I wrote this before my official diagnosis with hEDS and posted it to facebook in March 2018. I’m reposting here as part of my diagnosis journey. My understanding of some things has changed since then. For example, my pain and migraines were MCAS driven and not actually due to fibromyalgia. This is a common misdiagnosis for EDS.
Most of you know I’ve been struggling. I’ve been sharing my food exploits in this space and giving periodic updates/pleas for referrals. I’ve been reluctant to do a more detailed update lately because things have gotten complicated. And as you see, it will take pages to explain it all. But, my friend inspired me this week to be more open. My illness is not a shame I have to carry alone. It has been hard, and I don’t have to keep that to myself. Maybe sharing my journey will help you, if you have been struggling silently. So the short update is that it continues to be rough going but we seem to be very, very slowly narrowing in on what appear to be several overlapping conditions: Mold illness, Fibromyalgia, and Hypermobility Spectrum Disorder (a connective tissue disease). Here’s the long update.
For the decade we lived in Kirkland, we lived in places that had mold problems ranging from moderate to severe. I was very sick with respiratory illness in the first year after moving back from Boston. I had a sort of mini-version of what I’ve been going through more recently. Lots of trips to lots of doctors. I sort of attributed it to mold, but moreso to stress—social/family life, grad school, etc. And, much of it mimicked past issues related to my asthma. What was new was chronic sinus congestion, but I had no detectable bacterial infections. After we moved out of the “mold house” into the condo I improved some, but started getting migraines, fatigue, weird rashes that didn’t respond to steroids or antibiotics. I didn’t connect the dots–I was busy being young and pretending I was a healthy twenty-something. Eventually, I lost much of my sense of smell. I got a bit better after moving to Spokane (very dry climate). For most folks, getting away from the mold is enough. But for some folks with compromised immune systems (me) or those of us who won the genetic lottery (also, maybe, me), that isn’t enough. I started talking to my PCP about subtle dizziness and fatigue 3 years ago (at the urging of a dear friend who has had her own dizzy struggle). As many of you know, my dizziness became acute in 2016. In 2017, I developed vestibular hypofunction and spiraled downward into chronic vestibular migraine, recurrent vertigo, brain fog, intense fatigue/malaise (flu-like, sometimes even with fever) and joint/muscle pain (constant and culminating in acute attacks). Once I started having pain and showing elevated inflammatory markers, my PCP decided we should treat for mold illness. I asked to be tested for autoimmune at that time. I started mold treatment in December. Initially, I got worse (more pain, fever). Then, I had about the best three weeks of the past two years. A few days I even had moments of complete stillness! I got excited! But alas, it was temporary. Symptoms crept back–pain, migraine, sinus congestion, and new things like numbness in my arms and legs, and some GI stuff no one wants to hear about. So, a few weeks ago we started a more aggressive treatment. More supplements, a nasty medication that is no fun to take. And, it is helping some, slowly, but surely. The numbness is mostly gone, GI issues are settling a bit. Unfortunately, the medication works by binding toxins … and it also binds my migraine medication … so I just kind of have to put up with migraines while I detox the mold. I am hopeful this will help and that we won’t have to throw away all our worldly possessions. Some people do because they become so sensitive to any spores lingering in their environment, they have start fresh. But I am also sure there is more going on than “just” the mold illness.
The autoimmune testing led me to a rheumatologist. You may remember my complaining about the wait-time. I liked the rheumy (that’s the lingo, fyi) a lot, at first. He explained three possibilities after reviewing my medical history: a) autoimmune connective tissue disease b) osteoarthritis (not likely) and c) a heritable connective tissue disease, called Ehlers-Danlos Syndrome (EDS), and a co-morbid condition called Mast Cell Activation Syndrome (MCAS). More on those later. I was expecting him to suggest fibromyalgia, but he never mentioned it. He ordered more elaborate blood work. Interestingly, and perhaps because I had already started mold treatment, my inflammatory markers had dropped significantly since the testing in December. I came back positive for two autoantibodies (where the body is attacking itself). One associated with autoimmune connective tissue disease and the other with antiphospholipid syndrome. I should mention all this ruling out happened by voicemail. But I don’t have clinical symptoms of either of those diseases. So, thankfully, we ruled them out. I went for a bone scan earlier this week and that ruled out osteoarthritis. So, true to form, I got a short voicemail from his office telling me I have fibromyalgia and chronic pain and to talk to my PCP if I had any additional questions. No mention of Ehlers Danlos or MCAS. At first I was angry. I believe fibromyalgia is real, but I felt like he was giving me the brush off because the evaluation for EDS is not widely understood and MCAS is complicated. After a few days sitting with it and reading about it, I think fibromyalgia is an accurate diagnosis of my symptoms, but it doesn’t tell us anything about their cause. That said, I’m comfortable enough with it to add it to my growing list of diagnoses. FM basically means I have pain everywhere (true), that the pain is located in my brain (something I suspected), that my brain is hypersensitive to stimuli (also true), and that I fatigue easily (fo sho). Though there was zero effort at patient education on the part of the diagnosing physician, I have found some great resources for FM patients online that I think will be helpful to me (happy to post links upon request). Much of what is recommended, I am already doing, I just need to be doing it more slowly (really).
Hypermobility Spectrum Disorder/Ehlers Danlos Syndrome & MCAS
This was the most exciting part of the meeting with the rheumatologist and subsequently the most disappointing part. If you are like I was, you’ve probably never heard of EDS. EDS is a connective tissue disease that stems from a genetic defect that makes the collagen in your body too stretchy. One way that can manifest is through extra bendy joints that are prone to dislocation (sound familiar, anyone?!). Though a fair number of folks with EDS don’t have hypermobile joints, joint bendiness is just the most visible symptom of overly stretchy collagen. Some people with EDS have super stretchy skin (but I don’t). Because collagen is the most common protein in your body, EDS can affect just about every system. It can lead to GI problems, problems with hernias and pelvic prolapse, varicose veins at a young age, skin healing problems, unexplained stretch marks, and in very rare cases it can lead to heart problems.
Joint hypermobility is not just a cool party trick, it can lead to micro-tears that lead to wide spread pain and early joint stiffening. EDS is rarely diagnosed, but many people think it is probably fairly common and that many people with fibromyalgia actually have undiagnosed EDS (I learned this from the wonderful EDS communities online not from this doctor). There are many types of EDS, but the most common is the hypermobility type. Recently they added a new diagnostic category called Hypermobility Spectrum Disorder that is just slightly less severe than EDS. I suspect that is where I fit. EDS/HSD was/is so exciting to me because it ties together almost my entire medical history. I’m approaching 40 and I have a VERY thick medical record with a bunch of stuff I thought was totally disconnected. But EDS (and MCAS) might actually explain almost all of it.I was born with my right foot turned in (actually a diagnostic sign in some types of EDS). I have rolled/twisted/sprained my ankle easily a dozen or more times. I have had flat feet since age 9. I have subluxed my right knee three times. After my last subluxation the orthopedist I saw commented that my knees hyperextend (also a diagnostic sign). My wrists were never the same after writing my dissertation (common enough, but likely exacerbated by my wrist hypermobility). My fingers are funky “double jointed” and get locked up while knitting or playing the guitar. I have double vision (which can be caused by the eye ligaments being too stretchy) and extreme near sightedness. Up until about 5 years ago, I could put my hands flat on the floor without bending my knees and easily reach well past the ends of my feet (super helpful when you are immobilized after a knee dislocation). A yoga instructor once nick-named me Gumby, I was so flexible. My brother has hypermobility in his shoulder/elbows, and my Dad has localized hypermobility in his toes. Both have had trouble with weird migraines and my dad has had some trouble with dizziness though not as severe as mine.
Now let me say a little about MCAS. I understand this part less well than I do EDS. But my understanding is that MCAS can occur when your immune system is on a hair trigger. It produces symptoms similar to a true allergy, but unlike allergies it isn’t always triggered by the same thing. For example, I have an allergy to cats. When ever I am around cats, I have an allergic reaction to them. With MCAS people can have an allergic reaction to something one day, and not be triggered by it the next. MCAS might explain the random fevers I’ve been having, the unexplained hives, food sensitivities, medication sensitivity, and the weird granuloma annulare I had a few years ago. AND, there is even some very limited research that shows folks with MCAS are susceptible to chronic biotoxin illness (mold, Lyme, etc). People who have MCAS sometimes produce too much tryptase which can cause migraines and flu-like malaise. I am lucky that I have never had a full-on anaphylactic reaction to anything (yet). But, for example, I remember once reacting badly to a latex glove and then not really ever again (though I avoid them). My dad also has a history of really weird allergies (some true allergies, and others that seemed to appear out of the blue and never again). He has had some reactions more on the anaphylactic side of things … weed-wacking circa 1997, Dad?! The challenge is that both EDS/HSD and MCAS are hard to objectively diagnose and there is no set/simple treatment. MCAS is particularly tricky because the reaction is so random, unless you test at the exact right moment, you may not catch it. There are some invasive tests they can do (bone marrow biopsy). But many are reluctant to go that route unless their symptoms are severe. After calling the medical assistant for my rheumatologist and asking why he settled on fibromyalgia and seems to have dropped EDS & MCAS, the medical assistant called back and offered to test for serum tryptase (as though she were doing me some kind of favor). She said this is the “test for the condition you spoke with the doctor about.” After that, I decided they are fired. If she can’t even say Ehlers-Danlos, or remember what my question was about, we are done. There is no “test” for EDS/HSD. There are semi-subjective criteria, which I meet, though the doctor wouldn’t know because he never went through the established diagnostic criteria with me. And apparently, I am only able to talk by phone message with his MA. Though EDS/HSD is genetic, they don’t know which genes cause the hypermobility type. There is no “single” test for any of it. I think what happened is that the doc diagnosed fibro because he is out of his depth with EDS and there is nothing he can do to treat it. Obviously, he was aware enough to suggest it as a diagnosis (since it fits so many of my symptoms) but he is not qualified to diagnosis and doesn’t want to admit it. So, I don’t have a diagnosis of EDS or MCAS. I’m not sure I ever will. But I am in a better place now than I was a year ago in that I have a really good clue about what to do to start treating my symptoms. Here are some things I’ve learned in getting this far:
- Doctors don’t know a quarter as much as they seem like they do. They are generally VERY caring people who want to help you get better. But when they can’t, they feel helpless and are likely to blame you for your illness–especially if you fit the 3Fs: Fat, Female, and Forty. Though fibromyalgia is a real condition with objectively measurable features, I also suspect it is the new “hysteria.” If you are a woman in pain and they can’t figure out what is wrong with you you get dumped in that bucket. Luckily they know enough about chronic pain from researching fibromyalgia, the diagnosis may actually help us start to manage pain better.
- Nobody understands chronic pain, who hasn’t had it. I don’t say this to chastise anyone around me. I have had wonderful support from my partner, friends, family, and co-workers. Most people are sympathetic. But they don’t really get it. I rarely go for sociobiological explanations, but I think there is likely some evolutionary explanation for that thing in us that prevents us from seeing as “real,” invisible illnesses. We wince at images of compound fractures on TV. We say, “Oh my! What happened?!” when we meet a friend on crutches. But we can’t see pain when it isn’t accompanied by some visible wound. This extends well beyond chronic pain to emotional pain and trauma. And in fact, there is a strong correlation between chronic pain, fibromyalgia, migraine and trauma histories. But we are not prisoners of our biology, we have the miraculous gift of growing beyond it. We need to do better first at empathizing with those in pain, and then making room for pain in daily life. I can tell you, that is my biggest struggle. My life, as it is structured, just doesn’t have ROOM for the practicalities of dealing with pain. And that makes the pain worse. Coping with pain would be so much easier if my life could flex around it to accommodate its unpredictability.
- I have been in pain most of my life. It was just normal to me. So, I didn’t realize how bad it has been. My partner and I have talked a lot lately about the differences in our physical abilities over the 20+ years we have known one another. Though we are both fat, she has always had more strength and energy than me. I used to think the difference was my asthma. Now we have new lenses to look at that through. Admitting to myself how much pain I have ALWAYS been in, even since childhood, has been important. I have to recognize it to be able to imagine how to live differently. I have achieved a lot in my life. I have always been “goal oriented,” as my parents used to say. And I have achieved everything in my life while pushing myself, teeth literally gritted, through that pain. I say that NOT because I am proud of that, but because it is something I am being forced to unlearn. I thought I was pretty good at pacing myself–I’m good at resting. But I have a lot more to learn!
- “Sometimes you have fleas and ticks”-something a friend passed on from one of her providers. Sometimes we get multiple shitty things. When I step back from my list of diagnoses, it is overwhelming: Asthma, Allergies, Migraine, Recurrent Vertigo, Fibromyalgia, Chronic Mold Illness, Joint hypermobility… more TBD?! On the other hand, the title of the bible on MCAS “Never Bet Against Occam” also resonates. The argument Dr. Afrin makes in his book is that Occam’s dictum, that the simple answer is the most likely to be correct, applies to those of us with lots of random illnesses in this way: What’s simpler, that a person has five or six completely different diseases or that they have five or six different symptoms of the same underlying disease? The quest I’m on is identifying that underlying cause. But I don’t have to wait for a diagnosis to start working on the symptoms. And, taking an educated guess that HSD/MCAS are the root of my problem is not dangerous as the treatment is basically doing all the things I’m already doing (but being even more careful about my joints/stabilization, and going very, very slowly). And, I can be glad to know all the things I am now sure I don’t have: MS, a brain tumor, diabetes, high blood pressure, chiari malformation, acoustic neuroma, autoimmune disease, osteoarthritis, or bone cancer. Praise goddess for that!
- Now, I am very medically literate. I have a terminal degree in my field. I’m affluent. I have a flexible job and a great support system. So, I am not going to just drop this. But I am heart broken for all the people who are in pain, and who would be confused and scared at every step of the way or who would be permanently demoralized by the automatons calling and leaving life-altering diagnoses on voicemail without any patient education or proposed treatment. This system HAS to change. This should not be the standard of care in this country or any other. It doesn’t even meet the basic definition of the word “care.” If you are like me, and you have all this medical privilege, PLEASE hold your providers accountable on behalf of those who had to save money for a year to see a doctor only to be drop-kicked back to their PCP. I will be writing the practice manager at my rheumatologist’s office to let them know they are fired and why.
- If you are in pain, no matter what type, I see you.