of a good time but at some point you just want to feel better. 

Tuesday July 16- My back is sore for sure, but manageable. The numbness is still there. It hasn't gotten better since it started. As I've described to alot of colleagues and friends, my tongue feels funny so when I speak I feel like an intoxicated person who is trying to sound sober. (But my speech actually sounds normal). The ongoing opinion of neurology is that this is the effect of a virus I had previously and it should hopefully improve over time.

Lessons Learned

- Sometimes you have to find peace with uncertainty. This is definitely frustrating but there hasn't really been an alternative option. We've ruled out all of the big bad things, so that is the silver lining on which I need to focus.

- 4 ER visits in 8 days starts to make you feel like a crazy hypochondriac. Friends and healthcare providers who validate your medical concerns help you to feel less crazy. (and yes...I have asked multiple providers if this could be stress/psychosomatic and no one believes it is).

- The simple gesture of a doctor or nurse pulling up a chair to talk to you when they obtain a history or perform an exam makes all the difference in the world. I know how busy nurses and providers are, but so many have taken the time for me this week. 

So many thank-yous to my hospital family, my actual family, and my amazing friends. In the grand scheme this numbness isn't a huge deal...but the journey to ruling out the big bad neuro insults and the ongoing addition of symptoms definitely led to a few stressful days.