HAE – not for me!

The story of Gabi

Happy rare disease day!

Hereditary angioedema (HAE) is a rare, genetic disease that causes recurrent, unpredictable, and potentially life-threatening attacks of swelling in the body. (discoverhae.com)

My mom tells the story like this: I was 5 years old and it was Christmas day. I was coming down the stairs and I said, “I hope I can open my presents with this fat hand!” She knew what that meant immediately since it runs in the family (thank gawd I wasn’t the first one), and she called my grandma, bawling, with the worst thoughts running through her head (I have an uncle who passed away due to this disease, and my grandma and great aunt are affected severely).
I had a few non-memorable swelling episodes here and there until 7th grade where it really started to ramp up and impact my life; whether school stress, puberty, or something else causing it to ramp up, I’ll never know.
My most frequent episodes occur in my hands, feet, and gastrointestinal (GI) tract. While the hands and feet are extremely uncomfortable, they are still tolerable, and I am pretty much able to do my regular life (though writing and fitting my foot in a shoe is difficult, I manage).
On the other hand, GI swellings take me out for multiple days. A usual 72 hour ordeal goes something like this: the first 24 hours, I’m in and out of the bathroom every 10 or so minutes because I cannot hold down any type of solid or liquid (most times I opt to sleep in the bathroom), extreme exhaustion & severe dehydration (due to not keeping anything down), and insanely furious stomach pain (forget finding a comfortable lying position; it doesn’t exist. Forget getting any sleep while you’re at it). The next 24, I can at least keep down water but my stomach still hurts quite a bit, solid food is still questionable, so I stick to liquids (I’m soo hungry though), and I’m still extremely exhausted and dehydrated. The final 24, I’m still super tired and my stomach STILL hurts. I’ve missed countless holidays, celebrations, vacation days, work shifts, classes, sports games, etc etc etc. This was happening to me AT LEAST once a month, most of the time more. They are random and they come on slowly, typically starting with dull stomach cramps.
For most of my life it’s been unpreventable, unpredictable, and untreatable; I just had to ride it out. I truly thought this was something I’d just have to cope with my whole life, and it was honestly depressing.
I’ve said it before, I’ll say it a thousand times, but thank goodness for modern science! While it was a journey, it’s one I’d do again and again to get to the quality of life I have now.
Here’s the journey I’m talking about:
Ages 16 – 18: they came out with an emergency IV which had to be given by someone (usually my mom or dad), BUT I had to catch it ahead of time or it wouldn’t work. Sometimes it’s hard to tell the difference between an upset tummy and an eventual GI swelling so making that judgment call was never fun.
Ages 18 – 21: an emergency shot I could give myself (even though I don’t enjoy it one bit)! This was huge because the former was inconvenient given the randomness of these episodes. Again, I had to catch it ahead of time or it’s not as effective. But the portability and accessibility of it was amazing! I still use this one today, for emergencies. In fact, I had to use it on Monday due to a small (but still painful) GI swelling.
Ages 21 – 23: a twice a month preventative shot that I could give myself! My first experience with preventative medication and this alone was life changing. The number of episodes reduced significantly, though still occurring. I still wasn’t a huge fan of having to give myself a shot but it was better than nothing.
Ages 23 – current: a daily preventative capsule! I’ll never forget the day I found out I qualified for this medication; I knew my quality of life was going to increase immensely & I was so excited. I no longer had to give myself shots in order to prevent swelling episodes! The number of episodes decreased even more, and I now experience them maybe a few times a year (versus multiple times a month). I can’t even describe how much it’s changed my life 🙌🏼

Anyway, yeah, I have a rare disease and science is cool!