My Road to Diagnosis

In medical school, one of the phrases you most often hear is "When you hear hoofbeats, think horses, not zebras." This means that when a patient comes in, you should anticipate that their diagnosis is the most common condition that presents that way. As a medical student who has been the zebra twice within two months, I want to reflect on the experiences that led to my diagnosis. 

Getting answers to why I was feeling so sick was a very difficult road, but because I kept pushing for answers and advocating for myself it luckily only took about a year. At first, I was very hesitant to talk about my symptoms, because I thought I was just trying to find something to complain about, and I did not want to be that obnoxious medical student who acts like they're a doctor already. 

As the process continued I gained a lot more confidence in myself, stopped waving away my symptoms, and stopped distrusting my body and my mind which were both telling me something was very wrong. I started getting very honest with myself when medications weren't working and would call my PCP's office, my insurance company, and the pharmacy multiple times a day sometimes to try to nudge the process along. I cannot encourage you enough to keep advocating for yourself when you do not feel like you are being heard or getting better. Do not be afraid to stick up for yourself or get a second opinion.

Symptoms I have had for years

We will probably never know if these are linked to my syringomyelia or Chiari I. But in case any of you experience these things as well (whether you have Chiari or a syrinx or not), I wanted to list them here:

• Aphthous ulcers
• Drooling (especially in my sleep)
• Eczema
• Exertional headaches**
• Especially after running or laughing
• Eye floaters
• Increase in frequency with exertion
• Failure to thrive in infancy**
• My dad remembers I used to projectile vomit most of the time he fed me as a baby, we didn't think anything of it until I got my CM-I diagnosis
• Frequent nosebleeds
• Especially in the winter, I can get multiple nosebleeds in a day (still don't have answers to this one but we don't think it's EDS)
• Hyperhidrosis
• Irritable bowel syndrome
• Muscle weakness in hands**
• Tinnitus
• Very cold feet and hands
• Big struggles with attention and hyperactivity (if we had to label it, it's probably ADHD but I'm not in a rush to be diagnosed with anything else right now)

**we're pretty sure these are CM-I or syrinx-related

Symptoms that appeared more recently, starting in Summer 2023

My best guess as to why my symptoms started worsening around this time (though I'll never know) is that my syrinx had finally grown to the point where it became symptomatic. I began having:

• Balance issues
• I started bumping into everything. I bruised myself up so good I started wondering if I had a blood disorder too.
• Head hypersensitivity
• High ponytails, most pillows, or sleeping with a hair tie in my hair was enough to wake up with a huge headache. The arms of some glasses touching my head could even cause headaches.  
• Headaches more days than not- refractory to all medications
• Flares were often accompanied by nausea and extreme sensitivity to light and sound.
• Horizontal nystagmus
• Doctors could not always reproduce it during my exams, but it was included in a few of my visit notes.
• Lower back pain
• I started being unable to stand for as long as I used to because of pain on either side of my spine in my lower back.
• Neck stiffness
• It got to the point where my neck would make a huge cracking sound every time I looked over my shoulder.
• Presyncopal episodes
• Even if I was sitting, I'd have bouts where I had to stay very still or lean on something because I would feel very lightheaded like there wasn't enough oxygen reaching my brain.
• Retro-orbital pain almost daily
• Even when I tried to limit my time in front of screens, my eyes always hurt. The blood vessels in my eyes also started bursting more frequently. 
• Skin changes
• I became very pale and my skin became very fragile. The same skin products I used for years started giving me contact dermatitis.
• Weight loss
• Due to decreased appetite and feeling dizzy so often, I wasn't in the mood to eat anywhere near as much as I used to once I started getting sicker. I lost almost 8% of my body weight in 8 months without realizing it.
  
  

Summer 2023

This was the first time I recognized that something was wrong. I was doing summer research at my alma mater and started getting excruciating frontal headaches. They often happened toward the end of the day and I thought it had to do with spending a lot of time in front of my computer writing grants or straining my eyes using microscopes. I would come home exhausted most nights and when I tried to exercise, my headache would worsen, I would get lightheaded, and I'd start having floaters in my vision, so I started doing less intense and shorter workouts.

Fall 2023

When I started my second year of medical school I noticed I was more fatigued than I used to be, despite eating better, sleeping more, and being less stressed than I had been in years past. The same symptoms still came on when I did what used to be my usual exercises. I started having whole days where my head would ache, so much so that I would have to lay in the dark and try to sleep it off, but nothing made the pain go away. I would get nauseous and have no appetite, and I started using all paper plates and plastic utensils routinely because the sound of ceramic plates on my counter was enough to make my head bang. I could feel myself falling behind in my studies and started wondering what I was doing so wrong that made me feel so awful so often.  

December 2023

I went to my primary care provider (PCP) and told her about the headaches that I was having and how they were starting to adversely impact my life. Wanting to believe the hoofbeats were horses, I assumed maybe I had an iron deficiency, that I needed glasses, or that these were migraines. My CBC came back completely normal and I learned that I was only mildly myopic in my right eye (-0.50). My PCP recommended I start taking Excedrin Migraine and keep a migraine diary to figure out my triggers.

January-March 2024

I was keeping a migraine diary to the best of my ability but got very frustrated when I realized there was no real pattern in my headaches. The first issue was that I had headaches so often it was difficult to know which ones to consider "migraines", and the second issue was that no matter what I tried I couldn't seem to prevent the headaches from coming. I did everything I could think of: 

• Changed my diet a whole bunch (predominantly meat, predominantly vegetables, more caffeine, less caffeine, keeping away from "trigger foods")
• Slept on a routine schedule
• Monitored the weather to see if my headaches had anything to do with barometric pressure changes
• Took no medications to ensure my headaches were not a side effect of something I was on (I stopped taking ibuprofen or Excedrin Migraine for my headaches most times because these hardly offered any relief)
• Did not miss meals
• Did not overexert myself 
• Kept away from bright lights, strong smells, and loud noises
• Never used tobacco
• Tried all sorts of stress management techniques (even though I felt so much less stressed in medical school than I did chasing my med school acceptance in college when I hardly had these symptoms)
  
  

March-July 2024

Once I completed Pre-Clerkship at the end of my second year, I spent some time at home with my family for Dedicated, which is the time when med students are between taking classes and starting their rotations in the hospital. We use Dedicated to study full-time for our first board certification exam: USMLE Step 1. 

My symptoms continued to worsen with time despite getting even more rest and eating even better now that I was back home. My head hurt almost every day and I was not operating at even 50% of what I used to be able to do the year prior. I first intended to take my Step 1 exam on May 6th but had to formally prolong my Dedicated period two consecutive times due to the rapid deterioration of my health.

I struggled with stamina in preparing for the exam because even on days when I was not in front of a computer I had headaches. So since Step 1 is an 8-hour computerized exam testing our ability to apply scientific concepts to clinical scenarios, training to take this exam took me a long, long, LONG time. 

July 16, 2024

I revisited my PCP and told her something needed to change and that I was really feeling the toll that these headaches and fatigue were taking on my body in a severe way. She prescribed me sumatriptan and told me to take it only when I had headaches, but I experienced headaches nearly every day and it is not recommended to take sumatriptan for more than 4 days a month, so I had a feeling this wasn't going to work for me.

July 23, 2024

I scheduled to take my USMLE practice exam on this day (they call it the Free 120 but it is not free (booooo)), but I woke up in so much pain and felt so dizzy I couldn't even look out the window or read, so I rescheduled my exam to July 26th and hoped I'd be feeling okay enough to rally that day.

July 24, 2024

After such a bad day on the 23rd, I went back to my PCP and told her again that I needed to try something else. She put me on amitriptyline daily for migraine prevention and rizatriptan as needed for when my headaches flared up, so I started taking these right away and hoped they would be enough to get me through my test.

July 26, 2024

I finally took my Free 120 exam and got the score report indicating I was on track to pass Step 1. I was so happy that I cried in the car (but then had to stop because it hurt my head).

July 30, 2024

I finally, finally, FINALLY took the real thing, the USMLE Step 1! With all the work it took me to get there, I am sure there has never been someone more excited than me to be at that stupid testing center EVER. I got lucky this day, it was the healthiest I had felt in a while. 

Granted I had to put the screen on dark mode and set it to huge font, alternated pain medications on each section break, and I was in a lot of pain, but I pulled through AND I PASSED!! 

(Hindsight being 20/20, I really should have looked into ADA accommodations before all of this but I don't think it would have been approved in time anyway).

August 1, 2024

I went back to my PCP because I noticed at some point during Dedicated I had started being covered in bruises (we had bigger problems at the previous visits so I hadn't bothered to discuss this one yet). Knowing what we know now, it was because I was running into so many things because my balance was so off, but losing control of my balance had been such a slow progression I didn't even realize until I looked back after my diagnosis. 

August 12, 2024

I rejoined my cohort two rotations late with my Step 1 exam finally completed. I already felt burnt out from hustling so hard to get here, and I felt like my lack of experience compared to my peers was very evident, but I wanted to prove to myself that I could hang in there, so I kept pushing.

August 27, 2024

After a couple weeks of work, I called my PCP because my headaches had worsened so much that along with my fatigue, brain fog, and pain in my neck and back, I felt my underperformance was starting to become noticeable during my rotations. I was especially worried because now my physical health was impacting my grades (and thus my future) even further, seeing as a large portion of rotation grades is feedback from your preceptors, and I knew I wasn't operating at the best version of myself. My PCP told me she would look into other medication options for me, but I felt like we were wasting time I did not have.

August 29-September 4, 2024

I started working inpatient at the hospital and was only feeling worse. I would hide in the bathroom between visiting patients to deep breathe, try not to cry, and message my PCP asking when I could possibly try another medication. I called my PCP and my insurance company and went to my local pharmacy in person daily begging for someone to help me get medicine as quickly as possible. I felt absolutely hopeless for days on end. I could not kick the looming feeling that something was really wrong with me.

September 11, 2024

After weeks of trying to contact every office I could think of, my PCP informed me they were able to get me Nurtec for my headache flares but that they were not yet able to get me Emgality, the next daily preventative medication she wanted me to try, which broke my heart. But I picked up the Nurtec and continued working.

September 13, 2024

The pharmacy finally filled my Emgality prescription and I had a dear friend of mine administer it into my buttcheek (that's how you know who your real friends are and oh my God does that injection sting). The injection still was not enough to affect my headaches, and considering it is such a powerful drug and did not improve my symptoms, my PCP scheduled a brain MRI for the 20th.

Sept 20, 2024

I finally completed my first clerkship rotation! I took my shelf exam with the rest of my class, then got in the car and drove 5+ hours home to get my brain MRI.

Sept 23, 2024- Diagnosis Day 1

This was orientation day for my surgery rotation, which is widely reputed as the hardest rotation to succeed in. In my scrubs just before our ultrasound clinical skills session, I got a text alert that my MRI results were in. I ran to the restroom to quickly peek at my results because I did not think whatever was causing my headaches could be seen so easily. But boy was it easy to see. 

I did not know a whole bunch about Chiari I at the time, but from how my quality of life had declined so steeply and the background knowledge I did have of the disorder, I was pretty sure this meant I needed brain surgery, but I did not know how to face that yet. I took a massive deep breath, went back in there, and did the worst ultrasound scan anyone has probably ever seen, but it was on a fellow student and I feel like I have a pretty okay excuse for seeming distracted.

I walked home from orientation with a couple of my friends and made jokes like I always do but the second I closed my apartment door it was like the mask completely fell off and I was in a soap opera. I was absolutely inconsolable for the rest of the day and cried nonstop because I had no idea what my diagnosis meant for me or my future. 

I called my PCP to discuss the results and I could tell she had not seen something like this before based on her reaction. She asked me "What do you want to do?", which was very overwhelming because I thought she would have more guidance for me. I wanted to know more about my options for surgery so she scheduled me for a visit with a physician assistant back in my hometown in a few weeks. I was not comfortable with sitting on this diagnosis and my rate of deterioration for weeks with no answers. So I started networking and asking around to see if I could meet with a neurosurgeon sooner and with a lot of calls and emails, I had five different neurosurgery appointments scheduled in a matter of days (I ultimately canceled two of them because the first three were sufficient for me).

September 24, 2024

I am a pathological rallier, so against absolutely anyone's advice including my own, I went into the hospital at 3 AM because I volunteered to take the first full surgery on-call shift at the hospital. I was so in denial of my prognosis that I thought if I worked a 29-hour shift I could prove to myself that I didn't need to stop working and that I was really okay (I, obviously, was not really okay). Of the 29 hours, I was sitting/laying for maybe 6 of those. Suturing patients closed, directing a laparoscope, and hustling all over the hospital at all hours suddenly made it extremely evident to me that it was my turn to be on the operating table.

September 25, 2024

The second I was released from my shift at 8 AM I changed out of my nasty OR scrubs and went to Campus Health to ask for help. But through no fault of their own, they don't deal in brain surgery, so there wasn't really anything they could do. 

From there, I walked straight to Academic Affairs, with a very good excuse for not having an appointment, and explained the whole situation. They were incredibly supportive of me and told me I needed to go on leave and take care of myself before something devastating happened (I learned later that I could have paralyzed myself going at the rate I was going).

I got home at about 5 PM, took the deepest sleep of my life, and woke up at 2 AM because my sleep schedule was all messed up from rotations. So I picked up some Cook Out, watched a cheesy movie, and started to pack up my apartment.

September 26, 2024

I threw a bunch of my belongings from my apartment into my car and made the drive back home. I wasn't sure when I'd be back which was evident in what I packed; I did not grab a single winter coat, but my stethoscope made it all the way home (I obviously have not touched it in months).

October 3, 2024

My family and I met with Neurosurgeon A, who was inattentive at best. He told me he thought my symptoms were due to stress or illness anxiety disorder which he attributed to me just being a medical student. He came into the visit quite late and cut my dad off when he was trying to explain my situation or ask questions. It was clear Neurosurgeon A had decided what he thought of my case before he came in to talk to me, I was definitely not a fan and did not go back to see him.

October 4, 2024

After some absolutely phenomenal networking from Dad, we got into contact with the office of Neurosurgeon B, a Chiari specialist and pediatric neurosurgeon who in my (biased) opinion was the best doctor who could have performed my procedure. He was the first doctor I have ever met with who did not make me feel rushed and he ensured that all our questions were answered. He thoroughly reviewed my MRI results with me and informed me that he would not push me into making any decisions, but that I was a good candidate for decompression surgery (which became significantly more evident after getting my spinal MRI results on November 12).

October 7, 2024

One of my friends in medical school's dad actually happens to be a neurosurgeon at a private practice in the city so I met with him (Neurosurgeon C) on this day. He was incredibly kind and let me know that if I were his daughter, he would confidently tell me to get the procedure done given my MRI results and the physical state I was in, which gave me a lot of peace of mind because I felt like I finally received clear affirmation that surgery was the right choice for me. He was also refreshingly honest and informed me that if there were any complications with my case beyond my Chiari I, like a syrinx (surprise!), getting the procedure done at an academic medical center would be an even better fit.

October 8, 2024

I selected Neurosurgeon B and scheduled my decompression surgery for October 22nd, 2024. I then called back a few days later to reschedule for November 13 to give myself plenty of time to think the procedure over and to prepare myself physically and mentally. 

November 11, 2024

I attended my pre-op appointments at the hospital and got my first spine MRI.

November 12, 2024- Diagnosis Day 2

I was diagnosed with syringomyelia with a syrinx predominantly in my T7-T9 region extending up to my cervical spine and down into the lumbar region.

Glossary

Aphthous ulcers (aka canker sores): small, shallow, non-contagious mouth ulcers that make talking and eating painful

CBC (Complete Blood Count): blood test done to measure the number of different types of cells in the blood to detect anomalies (can be used to diagnose things like anemia, clotting disorders, leukemia, or infection)

Contact dermatitis: red, itchy rash that can occur when skin comes into contact with certain chemicals, allergens, or irritants

EDS (Ehler-Danlos syndrome): a group of genetic connective tissue disorders

Failure to thrive: the medical term used to describe infants who struggle to stay within the parameters of standard medical growth charts for weight and height

Frontal headache: a headache that occurs in the forehead or temples and can feel like pressure on both sides of the head

Hyperhidrosis: excessive sweating that disrupts daily activities

Illness anxiety disorder (also known as hypochondria): a condition where someone is worried excessively that they have a serious medical condition, even though there is no medical evidence to support it

Inpatient: overnight care for a patient

Irritable bowel syndrome (IBS): common, chronic digestive condition that leads to bloating, abdominal pain, and bowel habit changes

Laparoscope: a fiber-optic surgical instrument inserted in the abdomen of a patient to examine the organs inside the abdominal cavity

Myopic: near-sighted

Nystagmus: involuntary, rapid, and repetitive eye movements- most often initially tested in a doctor's office using the H-Test and considered an issue if sustained (temporary nystagmus can be a normal finding)

PCP (Primary Care Provider): the medical professional who is your main point of contact for non-emergency health care

Preceptor: experienced doctors who mentor and evaluate our performance as medical students during clerkship rotations

Pre-Clerkship: a term used to describe the first two years of medical school which predominantly consist of lectures, exams, and clinical skills evaluations

Presyncopal episodes: when someone feels like they are going to faint but does not lose consciousness

Refractory: a disease or condition that does not respond to treatment

Retro-orbital pain: pain behind the eyes