Here is the current update of the swelling disease/disorder that I have.
Since the end of 2010, I have had unexplained swelling. At the time, I was on Remicade for my Crohn's, I had an allergic reaction to the Flu shot (because it was cultured in Gentimycin), and I was having drastic swelling episodes. In December I was told to avoid eating much of anything (and to stick close to the ER) over the holidays until I could see an Allergist in the new year. So, in 2011 I saw an Allergist (no common food allergies), I was removed off of Remicade, placed on continuous anti-histamines, and then also saw an Internal Medicine Specialist.
At that point, Remicade was obviously a suspect, but they also did bloodwork for C1-Esterase Inhibitor Deficiency, which came back normal at the time.
Once removed off of Remicade, the outward swelling improved, but did not go away entirely.
In 2012, a whole ton of medical complications happened, including the emergence of the Ankylosing Spondylitis, and my inability to work. For much of 2011 and 2012, then until 2017, I began having these insane cyclic vomiting fits, once a month coinciding with my menstrual cycle. I would suddenly start vomiting - and then you could set a clock to it. It would be every 20 minutes for HOURS. The longest was 10 hours straight, the shortest was 6 hours.
With my history and everything I have already dealt with, I rarely sought emergency medical services during these puking fits. I mean, really, it was just vomiting for a few hours and then it would settle down. Often, by hour 4, I would *think* about going in and I would make a mental plan to go in if it lasted another 4. I figured it was simply my body's way of handling my period (which, it was, but was also something more). I had categorized these episodes as just part of my regular life - so it took until 2014 to be 'flagged' as a serious symptom that should not be occurring.
That year, I saw an Internal Medicine specialist at an Urgent Assessment Clinic - he got the ball rolling on several fronts. I was seen by a Dermatologist, another Internist, an Internist/Hematologist, and finally a Hematologist. At that time I was losing weight constantly (my thyroid was incredibly overactive and we didn't know), I was experiencing tremors, I was using a cane/walker constantly (and then a wheelchair for a few years), continued having the vomiting fits, AND having swelling episodes. So I was always losing weight but then swelling everywhere - internally and externally, and had multiple reactions to medications.
Once I saw the Hematologists, the general consensus was that I had Hereditary Angioedema - a genetic defect that caused swelling in my tissues. The initial thought was HAE III - which is often associated with female hormone cycles, and still a C1-Esterase Inhibitor Deficiency. Bloodwork came back variable - sometimes it was really abnormal, sometimes it was within normal limits. My body, again, was confusing.
With the episodes being so clearly linked to my menstrual cycle, I was placed on Lupron - which prevented me from having my period monthly. My vomiting fits were reduced, but always returned, accompanied by breakthrough bleeding. I was also still experiencing outer swelling, internal throat/chest swelling, and bladder swelling, with various triggers (some predictable, some not).
In 2017, I had a full Hysterectomy & Bilateral Oophorectomy. It is now 2023 and I have not had a 6-10 hour vomiting fit since the removal of those organs (which were removed for other reasons as well).
The body-swelling, however, continued, relentlessly. My Hematologist tried me on a few different medications, and then eventually placed me on prophylactic C1-Esterase Inhibitor plasma.
This was phenomenal. I have said before that it was a miracle drug for me. The body-swelling reduced significantly - to the point where I hadn't even realized how much swelling I was experiencing every single day. Parts of my body that I had dismissed as general fat or a product of other medications were suddenly not puffy! I still had episodes where I needed further IV treatment, but it changed SO many aspects of my life. So the agreement was some form of HAE.
Last year, we finally got access to genetic testing to confirm a diagnosis officially. She had originally thought HAE III, but then her thinking shifted to HAE I or II instead. This genetic testing checks for some of the mutations associated with type I or II - so that bloodwork was ordered.
It came back negative.
She had always felt like my symptoms were a bit atypical for HAE, so she wasn't all that surprised. (My body's symptoms have always been a little atypical for everything - it's a weird one and doesn't like to fit into a neat little textbook-defined box). The variable bloodwork, the frequency and type of swelling, and the obvious beneficial response to the C1-Esterase Inhibitor plasma were confounding.
Due to all of this, she wanted to try taking me off of prophylaxis in the fall of 2022.
My body-swelling has been volatile. My body doesn't feel like mine. I am perpetually swollen, feeling like I live in a fat-suit, my clothing doesn't fit properly, and I have zero control over it. Some days I can go from a relatively flat stomach to looking 6 months pregnant within 3 hours, or I can put on a bra in the morning and, very literally, bursting out of it only an hour later. It is incredibly frustrating.
She wants to start from scratch - she is concerned that HAE might not be the correct diagnosis and wants to try and figure out exactly what this is. She is not ruling out HAE III, but she wants to investigate to see if there is a different immunological condition or Complement System malfunction that better explains how my body behaves. It is obvious that the plasma helps, and she wants to find out exactly why it helps. It *could* be that my C1-INH isn't functioning properly, but it could also be the anti-inflammatory properties in the plasma, or some kind of rare allergy that could be settled by that medication. Either way - for some reason, my blood vessels are leaking water into my tissues - all the time.
And none of us are truly confident that we know why.
So we start investigating again.
We may come to the conclusion that it is HAE III and that the plasma really is the best medication for it, and if that's the case she'll put me right back on it. If we come to a different conclusion, however, then there may be an even more effective treatment!
Tomorrow I see a new Internist to discuss possible options and tests - trying to discover what kind of immune system malfunction my body inherently exhibits.
Did my immune system simply not develop properly? Is the communication within my body so inhibited that none of my systems will ever function well? Is there a hiccup within my Complement System that is creating all of these issues? Do I have a genetic mutation for HAE that cannot currently be tested? Or do I have some rare or yet-to-be discovered disease that has caused my immune system to attack various organs and mimic all these different diseases?
Who knows?!
Stay tuned!
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