We grow up thinking that the world is black and white. You’re sick? Go to the doctor, and they’ll help you feel better. It’s an easy fix. Unfortunately, as we grow, we realize that it’s not entirely that simple. Doctors can’t always help. People die of cancer and other illnesses. At least doctors can identify the problem, though, right? That’s what they went to school for, after all.
I, like many others, used to believe that illnesses could be diagnosed and hopefully treated, even when there wasn’t a cure. After all, I was diagnosed with Marfan Syndrome at a young age- I was always aware I couldn’t be cured, but I knew that there was certain precautions I had to take when playing and certain medications that would help my heart stay safe. Naturally, I assumed that was how other illnesses worked, too. Even if there wasn’t anything that could be done about them, I thought doctors had a name for and knowledge of everything.
Unfortunately, I was wrong. I learned that illness isn’t black and white, because now I reside partially in the gray area. A few years ago, I was sent to see a hematologist because of problems with excessive bleeding. These problems weren’t new, but they were persistent. My family and I had never made much of them; sure, they were annoying, but we were used to them. It was a resident in the ER that referred me to hematology after a particularly bad nosebleed. Flash forward a few years. I’ve been “diagnosed” with an undiagnosed platelet disorder. Countless tests have been run; new ones and old ones repeated several times. The results are always borderline or low-normal. I’m being treated for a platelet disorder, with infusions before surgeries and emergency medication to stop bleeding, but no one has been able to identify what the problem with my platelets is, exactly. Last year, I read a journal about something called delta storage pool deficiency that seemed to occur within a subset of POTS (Postural Orthostatic Tachycardia Syndrome) patients. I have POTS, and reading through it, I identified with almost all the symptoms. I had newfound hope that I might finally have a diagnosis, because I hadn’t been tested for delta storage pool deficiency, due to its uncommon nature and the level of specialization of the test. It took forever to figure out the logistics of insurance covering the blood work, because the only hospital that analyzes it in the region is a few states over. Finally, my doctor figured out the mess with insurance and I was able to get the blood work a month ago. I only got the results 2 days ago… they were normal. I had put so much hope for answers into that one little tube of blood, and again I’m left with nothing. Just to be clear, I don’t want somethingto be wrong with me. But my doctors and I know there is. We want a name for it, so we know for sure if and how it can be treated. And if it can’t, at least I have comfort in knowing what’s responsible for my body malfunctioning. It sounds silly, but I’ll have something to blame when things go wrong. There’s much more despair and hopelessness in not knowing than what one would expect.
The bigger problem is, being undiagnosed isn’t just one piece of the puzzle that is my life. It’s several pieces. I’ve been bounced around from specialist to specialist for years, but even more so this year. Instead of leaving with answers, I leave with more questions and a referral to yet another doctor. Most recently, my pediatrician referred me to allergy/immunology because we suspected mast cell activation disorder. I had many of the symptoms, and my chronic migraines were responding to an antihistamine. During my appointment, the doctor asked if I’d had frequent pneumonia. Yes, I have. In fact, practically every fall/winter I go through a vicious cycle: sinus infection, bronchitis, pneumonia. I see a pulmonologist, but she wasn’t able to figure out why this kept happening or how to help it go away. After I explained this to him, he said he wanted to run some tests checking my pneumonia antibodies and other things, not just a mast cell activation disorder workup. I agreed, because I was already getting my blood drawn and thought, better safe than sorry. Well, the results come in. Normal for MCAD, normal immunoglobulin and histamine levels, but incredibly low levels of pneumonia antibodies. The doctor ordered the pneumonia vaccine to see if my body responds and builds those missing antibodies and blood work to check them six weeks after the vaccine. He also referred me to a colleague who does immunology and rheumatology, since I hadn’t seen that specialty before and he thought it would be helpful. The new doctor was incredibly kind and honest; in his words, I’m “very interesting and complicated,” which will be the title of my autobiography, at this rate. He said that even though he could diagnose me with MCAD without positive blood work, he didn’t want to, because I have symptoms that are similar, but don’t fit exactly into that category (or any specific allergy category) and he didn’t want them overlooked. I appreciated how candid he was, and the fact that he shared my views about being bounced around to new specialists time and time again. By this point, I’ve seen almost every major department in my hospital. Despite that fact, I still wasn’t expecting him to suggest I go to the undiagnosed disorders clinic at the National Institute of Health. It definitely caught me by surprise, but I understand his reasoning and am glad he’s not sending me to yet another department at the hospital (with the exception of dermatology, solely for a biopsy of the rashes that we initially thought were related to MCAD). He still wants to me to follow up with him, and ordered blood work to test for autoimmune disorders (Sjögren’s syndrome is the main one we suspect) in addition to running the pneumonia antibody panel again. I just got those done last week.
Here I go again, putting my faith in tiny test tubes. I often wonder how something so small can hold so much power, and affect my life so drastically. It’s been about 4 years now that I’ve resided partially in this gray area, and I wonder if that will ever change. Four years of blood work several times a year. Of being passed on to someone who might know more, time and time again, because I’m “complicated”. Dozens of apologies from doctors who just can’t figure me out, and multiple new questions and symptoms/side effects for every one answer and treatment plan I’m presented with. My body may be my home, but that doesn’t mean it’s easy to live in.
The Marfan Muggle 