Nonspecific: A Story About Diagnosis

Fri, 05 Jul 2024

Uncategorized

It was late 2015. In a lot of ways, I felt on the top of my game and I thought I had life figured out. I was wrapping up a master’s degree in computer science. I had a 4.0 GPA. I could bench press 250 pounds. I had a girlfriend. I had my own car. I was renting a room just down the street from my school. I spent most of my time studying, at the gym, or playing music.

I had delayed entering the workforce and turned down a job offer to get more into research with a master’s degree. After a year and a half in graduate school as a research assistant, I was excited to start a career in data science. My thesis project was for all intents and purposes done, I was just wrapping up a course on advanced software processing and network security and I’d be set.

In some ways, I felt invincible. Emboldened. Like a phoenix arising from the ashes, I had arisen from a string of failures a few years prior. My parents divorce had thrown me out into the world with little money to my name. At the same time, I broke up with a girlfriend and was rejected from music school. To make matters worse, my father was too strung out on heroin to do his taxes, preventing me from collecting financial aid.

But, I wasn’t going to let that stop me. I put my fear of math aside, and changed my major back to what I originally wanted it to be in high school: computer science. I got a job as a video store clerk to pay for my tuition and books. I discovered that my self-doubt about math had been unfounded. It had come from a bad experience, the first math class I took at 15 after being home-schooled my entire life. Not only could I do math, I was excelling at it, and even got a referral to tutor math from my calculus 2 professor.

Things were going well for the first time in a while. I felt I finally had control over my life. I started working out and bulking up. I was highly disciplined and determined to get my numbers up. Determined to put the days of skinny jeans and teenage angst behind me.

The Day Things Changed

Something was not quite right though. I kept falling off my game in the gym. Having stretches where the strength would just go out of me. I thought they were just the common cold, but it was more than a little infuriating, I couldn’t seem to catch a break! I mostly blamed it on my annoying difficulty with sleeping.

Then November came. My girlfriend and I were planning to visit some relatives for Thanksgiving and, after 10 years in higher education, my mom was planning a long anticipated graduation party for me.

It seemed like another one of my “colds” at first. If I was really being honest with myself, they were getting longer and worse and I lacked most of the typical cold symptoms. I was having more and more off weeks at the gym. I didn’t realize at the time, but this one would be different. I told the relatives I wasn’t feeling well, and couldn’t make it for Thanksgiving. I just needed to get some good sleep and I’d be fine.

But then another month of malaise went by.

And another.

By the time Christmas passed, I was beyond distraught. I had never been sick for this long. Rest brought no relief and now my lungs felt like they were inflamed. My semester was over, I graduated with highest honors, but didn’t care. I hadn’t had health insurance in years, and was living with the overwhelming sense that something was deeply wrong with me.

I eventually paid out of pocket and went to a clinic near where I lived. I still remember the doctor. Her name was Dorthy. And Dorthy gravely looked at me and quietly told me about another clinic where I might be able to afford to get labs done. I had no overt signs of infection. But, she could tell something was not right and was concerned. She prescribed me an antibiotic, but it didn’t help.

Then the stomach pain started. Actually, it returned. An old unwelcome guest. I remember years of stomach pain when I was a boy. It had disappeared around the time I started puberty. I had thought I escaped, but it was not to be so.

The weeks continued to roll by without relief. I was not working, the idea of trying to sit through a job interview at this point was ridiculous. So, I applied for medicaid. I certainly qualified given that my only income the previous year was the small amount I earned as a research and teaching assistant.

In February, I finally got medicaid and immediately went to the emergency room at a hospital near the apartment. A CT and lab work showed leukopenia and a pericardial effusion. The doctor said the findings were all nonspecific.

Nonspecific.

A word I would come to hate and fear.

The initial shock was dissipating, and in its place grew a sense of frustration and disbelief. How could I feel so unwell and yet fail to find the help I needed? I wanted to see a gastroenterologist for my stomach, but needed a referral. I struggled to even find a primary care doctor accepting medicaid. And after I did, I faced a three month wait time just for a consultation with a GI doctor.

The wait was agonizing. I spent long hours pouring over my lab results and trying to find matching conditions online. I did not fully realize it at the time, but my analytical brain was betraying me. My life was out of control and I was trying to control it with every part of my being.

The Million Dollar Workup

Summer was approaching and I had no source of income and little savings. I needed to find work and wanted better insurance. My girlfriend helped me to find a job that matched my interests. Or at least the interests I had before the nightmare started.

I’ll never forget how two-faced I felt going to those interviews. My life felt like a cruel joke.

“Where do you see yourself in the next five years, Mr. Smith?”

Hopefully still alive.

Hopefully.

I got the job and better insurance. I immediately found a primary doctor near the apartment, scheduled an appointment, and told him the now growing story of what happened. He scheduled another CT and batteries of more tests.

Another day in the chaos I still remember clearly. I saw an endocrinologist because my testosterone level was far below the normal range. She gave me a very thorough physical examination and seemed genuinely concerned. I wouldn’t know why till the next morning. My doctor called me to tell me the CT found my lungs were filled with groundglass opacities. I needed to do a bronchoscopy to try to determine the cause of the inflammation.

I had to leave work early again the day of the procedure. I just said I had a doctor’s appointment. I had a lot of them. I knew how it must look as a young twenty-something, leaving early for medical appointments every few days. But, I felt I couldn’t be honest with my coworkers. I felt like an impostor. Worse, I felt like an alien. A wounded, sick alien with pain no one else understood. How could I possibly explain that I was sick but no one knew what was wrong? I felt people would call me crazy.

I was a little nervous the day of the procedure. I was also skeptical it would find anything. I thought I had lupus at the time and this might just be a systemic manifestation of it. There would likely be no finding if it were lupus, I thought.

The nurses were preparing me for the procedure, but something wasn’t right. The anesthesiologist said my heart was beating too slowly to sedate me without putting my life in danger. My pulse was 32 bpm.

I wasn’t going for an outpatient procedure. I was going to the hospital. I called out of work the rest of the week.

I had bradycardia and pancytopenia. I had lost all my bulk in the prior 7 months. I looked sick and the doctors were concerned. I had an entire team working on my case. Pulmonology, cardiology, gastroenterology, hematology, rheumatology, among others.

I think I did more lab tests and radiology scans in those several months than some people do in their entire lifetimes. My record stands at 15 vials of blood in a single draw. My doctor called it a million dollar workup, and that likely wasn’t much of an exaggeration.

There were abnormalities in some of the tests. But, the findings were always nonspecific.

Nonspecific.

I finally finished the bronchoscopy, but it only showed nonspecific inflammation. I followed up with a hematologist about my blood counts and ultimately did a bone marrow biopsy. It was also abnormal, hinting at systemic illness, poisoning, or malnourishment, but there was no clear explanation or diagnosis available.

I could tell some of the doctors were starting to suspect I wasn’t telling them something. Like a closet drug addiction or eating disorder. I probably looked the part to boot. It was simultaneously frustrating and depressing.

The workup eventually reached a dead-end. I was put on antidepressants and proton pump inhibitors.

It felt like a band-aid.

A New Start

The sickness did not abate, but the world continued to grind onward. My girlfriend finished her master’s degree and was looking for a job as an industrial or process engineer. She eventually found one out of state and we moved.

I found another job and put on my best poker face at work. I also tried to be more open about things. At my previous job, I had put off opening up to my coworkers about my health, fearing I might sound crazy given the lack of diagnosis. I had perpetually felt diagnosis was just around the corner and that I should wait till I had it before saying anything, lest they misunderstand.

However, I was coming to the realization that diagnosis might not come that fast. Or at all. After work, I would still try to make progress on searching for that elusive name. But, it forever escaped me.

At the new doctor’s office, I went from being an interesting case with a team working on me to being one of “those patients.” The unknowns. The weird cases. Sitting right next to those with psychosomatic illness and across from crazy people. It didn’t help that I was living in a city with rampant mental health issues and drug addiction at the time.

I ran minor experiments on myself, entered the results in spreadsheets, and looked for trends. I studied lectures about medicine on YouTube and learned the different components of the immune system and how it worked. I even had my entire genome sequenced and wrote bioinformatics programs to analyze my genes to look for known disease carrying ones and correlations with others online. I found little that I did not already know.

However, over time my symptoms had become more clear and I understood how the human body worked better. I no longer suspected lupus, but instead was convinced it was some sort of inflammatory disease. I thought it was Crohn’s disease at first, and then Behcet's, and then maybe early ankylosing spondylitis. I had a lot of the peripheral symptoms for all the diseases; they are similar in ways. I brought my case to a few doctors, but they were all reluctant to give any specific diagnosis.

I did the worst thing possible. I switched between doctors trying to find someone who would listen to me. Bringing in notes outlining my case and what I thought was happening. In reality, I should have listened to them, been patient, and looked for the subtle wisdom in their ways.

Life continued going forwards. At this point, I had gone through all the stages of grief. I had somewhat accepted the chronic pain and malaise I lived in. I would occasionally fantasize about finally receiving a diagnosis and treatment, but over the years I gradually lost hope.

Home Again

With my girlfriend and I both working fully remote, we decided to move again. After some insurance changes and a harrowing thousand mile drive in a Uhaul towing our Ford Fiesta over two mountain passes, I was back with my old doctor. He still remembered me! However, at this point, I largely avoided bringing up the years of unexplained illness and tried to focus on new objective symptoms.

One thing I realized at this point was that my old primary care doctor knew me the best. He remembered what happened to me. I could tell he still genuinely cared. It was then that I realized how important continuity of care is. Especially for hard cases. Without context, an average doctor might dismiss such a case as psychosomatic, but my doctor still remembered the hospitalization and decline he witnessed in my health.

He ordered more tests for me and I started taking photos of the lab orders. Trying to get an idea of what he was thinking. The diseases he was looking for all made sense given the old findings. I saw a glimmer of subtle unassuming wisdom I had missed in earlier years. Maybe these people could help me if I’d just stop getting in their way.

Some reorganization left me in a bad situation at work and I found myself needing to change jobs. I still remember that day. I was drawing labs when my director called with a counter-offer. He was desperate to have me stay, but I turned it down. I wanted to try working for a smaller startup company.

I had more confidence in myself again. Nothing like my college years, I had learned my new limits, but I was still miles ahead of the early days of my illness.

While looking at the last labs my doctor ordered that day, I noticed something. It seemed my doctor might have suspected I had rheumatoid arthritis based on the tests he ordered. He had repeated some of them despite them being negative prior. I didn’t have a chance to discuss it with him though, because the new company unfortunately didn’t offer the same type of insurance.

There were some other abnormalities in the most recent tests, mostly leukopenia, inflammatory nodules in the stomach, and a few other things. But, I knew the drill. They were nonspecific. I learned not to hope anymore.

My doctor tried to put out more orders for me, but I couldn’t draw them due to the change in insurance. He recommended following up with another doctor about my blood counts. So, I did.

The labs from the new doctor were abnormal again. I had borderline pancytopenia again. The new doctor was icy, though. I could tell he didn’t want a new difficult patient. As soon as the numbers improved slightly, he pushed me out the door, along with lectures about lifestyle changes. I was used to it at this point, but it still hurt a little inside.

Diagnosis

I didn’t really “research” my health like I used to at this point. I was starting to realize how counterproductive much of my effort had been. However, I understood enough medicine at this point that I could understand bits and pieces of articles on diseases and drugs, and would read them occasionally during idle time.

I was reading about rheumatoid arthritis one day when I stumbled on something. A disease I had never heard of. And not just any type of disease. An inflammatory disease! Psoriatic arthritis. It wasn’t quite a slam dunk, but it matched many of my symptoms, the timelines made sense, and other tests for inflammatory diseases had turned up negative.

I developed psoriasis as a boy. First, on my scalp and then plaque psoriasis on my toes. Later in life I had a few flares of large plaques on my knees and elbows. However, I discovered I was mostly able to control it with diet modifications. I thought it was just another embarrassing and unimportant thing about myself and never really mentioned it.

Specifically, I never told my old primary care doctor that I had it, and they probably didn’t even realize it due to how well I kept it under control. I remembered back to the tests for rheumatoid arthritis he repeated. Psoriatic arthritis was only defined as a separate condition in 1964 and still does not have solid tests for detecting it to this day.

Maybe there was something there.

I had low expectations, but set up an appointment with the new doctor to discuss it. He was going through the motions of the visit, when I mentioned my finding in passing, suggesting maybe previously doctors had missed it because I never brought up my psoriasis.

I still remember the way he paused and looked at me in the midst of furiously typing his notes.

“Oh, yeah! That could be it.”

I was floored. I never expected such a response from a doctor who seemed otherwise indifferent. He put in a referral to rheumatology.

The rheumatologist asked me a series of questions and gave me a thorough physical exam. After almost 7 years of searching, I was diagnosed on the first visit. Psoriatic arthritis.

I was in disbelief. Years prior, a diagnosis seemed to be the only thing I wanted in life. When I finally got it, I mostly felt numb. I even doubted it somewhat at first.

The first drug we tried didn’t work well for me, but the second one did. Sulfasalazine. It was the first drug to actually make a noticeable improvement in my symptoms.

It was encouraging. I finally felt I might be able to turn the page on the darkest chapter of my life. My girlfriend and I bought a house. And after years of illness, job changes, and pandemic to boot, we finally got married.

Still, at times I found myself in disbelief. “Was this really it?” One of the worst aspects of being undiagnosed is that you start to suspect everything. Environmental contaminants, allergies, diet, insidious infections, etc. It was hard to put it all aside.

It wasn’t until about a year after my initial diagnosis that the most characteristic symptoms of the disease began to manifest and the evidence became inescapable. Further, the flares coincided with the malaise and other inflammatory symptoms I struggled with for years. Given our imperfect understanding of the human body, it seemed as good of an explanation as I’d ever get. And given the similarity in treatments, the end result would likely be the same, regardless of which inflammatory disease I was ultimately labeled with.

Some time later, I sensed the startup I was working for was failing and so I found a new remote job at a more stable company. It was a good thing I left, as the startup went bankrupt several months after I left. Fortunately, the new job had my old insurance plan, and so I got to visit my old doctors again. My primary care doctor was initially surprised at the diagnosis, but said it made sense. Before leaving, he looked me in the eye and said, “I’m just glad it was that and not something worse.”

After having learned a lesson, I stuck with my old rheumatologist who still remembered me from my hospitalization several years ago. He seemed a little surprised at first as well, but we’ve been working well together since to try to control the disease.

Epilogue

Looking back, there is still a part of me that refuses to believe I have an autoimmune inflammatory disease, even in the face of strong evidence. How did I go from being the star student with a bright future, to being so sick? It feels like some kind of mix-up. At times it feels like a bad dream that I’ll wake up from. Like I need to reload the game from a better save point.

Looking back can be overwhelming too. The feeling that I was robbed of many of the best years of my life. The missed opportunities. The relationships that fell by the wayside.

If I had to look for a silver lining, I would say that my experience taught me humility and about what is truly valuable in life. In the arrogance of my youth, I had largely assumed chronic illness was due to lifestyle issues. I never thought it would happen to me.

At present, treatments available for autoimmune disease mostly focus on suppressing the immune system, in an attempt to minimize irreversible damage. However, such suppression results in an elevated risk of infection and malignancy and fails to address the root cause. I feel these concerns now most acutely as I try to trade-off the negative effects of living with a chronic inflammatory disease process against the risks and nuisances of drug side effects.

I realize now that diagnosis is not the end but the start of a long journey. There is currently no cure for my illness or most other autoimmune diseases. One can only hope to control the symptoms. And given our imperfect knowledge of our own bodies, that can still be challenging, even with the latest drugs.

If you are reading this and are an unknown and searching like I was years ago, my humble suggestion to you is to try to stick it out with the same doctors to establish continuity of care. Try to be patient and follow their treatment plans, even if you think they will not help you. There is often a subtle wisdom in the processes they follow that can be easy to miss. The surest way to not get to the next step in their process is to give up or change doctors at the current one.

Thank you for reading my story. I wish you health and happiness.