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A Friend Led Me to a Life-Saving Diagnosis: Here’s Why That’s a Problem

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I met him in June 2014 when I did a summer acting program in New York City. He was a staff member at the school and the one assigned to audition me for the two year program. A year and a half later, when my symptoms were finally under control enough to begin the program, we met again after orientation. I had been completely upfront with the school from the beginning about my health, because I knew I would need accommodations and had problems getting them in the past. The school hadn’t had a student with my illnesses before, so it was a first for everyone. After speaking with student services I was asked to speak with the Director of Education, who ended up being the same person who had auditioned me a year and a half before.

Over the course of my first year in college, we talked a lot. He quickly became a mentor and extremely supportive of my struggle to manage my illnesses. At first, our conversations were the typical “maybe you’re not trying hard enough, I think you should try these super obvious things like juice cleanses and yoga.” But over time he became much more understanding. Not wanting to be seen as difficult, I’d try most of the suggestions, after triple checking to make sure it wouldn’t make things worse. I knew if he was going to believe that I had really tried everything I could, he would need to see these things fail for himself. Plus I appreciated the fact that he was actually taking the time to do the research and educate himself on my illnesses. No one had ever done that before, so I figured I could at least hear what he had to say.

As the year went on my health became significantly worse. I had a brief break in symptoms over the summer after trying a new treatment, but by the time classes were starting up again I could no longer afford it. On the first day of classes during my second year, I had back to back cluster headaches and a hemiplegic migraine. I panicked. I told him I was worried about how my health was going to affect my education and wasn’t sure how much more I could take with my health declining as rapidly as it was. A few days later he asked me if I had ever heard of Hughes syndrome (also known as antiphospholipid syndrome or APS) and suggested that I get tested for it. I had an appointment scheduled with a new primary care physician in a few weeks and tried to hold out till then.

During that appointment I asked my doctor to be tested for APS, along with Lyme and Von Willebrand disease. She said they were all unnecessary, so I asked if we could just test the APS. She had to Google what is was and told me it was impossible, and I need to stop looking for problems. I kept pushing until finally she agreed to test me. A week later I got my results. I had a low positive. I was in complete shock. I was so used to tests coming back negative that I couldn’t believe one actually came back positive.

I asked to be tested again in 12 weeks and the doctor told me it wasn’t necessary and that the results didn’t mean anything. I told her that APS is supposed to be retested six weeks after a positive result to confirm the diagnosis. She tested it, but refused to let me see the results, told me to stop looking for things to be wrong with me and fired me as a patient. So when I went back to Washington to visit my family for the holidays I had my naturopath there retest me again. It was still positive.

After seven long years I finally had a diagnosis. I had antiphospholipid syndrome. APS is a rare autoimmune disease that attacks the proteins in the blood causing it to clot too quickly, leading to life-threatening consequences. And since blood is pumped through every organ and system in the body, it can affect every organ and system in the body. For me, most of my symptoms are neurological. In fact, APS is known to not just cause migraines, but hemiplegic migraines specifically.

My naturopath was just about as happy as I was with the results. I started seeing her during my first year being sick, so she was glad we finally had an answer and that we had caught it before it was too late. APS has been referred to as the “silent killer” because you can seem totally fine, then develop a blood clot that leads to a stroke, heart attack, DVT, or pulmonary embolism. In fact, most people I have talked to since being diagnosed with the disease have already survived blood clotting events and are worried they might not survive the next.

Now I want to be clear, I am so unbelievably grateful for what my friend did. I will never be able to find the words to accurately describe how much this means to me. I spent years of my life searching for answers and am heavily involved in the chronic illness community, and I had never heard of APS before, so I know it took a lot to find it. But what upsets me about the entire situation is he shouldn’t have had to find it.

On average an autoimmune disease patient sees about four doctors over two and a half to three years before receiving a diagnosis. And a rare disease patient sees about eight doctors, four primary and four specialists, over a four year period before receiving a diagnosis. And in both cases patients are often misdiagnosed before getting the correct diagnosis. I had seen six primary doctors and over 30 physicians in multiple states over a seven year period before being diagnosed, and I am so lucky that I didn’t have a serious clotting event during that time.

Out of the 14 diagnosis I have received, seven came from other patients, were self-diagnosed before being confirmed or something I heard about from a friend. Most of my treatments were ones I looked up or were suggested from someone outside the medical community. And there have been multiple times a treatment has made me worse and it ended up being another patient who explained to me that what my doctor prescribed was not something I could take because of my illness.

Med students are taught “when you hear hoofbeats think horses not zebras,” meaning don’t assume the patient’s symptoms are caused by a rare disease, because it’s most likely something more common. But what if they did believe it was rare? Could it lead to more patients receiving the correct diagnosis faster? One in 10 people have a rare disease, so zebras are much more common than most people may think.

I’ve spent years of my life being dismissed by people who ended up being wrong. I’d go to appointment after appointment with piles of research and ask if they could just look over it, only to be told to stop searching for things to be wrong with me, labeled as a difficult patient and told that a diagnosis wouldn’t change their course of treatment. I think they tend to forget that health insurance companies won’t cover certain treatments without a proper diagnosis.

I don’t know if it’s from a lack of education, lack of research or if simply no one gives a shit, but something needs to change. Too many people are being left undiagnosed for way too long and are having to fight like hell just to get anywhere.

I find it hard to believe that out of 36 healthcare providers I had seen, not one thought of starting to test me for autoimmune diseases other than lupus. Or for rare diseases at all. We should be able to trust the medical community with our lives, not have to rely on ourselves and others. And in return, doctors need to not dismiss things we bring up ourselves, or like in my case, things our friends find for us.

Getty image by cosmaa

Originally published: May 4, 2020
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