My HAE Journey

I started having symptoms in the fall of 1995, when I was 20 years old and in college at Mankato State University. At first it was in my hands and feet, so I thought maybe it was frostbite. And then I had a horrible cold for months (which really turned out to be mono, but whatever), and noticed that I had a reaction whenever I had cold medicine. And I was having a lot of cold medicine. I went through the entire winter with swollen hands and feet – sometimes to the point where I couldn’t walk to class. In the spring, I had swelling in my butt (trust me, you can tell!), and continued to have hand and feet swelling.

Because I was away from home and my regular doctor, he diagnosed me over the phone has having allergy issues, and prescribed Zyrtec, which was all sorts of new and cool at the time. It didn’t do much for me, and made me really tired, so I stopped taking it, and resolved to figure out what I was allergic to.

The hands and feet kept swelling for a few years, but not terribly frequently. When I was 22 and had health insurance through my Grown Up Job, I went to see an allergist. She said that she’d never heard of anything like what I had, and put me through a ton of tests. Because of a lab typo, she left me a message at my work that I had cancer. Yep, on my voicemail. Turns out the person who typed the lab report had left out an important 0 on one of the numbers, and she didn’t know enough to realize it was a mistake until she called an oncologist.

Needless to say, I was less than pleased with this particular doctor, and stopped seeing her. She did prescribe me Allegra, which seemed to help a little, so I figured I had done what I could.

In 1999 and 2000 the swellings moved to my face. I’d wake up with an eye swollen shut, or my tongue swollen to the point where I couldn’t talk, or my lip looking like I’d had a tragic accident with a collagen needle. A couple of times it felt like my throat was swelling up. Still working under the assumption that I had allergies, I went to see a new allergist. He was kind and patient, but also missed the point. He kept me on the Allegra, and introduced Zantac (Allegra is an H-1 histamine inhibitor, Zantac is an H-2 inhibitor). He also started me on a five day prednisone therapy to stop the cycle.

I had the prednisone cycles several times – most notably during my first wedding so I wouldn’t walk down the aisle looking like I’d been beaten. I didn’t have any swelling, but prednisone – especially high doses – makes you feel like complete crap.

Oh, and it didn’t help.

In October, 2003, I was hospitalized for throat sweeling. And not only my throat but my tongue and lips were swollen to the point where I couldn’t talk, eat, drink, and I was having issues breathing. (Did you know that you start to throw up when you can’t breathe? Me neither!)

By this time I had transferred my care to another allergist, who very frankly told me that he didn’t know “what the hell was wrong” with me. He suggested that I get a non-local second opinion (as he was the head of the allergy department at our local medical school, and was afraid that the doctors he had trained would tend to think like him), and arranged for me to meet with a doctor in Chicago at the Northwestern Univresity Medical School.

The doc there told me I had idiopathic anaphylaxis (medical for “your throat swells, damned if we know why“), like it was an actual disease. He’d even written a paper on it. The solution was to put me on massive amounts of steroids (prednisone, 50 mg every other day) and see if that would “reset” my immune system so that I would stop swelling.

Have I mentioned that prednisone is ungodly awful? You can’t sleep – your mind doesn’t ever shut off enough to let you sleep. You must eat – constantly. You are beyond irritable – everything PISSES YOU OFF. So, I turned into a bitchy, starving, sleep deprived monster.

Oh, and it didn’t help.

Five months after I started this therapy, my regular allergist sent me in for a bone scan. Considering that the drugs weren’t helping, and I had the bones of a 50 year old (at the age of 28), he took me off the steroids, and told me that I was never to have them again.

Let’s recap. I was fat, bitchy, swelling, (and by this time divorced) and was no closer to figuring out what the hell was wrong with me at age 29 than I was at age 20. I was bloody sick and tired of going to meetings with my eyes swollen shut, or working through the overwhelming fatigue that comes with a flair, and explaining to people in the supermarket what was wrong with me.

I looked up Immunologists in my area, and made an appointment with Dr. Ralph Shapiro at Midwest Immunology. Finally, there was someone who did tests and could figure out what was wrong with me. I had an answer! I had a diagnosis! I knew what could be done for treatment!

Which was nothing. Cause The Good Stuff isn’t legal here. (See HAE Basics)

I continued to maintain Allegra D twice a day, and we played around with some other drugs, none of which really worked. Androgen therapy was not an option for me as I was planning to have children at some point, and was against having a mustache. I found the HAE Association, which gives me support from other folks like me, and a place to ask questions and get advice, as well as keep up to date on the scientific work on treatment. I learned what some of my triggers were, and how to avoid them, if possible.

Between October, 2006 and July, 2007 I was hospitalized five times for throat swelling. Each time I was given FFP (fresh frozen plasma) to infuse C1 inhibitor into my body. It worked well; the swelling would go down, and I would be swell-free for up to three weeks. But then the swelling would start, and progress to the point where I would be hospitalized again.

I was put on monthly prophylactic infusions of FFP on August 1, 2007, which continued until March 12, 2008. This period was wonderful – I almost never had ANY swelling, let alone anything that made me miss work or cancel any activities. I was able to go to Ireland and move into our wonderful home with my husband. I had the life I hadn’t had since I was 20.

Four weeks ago, when I was in for my every-four-month checkup, I was told that I would no longer be getting the FFP – that the danger outweighed the risk, especially now that my sweetie and I are trying to start a family.

So, I’m back to being a sickie. As of the date of this writing (April 21, 2008) I have not had any FFP for almost six weeks. I have almost constant small swelling, and have had a couple of large flairs. It’s just a matter of time before I am back to the way I was before.

This blog is intended to track the path of my illness, both for medical purposes (and to document my symptoms as I look at applying for disability through my employer), but also because I don’t think anyone else in the HAE community is doing anything like this. On my “real” blog, the entries I get the most traffic on are about the HAE – it sounds like there are lots of folks that don’t know about this disease, and are also alone in treating themselves.

If you are one of those people (and have read to the end of this whole thing), drop by and say “hello”.  I have actually never met anyone else with HAE, and would be delighted to make some new friends.

UPDATE:  JUNE 1, 2009

After the FFP infusions were stopped, my flares returned with vengeance.  By June, I was almost completely incapacitated, and my doctors decided that it was time for me to seek disability coverage.

I stopped working on June 29, 2008, and was approved for long term disability for my Hereditary Angioedema, Type III.  As of this writing, my disability after six months is under appeal, as it seems the disability folks (a) did not get the information they needed, (b) did not read the information they did get, and (c) may have mixed me up with someone else – in the denial letter they sent me, the quote a doctor I’ve never even heard of, let alone seen.  I’ll keep you posted on that process.

While going through that,  my disability administrator has also required that I apply for Social Security Disability (SSD), luckily at their expense.  I expect to be denied (you have have no arms and no legs and SSD will deny you the first go round), but will have the resources available to me to fight the appeals.

In September, 2008, I went to the HAE annual conference.  While I was a bit stunned by the amount of ass kissing the HAEA did to the drug companies (and how much they paid for), it was a valuable experience as it was the first time I’d ever met anyone else with HAE, and I was able to talk to a scientist from Germany that has worked on HAE for 30 years, and was able to answer some questions for me.

First of all, I am considered a “mutant” in that I have no family history of HAE.  There is no such thing as a carrier or an asymptomatic HAE person – you have it or you don’t, and my parents have never shown any sign of it.  Therefore,  there was a mutation when I was conceived which caused my HAE.  Although I did not inherit it, there is a 50% chance that any child I might have will have it as well.  If my child does not have it, the disease in my lineage is dead.

Second, because I am both a Type III (blood results show normal C1 levels and function) and a mutant, there is a very, very small chance that the new wonder drug, Cinryze, will work for me.  While I clearly have SOME sort of protein deficiency that causes my mast cells to explode, we don’t know WHICH protein it might be.  Currently, there seem to be no tests or treatment – all efforts have been focused on the C1 deficiency, as they far outnumber the rest of us.

Finding this all out made the rest of my symptoms make a bit more sense.  “True” HAE folks don’t have pressure swelling, or the chronic urticaria.  Also, I have never had the abdominal swellings that plague other people (thank goodness), which has always set me apart from the rest of the groups.

So, at this point, there is no viable treatment for me.  When I have laryngeal swellings, I will continue to present at the hospital for FFP infusions.  And hope that sometime, somewhere, some scientist will start researching how to help me and the others like me.  I do not have a lot of hope for that:  HAE is very rare (1 in 50,000 to 150,000) and those of us that are not helped by C1 are a tiny, tiny fraction of that.  According to my math, there are 6,000 HAE patients in the US, and maybe 450 like me.  There’s no money in research or drugs for that small patient community.

Two days before Thanksgiving, Jeff and I found out that we are pregnant.  Our little boy is due on August 3.  While I am considered ‘high risk’ because of the HAE, pregnancy actually seems to reduce the symptoms (my doctors speculate that it’s because pregnant women have so much more blood volume and therefore more of the protein that they are missing).  This reduction in symptoms is not expected to last much past delivery, and I will in fact be getting FFP during delivery to hopefully stave off any backlash swelling, and to keep me swell free for a couple of weeks afterwards.   After that, we are most likely back to twice a week swelling and constant hiving.

To  be continued….