February 28, 2018 is Rare Disease Day. I haven’t found many blogs about HAE that discuss abdominal attacks, so I decided to take a stab at it and share my HAE story. I’ll also share more information about HAE in Part II!
My idea of the concept of pain changed dramatically one day when I was nineteen years old. Prior to that moment, the pain I knew consisted of the lung searing, muscle burning pain of competitive college swimming or the self-inflicted pain of running a 5k. Sure, I’d had some fractures as a teenager, sprained ankles, low back pain, the usual orthopedic stuff. I’d also had some chronic health annoyances as a teenager and young adult that (decades later) would later be chalked up to Epstein Barr virus, Lyme Disease, and MCAS, but those types of ailments were different from ACUTE pain.
When I experienced my first HAE abdominal attack at age 19, I entered a new somber world from which a part of me disappeared overnight. As I was driving home from a summer job in Alaska teaching swimming lessons, I experienced an intense pain in my abdomen that wasn’t cramping, and wasn’t quite nausea – it was hard to explain. I pulled the car over and found that if I doubled over and brought my knees up, it was less intense. Within minutes my abdomen ballooned out to twice it’s normal size and the pain continued to increase, until a few hours later, it was unbearable. I debated going to the emergency room.
It wasn’t a pain I could point to, nor was it on one side, but was more of a widespread pain that was sharp at the same time. I assumed I had some sort of weird food poisoning, although nothing was happening in my intestines – it was more of an issue of intense swelling around them. I spent the next day in bed in the fetal position, and quickly learned that even a sip of water increased the pain; I was completely unable to eat either. My intestines were essentially paralyzed with the swelling and it took a number of days for them to move again. Fortunately, the severe pain and swelling passed in a few days’ time, and as a dramatic teenager, I distinctly remember thinking “if I have to experience that pain again, I will die.”
Over the years to come, those attacks would haunt me periodically, at first every few months, and then once a month or twice a month, and they began to last longer and longer, sometimes for up to 5-7 days long for over 50% of my days per month. The “episodes” as I began to call them left me delirious, severely dehydrated, and extremely frustrated. I could not find any rhyme or reason to them. Typically, I would simply wake up between the hours of 3 and 7am and they would be there. Triggers seemed to vary greatly. Stress and lack of sleep and drops in barometric pressure most certainly made them worse. I tried to tough them out at home because I was inevitably worried about money and not wanting to go to the Emergency Room.
By my logic, if they were a chronic thing that came and went, then they couldn’t be that serious, right? And a regular GI specialist should be able to figure them out, right? Plus, the emergency room experiences didn’t offer me much besides a narcotic pain medication that never even touched my pain, a blatant avoidance of a solution and no explanation for what I was experiencing. With each attack, the passage of time (usually several days), strict immobilization and fasting from food / beverages and medications was the only way to get though. I would eventually get mentally confused from not eating and sometimes the dehydration sent me into shock.
I endured many a college swimming practices, backpacking trips, trail runs, road trips, airplane rides, international travel and normal everyday stretches curled up in the fetal position, and sometimes vomiting uncontrollably from the pain. I remember days where trips and plans would be completely derailed. I remember being carried home from the dining hall in college by one of my teammates. I recall my first (and only) trip to the Tetons, doubled over in pain and vomiting on a beautiful trail, and later gasping through pain in the tent while everyone was around the campfire. I recall being doubled over in pain in various parts of Peru the year I lived there. I endured several road trips of the Alcan highway in an attack-induced state of what felt like hanging on for dear life. I prayed I wouldn’t have an attack on a test day or race day. I tried to track triggers with no luck at all. I tried every type of eating plan plausible, with no relief. I felt that the problem wasn’t intestinal, but rather something outside of my intestines, but no doctor seemed to see how that would be possible with my “normal” tests coming back.
I hopped from specialist to specialist, across 8 different states and a few new countries (I moved a lot between college, grad school and beyond!) without any answers. Despite several endoscopies, colonoscopies, CT’s, MRI’s, small bowel follow-throughs, ultrasounds, HIDA scans, and other types of imaging, I had no answers. I eventually had un-necessary surgery for interstitial cystitis and endometriosis (neither of which I truly had).
I was called a hypochrondiac by too many medical professionals to mention and was referred to get psychiatric help by doctors and friends alike. One colleague suggested to my face, in front of other colleagues and students I was teaching, that my pain must be “bad gas.” Through all of this, I grew more and more despaired as I struggled in “survival mode” without any idea what was causing this problem. I became very anxious and depressed, especially in long stretches where attacks would not let up. I tried to put on a happy face to outsiders because I had no clinical validation of what I was experiencing, no name for it, no explanation that was socially accepted for such intense and long-standing pain.
On top of these attacks, I grew increasingly sick in other ways, though the other symptoms were minor compared to the attacks. In my late twenties I picked up parasites while living abroad and eventually developed gastroparesis and constant GI issues. I was constantly sick with sinus infections, pneumonia, a ruptured eardrum, strep throat, the flu, bronchitis, etc. I was in the hospital for a weird meningitis-like infection, and had a cauda equina scare another time. I had multiple sclerosis investigated. I had serious cervical spine issues, vertigo, visual and auditory disturbances, autistic-like moments, severe fatigue, liver problems, migraines, sensory stimulation problems, severe allergic reactions, food intolerances, severe intolerance to chemicals and odors and moldy buildings, peripheral neuropathy, gallbladder issues, thyroid issues, POTS, adrenal fatigue, celiac disease, a worsening of the Raynaud’s I’d had since birth, and much more.
As I entered my thirties, a few things began to happen. One, I began to notice more swelling in other areas that seemed to coincide with my abdominal episodes. Occasionally my eyes would swell shut, my face would be swollen, my groin would swell, and I also had the rare episode in my hands and feet. However, the majority of my attacks were predominantly abdominal, so I never mentioned the other areas to my doctor.
I was experiencing a great deal of hoarseness and throat symptoms at the same time, but of course I didn’t put two and two together and was instead referred to a speech therapist for “vocal cord dysfunction” which brought me no relief. I also mistakenly thought that my throat attacks were being caused by anaphylaxis, even though they didn’t usually respond to the classic meds for that. (I did have true anaphylaxis to predictable triggers like bee stings and tree nuts, but I also experienced a distinctly different type of throat issue that was more slow-progressing when it would come on that sometimes coincided with my abdominal attacks).
Unbeknownst to me, I was also experiencing brain swells that came and went along with extracellular fluid leaks and intracranial pressure issues that presented with intense headaches, neck pain, and all sorts of neurological symptoms.
I was mis-diagnosed with Rheumatoid Arthritis for one stretch, and then with Crohn’s Disease the following year. Eventually, second opinion doctors would disprove those explanations for what I was going through, only to throw their hands up and say “I don’t know” and send me on my way again. This became a pattern I grew to expect.
In my thirties, the attacks were becoming closer and closer together and sometimes I would go through several-month stretches where I had some level of an abdominal attack each day, sort of on a sliding spectrum. It took everything I had to get through the work day as a physical therapist. I began to wear baggier clothing because I often looked 5-9 months pregnant during attacks. I could barely stand up or walk when they were occurring. I had previously been a runner and had been able to train on days when I was attack-free, but after I turned 32, my running was pretty limited. I began to experience less and less “good days” that were attack free. I got to the point where any less than 9 hours of sleep would trigger emergency room level pain for days on end (which is not a good combo when you already have insomnia). I would often get through an attack, have a day or two where I could eat normally and move again, and then get hit hard with another one.
Finally, I had no choice but to leave my career. I was missing too much work from attacks from this “invisible mystery illness” and when I was there, the pain made it difficult to be present with my patients and coworkers. I was devastated but simultaneously relieved all at once. I had a plan B, a seasonal small business with a friend that I hoped would be enough to keep me afloat. I could set my own schedule and do lots of the business aspects from home. But even that became too much, as it was difficult to guide clients on paddleboards when I was experiencing attacks. I only lasted two seasons in my dream job as a small business owner before I had to give that up too.
At that point I was running out of savings and was at a low point of despair. I had been trying to hide and minimize my attacks from my boyfriend (and everyone else) because I had no “legit” diagnosis to explain them, but I hit rock bottom and basically became home-bound and began to confide in certain people about what I was going though. At that point I thought I had ruled out all the major GI stuff and assumed it was something more systemic. Doctors had no answers and told me to just keep taking laxatives and probiotics.
Yet somehow inside I knew that I had something more serious going on than a little irritable bowel syndrome. At age 33 I moved to Washington to be closer to my boyfriend and stumbled upon a functional medicine doctor who would change my life. She didn’t figure out what was causing my attacks, but she did suggest that I may have histamine intolerance issues, which led me to more research and an eventual diagnosis of Mast Cell Activation Syndrome, which led me to start writing a book on the poorly-known condition, which led me to a patient forum that talked about abdominal angioedema and third spacing, which led me to a webpage about hereditary angioedema (HAE).
My jaw dropped as, finally, 16 years after my attacks began, I found something that described exactly what I had been going through. I was cautiously optimistic about HAE being the explanation, but had also tried to self-diagnose for almost two decades, so I didn’t want to get my hopes up. I convinced a doctor to test me for HAE and low and behold, my C4 levels were low! I went on to see a specialist and was eventually diagnosed with HAE at age 34. Immediately I had access to an online group of patients who I could relate to, and shortly thereafter a (limited) access to a self-injectable medication that could treat one attack per month for the mere cost of 36,0000 a pop!
Unfortunately, there’s no “cure” for HAE and there are only a handful of medications that can help to prevent or treat attacks, each with an expensive price tag, limited efficacy and limited insurance coverage. Triggers vary widely among patients and the exact mechanisms are poorly understood. (Welcome to the world of rare disease).
I learned that my abdominal attacks were, as I suspected, not “intestinal” but rather the experience of interstitial fluid moving outside of the tissues where it does not belong, which can lead to serious abdominal organ consequences.
I learned that my “vocal cord issues” were actually throat swells in disguise. I learned that I am one of the lucky patients who did not end up as a statistic. (1 in 3 patients with undiagnosed HAE end up dying from asphyxiation). I learned that the abdominal pain I had been putting up with all those years was often confused as acute appendicitis; another study found that women could not distinguish it from labor pains. I learned that most patients with HAE are in the emergency room for their abdominal attacks, and that plasma sometimes helps treat them, since plasma contains the enzymes that patients with HAE lack.
The road did not immediately get easier, however, as within a few months of my diagnosis, winter arrived and I began to experience near-daily attacks again, noting an average of 27 days per month of attacks from November through February. My parents took me in and I started seeing a naturopath to address some of my chronic issues.
I am hopeful that addressing my chronic co-morbidities will eliminate or reduce my HAE attack triggers. (Am I just so unlucky that I happen to have 16+ different clinical diagnoses on top of HAE?!) I’m on month 4 of IV treatments for things like MCAS, chronic Epstein-Barr and Lyme Disease, and I’ve had a definite breakthrough in chronic issues recently, so things are definitely looking up!
However, the chronic issues pale in comparison to the disability that HAE attacks bring. I want so desperately to have them under control so that I can return to work. Even on good days, there’s a voice reminding myself that a number of days/hours ago I was asking God to take my life because of the severe pain of abdominal attacks back to back, so I tiptoe on the edge of optimism.
One of the greatest difficulties I’ve faced through my HAE attacks has been the way that they change my personality. I feel like a serious, somber person most of the time. Just like stress, good emotions like excitement trigger attacks, so I feel like I have to stay stoic. (One time, I was thinking about a running race I wanted to do and the excitement of visualizing it triggered an attack that lasted 4 days). I feel like a shell of the free-spirited person I once was. I feel like, on most days, I am literally in “survival mode” and that’s all I know. The physical pain and lifestyle limitations make it hard on some days to empathize with my peers when they are upset about trivial things, but I try to silence that voice; I don’t want to judge others.
One of the greatest lessons I’ve learned is that God is ultimately in control and that I do better when I just surrender it all to Him. I tried for so long to figure out what was causing this, and how to treat it, and how to prevent it, and how to eat differently and remove any and all toxins; at the end of the day, it’s important to address those things to a certain extent, but I needed to accept that it’s out of my hands. Instead of asking “why me” or “why am I having more attacks?!” I try to focus on being joyful in the moment no matter what the circumstances, no matter what my day brings, all while aware of the fact that my life is not how I envisioned it would be.
For a while, I focused on what I’ve LOST: tons of time and money, several careers, and I’ve lost just about my entire life’s possessions. I’ve lost my “baby” of a small business that I saw come to fruition in a short number of years. I’ve lost my ability to travel abroad, to be social, to leave the house, and on some days to have a conversation or eat or drink or walk. I used to be a very social person but now I avoid committing to too much, because I’m home-bound with attacks so often.
I’ve lost my ability to be gainfully employed (at least, for now) and to follow artistic passions like photography the way I want to. I’ve lost my ability to lead PT students down in Peru, a passion project that began when I lived there in 2010, and with it, the chance to spend time with my Peruvian “family.” I’ve lost my ability to be involved regularly with youth organizations and swim coaching. I’ve lost my ability to train and compete as an athlete, something that brought me great intrinsic joy. I’ve lost my ability to jump in the swimming pool and swim some laps on a whim. On many days, I’ve lost my ability to get out in nature, but I still take advantage of less painful days to do what I can. I’ve had to let go of certain dreams for my future career and am guarded about others, like my ability to become a parent or to walk down the aisle at my wedding without being sidelined and having to cancel it due to an abdominal attack (because I’ll be excited).
While I’ve lost several careers, I try to think of them as changes in direction instead of pure losses. If those changes hadn’t happened, I wouldn’t have gone for other passions that I enjoy. The easiest “losses” have been of material things- I’ve always liked simplifying life in that way and clearing the clutter. (I had to get rid of everything due to mold that was making me sick. I now own about 2 pairs of each type of clothing… which has been liberating for me).
How can I adequately (and concisely) sum up my past 16 years of suffering in a way that makes sense to others who don’t know this pain? It’s a daunting task, and most people don’t want to hear the whole story; when they ask how I am, they want the sugar-coated version, and not the truth. I’ve had many friends who simply change the subject or try to distract the conversation from getting too real, which I find fascinating.
Fortunately, I’ve been extremely blessed with a wonderful family and boyfriend and group of friends who have never doubted me or questioned me. After 16 years of pushing through the mystery attacks, let’s face it – I’ve become an expert at putting on a happy face in public. Yet at the same time, as attacks are now more frequent I’ve stopped caring about most things, and consider it a good day when I’ve showered, dried my hair, AND put on my eyebrows. (Leaving the house is an extra bonus).
One thing that HAE forces me to do is to slow down. I used to try and stay busy to distract myself from the pain, or (on non-attack days) to provide myself with a different type of pain that I could be in “control” of like running up and down mountains. But now I have few days where I’m attack-free and able to enjoy some exercise-induced pain. I’m doing my best to let go of control, and to simultaneously keep some hope alive.
I hope that at the end of this, I’ll come out with a much better understanding of life, appreciation for and presence in the moment, and a bigger sense of humor. My faith continues to grow and I don’t know what I’d do without Jesus. I can also attest that this experience is already helping me to meet some new wonderful people in the HAE & MCAS patient communities.
My ultimate goal is to look upward and outward no matter what, and to focus on others every single day, the ultimate challenge when regularly experiencing emergency room pain without anything that eases it. I remind myself that at the end of the day, what matters most are the people and I’m so grateful for the relationships in my life. To all of those people out there who have supported me and continue to support me – I can’t thank you enough. I hope that you still see glimmers of my true self amidst the pain.
I’m approaching 16 years of living with these attacks and I can’t help but wonder how life would have been different if I’d been properly diagnosed when they started. (But then again, there’s the silver lining: I also realize that there are many incredible life experiences that I pushed through that I would not have been able to experience, had I had a name for what was going on).
It appears that many patients with abdominal HAE attacks are mis-diagnosed / living un-diagnosed for an average of 8.5 years (according to a 2016 study). I hope that spreading awareness about this aspect of the disease can help capture those patients out there with mystery abdominal episodes caused by underlying & undiagnosed HAE.
Stay tuned for part II: HAE and MCAS: Part Two – How Are They Connected?
Henao, Maria Paula, Jennifer L. Kraschnewski, Theodore Kelbel, and Timothy J. Craig. “Diagnosis and screening of patients with hereditary angioedema in primary care.” Therapeutics and clinical risk management 12 (2016): 701.
Bork, Konrad, Petra Staubach, Alexander J. Eckardt, and Jochen Hardt. “Symptoms, course, and complications of abdominal attacks in hereditary angioedema due to C1 inhibitor deficiency.” The American journal of gastroenterology 101, no. 3 (2006): 619.
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