The Beginning of My Journey to a Rare Disease Diagnosis

Sometime during the summer of 2010, I started feeling lightheaded when I would stand up. I told my doctor that when I stood up, I felt like all the blood in my body rushed to my head and I heard a “whooshing” in my ears and felt like I was going to pass out. I was getting migraines for the first time in my life and had extreme fatigue. My doctor gave me a prescription for an MRI along with a referral to a neurologist.

I scheduled my MRI for an evening so I wouldn’t miss work. I was working full-time as an attorney and my three children were all under the age of 5 years old. When I checked in for the MRI, the technician told me that because of the late hour she couldn’t give me a CD of the results. But when the test was done she did give me a CD, which should have been my first clue that something was wrong.

By the time I got home, my phone was ringing. It was the physician on-call for my primary care practice, whom I did not know. I remember her saying “the MRI showed that there is a mass in your brain.” Whoah. A brain tumor. I did not know what to say or what to think. The doctor continued to explain that the mass was probably not cancer. Which was somewhat of a relief. But then she said I had to go right away to an emergency room. Not just any emergency room, but an ER with a neurosurgeon on call during the evenings. My anxiety went back up through the roof. But I didn’t ask many questions. I just said OK, I’ll get my husband to take me to the ER.

I was in such shock during this call that I let my husband walk right out the door. It was the evening of the first NFL game of the season, and we ordered a pizza to eat while watching. He would be back in 20 minutes.

My first thoughts were of work. If I might be headed into brain surgery that evening, I wouldn’t be at work the next day. I called my best friend from work, Pat, and relayed to her what the doctor had told me. I wanted to be sure that she told my bosses what happened in case I wasn’t able to talk to them the next day. Pat asked how my parents were handling the news. I told her my parents were at their shore house (about two hours away) and that I didn’t want to bother them. Pat convinced me I had to call my parents and I agreed, imagining being wheeled into surgery that night without having told my parents that anything was wrong.

I don’t remember the call to my parents. They immediately packed up and started on the road home. They would meet me at the hospital.

After these calls, all I had to do was wait for my husband to come back. I couldn’t help myself from sneaking upstairs to take a look at my children who were all fast asleep. Would I be there to see them grow up? The word “probably” echoed in my head. The tumor was “probably” not cancer. “Probably” wasn’t good enough. But it was all I had. If it wasn’t cancer, I wouldn’t die, and this wasn’t a big deal at all, right?

My husband finally arrived and I told him the news. He immediately went into protector mode, intent on his job of getting me to the ER. My mother-in-law came over. We hugged and I cried for the first time since I heard the news. We didn’t put our concerns into words, but we were both thinking about my children growing up without a mother.

They were expecting me at the ER and we were shown to a room right away. Now there was nothing to do but wait for a neurosurgeon to look at my MRI pictures. I couldn’t just sit there, so I downloaded Scrabble on my phone my husband and I started to play. The nurse was great, and I told him I was expecting my parents to arrive; that they were anxious to know that I was going to be OK. I remember he said “I don’t blame them.” That struck me as odd. It “probably” wasn’t cancer. I wasn’t going to die, so what was there to worry about?

I can’t remember how long we waited, but by the time we were joined by a physician’s assistant from neurosurgery, my parents had arrived. They hugged me and I could tell that they weren’t thinking about my children, they were worried about me. The PA informed us that a neurosurgeon had looked at my films and concluded the mass “almost certainly” was not cancer. I would have a 10-12 hour surgery and be back to myself. The neurosurgeon thought the presence of the tumor in my brain explained my symptoms and that I would feel better after surgery.

I had more questions than the PA could answer. She offered to admit me to the hospital for the night so the physicians would see me at their rounds the next morning. My husband didn’t think I should stay, but I couldn’t pass up the chance to talk to a few neurosurgeons. If I didn’t stay for rounds, it might be days until I got to see a neurosurgeon in his or her office. I needed more reassurance now.

My family left and I remember being wheeled around the hospital. I looked up at the ceiling as we drove by the sign that said “Stroke Unit” and I started to cry again. I didn’t belong here. I was 33 years old. I had babies, including a baby who was still nursing once every night. The nurse in the stroke unit borrowed a breast pump for me from maternity, and I tried to pump but my body didn’t cooperate. I was too strung out. The nurse offered get the chaplain for me, but I declined.  It “almost certainly” wasn’t cancer, so what right did I have to be upset?

Somehow, I fell asleep. My husband joined me around 7 a.m. and we saw three or four neurosurgeons as they made their rounds. They gave me the good news that it might be possible for me to avoid surgery by having radiation. I would have to go to one of the big city hospitals and see what the specialists there recommended. But these doctors reassured me that my symptoms would resolve after I was treated.

I finally went home, nursed my baby, hugged my other children and exhaled. In the next week I would see specialists at the two big city hospitals near me and decide on a 26-session course of fractionated stereotactic radiation therapy. The tumor was killed, but my symptoms didn’t resolve. I would spend the next seven years in denial about how sick I was. I thought that if the tumor was dead I didn’t have any reason to be sick and, therefore, wasn’t “really” sick.

It would be seven more years before I heard the words “postural orthostatic tachycardia syndrome.” And two more years before I was formally diagnosed and given a treatment plan.