Backstory

   Well, here I am, joining the blogging community, at a time that I've been waiting for, quite literally, my entire life. I realized earlier today, that I've kept what I've been going through to myself, my family, and a very few close friends. I'm not ashamed of my condition, nor did I purposely hide it from everyone; it's just hard to explain, especially when I'm not in a constant state of affect, and when I'm not in a full blown episode, I like to forget about it and pretend that I'm normal.
    Here's the deal, what's wrong with me - I have a genetic condition called Hereditary Angioedema. I've had it since the day I was born, thank you to an awesome roll of the genetic dice. Luckily for me, I was able to be diagnosed via a simple blood test, whereas my poor mother (who also has the condition, cue the hereditary part) went through years of absolute HELL to reach her diagnosis.
   Hereditary Angioedema (HAE for short) is super rare, occurring only once in every 10,000 to 50,000 people. For those of you science/biochemical freaks like me who want to know how it works on a molecular level, here goes (for those of you not in that category, stay with us, I'll give you the "not-so-science friendly" version in a few lines) - the class of HAE that I have, type 1, causes a defect in my genes that controls the production of the protein C1-Inhibitor (INH) in the liver. C1-INH's role in the body is to regulate the biochemical interactions in blood based systems, in the way of inflammatory response. Defective or inadequate levels of C1-INH, not performing its regulatory role, results in the production of unwanted peptides that induce the capillaries to release fluids into surrounding tissue, and subsequently causing all kinds of edema in any body locale including hands, feet, abdomen, lady parts, throat and face.
   *Not-so-science friendly version* - I don't produce the inhibitor that keeps the protein that controls the body's ability to swell in check; so, I'm prone to swelling - and by swelling I don't just mean the puffiness you get along with a black eye, I'm talking the kind of swelling that causes your skin to split open.
   So, I swell. Doesn't sound so terrible, right? I'm gonna go ahead and say no, wrong answer. Basically, there is no single, exclusive trigger, nor is there any specific body location that the swelling is "assigned" to. My personal triggers for an episode are stress, trauma, lack of sleep, emotional roller coasters, and the random "because my body just f****n felt like it"; the most common locations of my swelling are my hands, usually because they experience the most "trauma" - I use quotes because something as seemingly harmless as hitting a few golf balls at a driving range will cause my hands to do their thing and blow up on me.
   A few years ago, every couple of months I was making a trip to my favorite home away from home, Club Fletch's ER. The trigger there, (which I was able to see and accept years later after being removed from the situation) was my ever lovely and INSANELY stressful relationship with Scott. I will not use this space to bad-talk him or our relationship, other than to say, those were the most stressful years of my life and I have medical proof of it. Anywho, I'd go in to the ER after a few hours of vomiting thanks to intestinal swelling (my Mom has said that the intestinal pain associated with an abdominal episode is worse than labor pain - so kids will be a breeze, right?); subsequently, I was unable to keep anything down and was walking the fine line of consciousness versus blacking out due to dehydration. After seeing one to five medical students, a resident and an attending who all, I'm sure, were just basking in the medical rarity that is my life, I'd demand my two bags of saline, and a dose (sometimes two if it was a real doozey) of Zofran (IV anti nausea amazingness for any of you non-medical personnel). Then, I'd go home and sleep off my absolute exhaustion for two days and start all over. Rinse and repeat. 
 
   I'm sure that a lot of you are thinking something along the lines of, "well, isn't there anything that you can do, some medication you can take?" Until very recently, I had limited options available to me. At age 17, the summer before I went to college I started a daily regimen of anabolic steroids. These steroids are supposed to help, but I call bullshit. The specific 'roids I was put on, are often prescribed to patients who have undergone surgery and are subject to weight loss, and thus need to gain weight. I do NOT need help in that category, and having been on these steroids for the past 6 years straight. A few months ago, I tried to ween myself off of them, thinking I somehow miraculously would be able to just not need them anymore, and was horrifically unsuccessful.
   At this point, I should interject and give some serious credit and thanks to my boyfriend, Luke, for bearing with me thus far in the process. Let me tell you, trying to remove daily steroid use, will make a bitch crazy. PMS doesn't have anything on the mood swings and emotion rush involved with removing a daily dose of testosterone in a female body. Although I'm sure it would've been easier (and seemed the more reasonable and sane option at times) to run for the hills and away from me, Luke has stuck by me, been my rock through it all, and I love him even more for it. I assure you all, I was an absolute nightmare, ranging from crazy psycho, to a heaping ball of crying mess when I came to the harsh realization that if I can't remove the steroids from my daily life, then I'm not going to be able to have babies.
   Ah yes, babies. I'm 24 years old, so naturally my uterus is starting to give me the "I'm here for a specific reason" vibes, and although I'm in enough control to not just give it a fetus to house for 9 months, it is something that is on my radar. In my case, it's even more difficult and something I actually have to plan, because anabolic steroids + fetus = unfortunate outcomes; not to even mention the list of side effects that steroid use has a on a female body...which we need not get into.
   So, I set out on a mission to find a new treatment plan for myself. After some research, and reaching out to my patient advocate at the Hereditary Angioedema Association, I had a new plan to present to my physician - one that I wouldn't take no for an answer on.
   The new treatment I was after, is called Cinryze. Cinryze is purified human C1-INH esterase - EXACTLY WHAT I'M MISSING!! My doctor was/is completely on board with this plan of action, and immediately signed off on every piece of paperwork that was sent his way in the past month - and there have been MANY.
 
   There you have it - that's my story, one that I've kept to myself for a very long time and am finally ready to share. I appreciate all of the thoughts and prayers and kind words you all have already sent my way; you create an amazing support system that I have come to rely on more than I realized. I intend to use this blog to keep everyone updated on my progress with my new treatment, and hopefully new "outlook" on my future. In my next post, I'll give a deeper look into the upcoming Cinrzye treatment I'm about to embark upon.

   ~Somewhere between always and forever, Chelsea Leigh