From EURORDIS, the people who brought you World Rare Disease Day, a custom rare disease search engine, to filter out all the irrelevant crap and take you straight to what you’re looking for!
Rare Disease Info & Resource Database! How cool is that!!
Today marks the beginning of this year’s Eosinophil Awareness Week. On that note, here’s an Eosinophil!
These guys, called Eos for short, are one of 6 types of white blood cells. They’re normally transparent, but appear red after staining with Eosin, a red dye. They develop in the bone marrow, before moving into the blood stream and exist to combat parasites and (along with mastocytes and basophils) respond to allergens. When activated they degranulate (explode) releasing histamine and other chemical mediators.
For a normal person, 1-6% of your white blood cell count, should be composed of eos. They can also be found in the medulla, lower GI tract, ovary, uterus, spleen and lymph nodes. If more than 6% of your white blood cell count is made up of eos (and you aren’t hosting any parasites) and/or eos are found (via biopsy) in your lungs, esophagus, skin, or other organs, you have an eosinophilic disorder.
The presence of excess eosinophiles where they don’t belong is a sign of an overactive immune system that perceives a threat where there is none. In the absence of parasites, the eos attack environmental and dietary triggers. When they degranulate, the released mediators cause inflammation. With Eosinophilic Esophagitis, for example, that inflammation can create difficulty swallowing or even cause food to get stuck (impacted), requiring an endoscopy for removal and sometimes staples to patch the damage caused by the impaction.
For many, it becomes so severe they can only safely eat a handful of foods and others can only tolerate a pre-digested, amino acid formula because they react to all whole proteins.
In order to raise awareness about this rare, immune-mediated disorder, I created some eosinophil merchandise. I hope a few of you will buy something so I can get one too! (You have to reach a minimum number in order for them to be produced)
English: Click here to see all options!
As a young child, I was super active. I’ve dealt with asthma and allergies since before I could remember so it was never a big deal, nor did it ever hold me back. But sometime during my early teenage years, things changed. In middle school I ran cross country, in high school I was on the swim team, and in college I did taekwondo — all of which I remember being such a struggle. When my mom picked me up from school, she’d ask how I was and the answer was always “tired.” When she got on to me because my grades weren’t as good as they used to be, I tried telling her I felt like I had been smarter when I was younger, that I used to be able to think more clearly, but that something had changed. Back then, we had no idea I suffered from chronic fatigue and brain fog and, since it wasn’t yet bad enough to derail my life, we wrote it off to me being a teenager.
That was also around the time I started choking on my food. I did my best to hide it, because other people were usually more freaked out about it than I was, and found little tricks to get it to pass. I’d be sitting at the table, when suddenly there’d be this lump in my throat, my gag reflex would kick in and try to push it back up, and eyes watering, I’d run off to the toilet, hoping no one would follow. I was also frequently afflicted by headaches, anxiety, acid reflux, bloating and constipation. But again, it was all so much a part of life, I never gave it any thought.
Then, in 2013, I experienced my first impaction – when food gets so firmly lodged in your oesophagus that it has to be endoscopically removed. I was eating and conversing when suddenly something got stuck on the way down. I was never worried in the past, because I knew I could find a way to dislodge it. But this time it wasn’t budging.
I’d have 90 minutes of peace, aside from the obvious discomfort caused by a lump of food in my chest, until the saliva slowly collecting above it finally reached the top of my oesophagus and started to block my airway. Then I’d start choking and heaving it up, but it was just saliva and once things had calmed down, the impaction was still there.
After 4 hours and before heading home alone, I opted to stop by the ER and was told to wait another 8 hours until the doctor came in the next morning to remove it, because other than the obvious pain I was in every hour and a half, I appeared to be fine. After the procedure, I spent the next few days in the hospital and when I commented on how I was the only patient under 80 in the entire wing, I was told I just needed to “chew more carefully”, as if I had done something stupid.
It wasn’t until the follow-up, 6 weeks later that I was told, “No, that shouldn’t be able to happen. Normally, if it can pass your throat, it can go all the way down. The reason it got stuck is because you have eosinophilic oesophagitis (EoE).” She said it as though I should have known, but I was never sat down and told “this is your diagnosis” nor was I ever given any information on how to treat it other than “take this medication.”
It wasn’t until my second year of college that I went to the doctor to find out what was wrong. She had some bloodwork done, but everything came back normal and that was the end of it. A couple years later, I was living abroad with a host family who noted how I was always sleeping. So I went to the doctor, he ordered the same run of the mill bloodwork and again, when nothing appeared out of place, we left it at that. It wasn’t until another couple years later, when I repeated the same process with yet another doctor, that I realized something must be wrong.
I’d been so consumed by fatigue and brain fog that, in the past, I’d just let it go and gone home. But now I wanted answers. “I’m always tired, I feel like I can’t think, and I can’t stand the cold – at just 15°C my toes go numb and by 5°C I can’t take it anymore. Clearly, something is wrong! So what is it?” We ran a few more tests, but when nothing came up and I still insisted on figuring out what was wrong, I was accused of wasting an entire 15 minutes of his precious time and rudely shown the door!
I then found a much nicer doctor who referred me to several specialists. But the results were always the same: everything was fine.
Meanwhile, in April, I landed myself in the ER with another impaction. That time I was pissed off at myself for “letting” it happen. “Great! I finally reached the point where I can enjoy a sip of wine, beer, or milk again without incurring horrible chest pains throughout the night and now it’s back to square one!” That time it was worse, too. I woke up during the removal procedure and groggily attempted to move. They held me down, while I proceeded to cough up blood onto a new, white shirt before being sedated again. I was told afterward what a mess my oesophagus was and that they’d had to use staples.
I spent most of May, visiting friends and family, but there was a very noticeable difference from the last trip I had made 18 months earlier. Instead of cruising all over town trying to see everyone, I made it known that I was there and anyone was welcome to come by and say “hi”, while remaining voluntarily cooped up with my Gran serenely listening to old 33s. I had wanted to go on a road trip to New York, but I could tell I wasn’t up for so much exertion. So I settled for a shorter trip, with my high school friend, to visit old college friends instead. There I tried spending the evening out, but I couldn’t wait to get back and just -be-.
By late July, after months of waiting for an appointment, I got in to see my neurologist. I’d been having such severe pain in my wrist that I’d wear a splint so tight it cut off the circulation and the splint itself, which was meant to last 6 months, was completely worn out within 6 weeks. The last time I’d seen her, she’d prescribed antidepressants for my fatigue, despite saying that I clearly didn’t appear to be depressed. I then told her that the fatigue had gotten so bad I could barely manage the 5 minute walk to her practice. I was being forced to push myself as hard as I could, but it was never enough. Luckily, she wrote me off sick, but what I didn’t realize at the time was that she had written “depression” as the reason. I tried for months to get her to correct the diagnosis, but she refused. By this point, I stayed in bed all day unless absolutely necessary and, even then, it was such a struggle to get up. I remember one day sitting on the edge of the bed for 30 minutes until I could bring myself to stand.
Remembering I was supposed to have another endoscopy, since the last follow-up scope in May hadn’t shown any improvement, I made an appointment for September. This only served to show that the damage still hadn’t healed, but it was then that it finally dawned on me that I already had the answer I’d spent the entire year searching for – the root of all my problems lay in my gut!
It’d been 2 years since my EoE diagnosis by then, but I had never really put much thought into it because none of my doctors had ever made that big a deal of it. Just a few weeks later, I was diagnosed with Fructose Malabsorption (FrucMal) and Histamine Intolerance (HIT). This time I did get a booklet, explaining how both diseases work, what my new diagnosed life would be like, and containing lists of what was safe and what was to be avoided and why. I asked the doctor if there was anything else we could test for and he said, if there was anything else wrong that I didn’t want to know about it because my life was already going to be difficult enough, restricted as it was. I cross referenced my safe lists to create a very short safe-safe list, but was still having problems. I kept cutting foods out, hoping to isolate the problem, but never got more than temporary relief. Still, I was certain that I was just on the verge of figuring it out and going back to a normal life.
Early 2016, my doctor suggested another endoscopy. Afterward, I was happy to hear my oesophagus had finally healed, meaning my restricted diet had done what nothing else could. But because she hadn’t seen anything amiss, she also hadn’t taken any biopsies. Since EoE can’t always be seen, biopsies are very important and without them the whole procedure was ultimately for naught.
Over the course of the past few years, I’ve seen numerous specialist who’ve run every test imaginable, yet the only significant anomaly (according to them) is that I did have EoE that’s now in remission. When told I didn’t tolerate what the last doctor had prescribed, I was either asked why I even bothered coming to see them or handed another prescription or three and sent on my way.
None of them suggested elimination, even though wheat, dairy, eggs, legumes, and seafood are the most common EoE triggers and many can achieve remission just by removing one or more from their diet. None of them recognize that the pain in my wrist or intolerance to cold, let alone severe chronic fatigue are related and, since they can’t find any other explanation, clearly I must be depressed or a hypochondriac!
But just because you don’t have the answer, doesn’t mean the problem doesn’t exist! And depression is a serious illness, deserving of more consideration than to be treated as a mere fall-back diagnosis.
When I shared my story with the EoE/EGID community, the resounding response was “that’s my story.” How is it then that so many of us suffer from these same symptoms, yet because medicine can’t yet explain them, they must all be in each of our heads? Far too many people have endured the same struggle I have and there are more and more people being diagnosed every day!
Not only is there a desperate need for wide-spread education about eosinophilic disorders, there’s also a severe lack of empathy in the medical profession for anyone suffering from chronic fatigue. How can we, who struggle just to get out of bed each day, be expected to arrive at a doctor’s appointment capable of explaining ourselves in the rushed time-frame we’re allowed and with so much disinterest from those we trust to care for us?
The expectations placed on medical professionals are far beyond those of any normal person. I’m truly in awe of all that they manage to accomplish. But clearly it’s not working. Far too many people are not receiving the care they deserve.
The Uninvisible project aims to put a face to invisible illness in order to show that we are real people and not just dry statistics and that, even though we appear to be fine on the outside, we’re fighting a never-ending battle. Since one major challenge encountered by sufferers of invisible illnesses, in addition to the illness itself, is a lack of support from our communities, my hope is that awareness will lead to better understanding.
My plan is to share awareness-raising stories and scientific developments, as well as my own struggle with an over-active immune system. Since my own experience centers around rare disease, particularly eosinophilic and mast cell disorders and myaelgic encephalomitis (chronic fatigue syndrome), that are not well understood by most medical practitioners, I’ll also be detailing treatments I’ve tried and how they worked for me, in case that knowledge can be of use to anyone.