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Generations of Living With a Rare Disease

Hereditary angioedema, or HAE, is a rare genetic disease1 that is not rare in my family. In fact, more people in my family have been diagnosed with it than not. But we didn’t always have a name for our family  “quirk,” the mysterious swelling and the stomach cramps that we all struggled with together. Even though I had my first swelling attack at 18 months old, and my father, brothers and even extended family all experienced similar symptoms, in the small town we lived, no doctor could give us an explanation. Swelling attacks, which were unpredictable, uncomfortable and could make my skin feel like it was going to pop, were normal for us.1 It was our normal, and it was the only thing I knew. 

It wasn’t until I was 15 that everything changed. My oldest brother died from what we later found were complications from a severe facial attack. I don’t remember a lot about that time, but I remember the look on my father’s face — I’d never seen that sort of grief before. Ignorance about this mysterious condition no longer felt like an option. Eleven members of my family drove into the city with the hopes of finding a diagnosis, and we left with the answer we were looking for: hereditary angioedema.

Now, we know so much more about HAE. We know it’s a genetic condition that involves recurrent attacks of severe swelling in various parts of the body. We know these attacks can be triggered by stress, but can also be unpredictable.2 We also know HAE is a dominant hereditary condition: if one parent has HAE, there’s a 50% chance their child will have it as well.3 I have three children, two of which have HAE.

For most of my life and for most of my oldest son’s life, there was no treatment for HAE. So little was known about the condition. While knowing the name of our condition was important, it didn’t change how much HAE ruled our lives. I missed work, missed school and missed life. It was hard to plan, and I was often unreliable because I never knew when another swelling attack would turn my world upside down. My son and I would often get attacks at the same time, and my husband would have to be the one taking care of us.  

Despite this reality, I wanted my son to live his life, and he did everything his body allowed him to do. He played football in high school, and even one year in college, and we dealt with the HAE attacks as best we could. You never knew when it was going to happen next, though, and for too long both my son and I lived in fear of our next attack. 

Over time, that has changed, and with advancements in testing, my youngest son was even diagnosed with HAE before he experienced his first attack. Now, unless you see me taking my medication, you wouldn’t know how much this rare condition has impacted my life, and I rarely experience attacks. Of course, it’s still a topic of conversation in my household, but it’s not an everyday conversation anymore. All my life, HAE has been a big, scary monster sitting on my shoulder. I never knew when it was going to show its face.

I want other families affected by HAE to know it doesn’t have to be a scary monster for them either. It still can be life-threatening, but having a management plan that works for you is so important. Being in pain is not OK, and we don’t have to live like that anymore. Reach out and get the help you need, even if that means being the squeaky wheel. If your doctor can’t help, find one that does — because there are doctors out there who can help you. 

It’s also important to remember you’re not alone. Despite having family members who could relate to what I was going through, for most of my life I thought HAE was this “weird” thing only my family dealt with that nobody else in the world understood. Now, from my own advocacy and experiences with the Hereditary Angioedema Association (HAEA), I know that although the condition is rare, there are plenty of people who share my family’s experience. Knowing you’re not alone is empowering, especially with a condition that causes a visual difference in your body. Experiencing swelling in public (which has happened to me) can be embarrassing and tough to deal with, but it’s also given me empathy, and it’s a special experience to connect with other people who know what it’s like.

I would tell a parent whose child was diagnosed with this condition to try not to live in fear. Educate yourself, educate your child and get them the treatment that’s right for them, but try not to let it dominate your life. I understand that fear. It intensified for me after I had children, because I know what it’s like to lose a family member to HAE and I didn’t want that to happen to my children. But at one point you have to decide to live your life, and despite all the ways this condition has impacted me, I’m glad my family and I did just that. 

While I’m not happy this family “quirk” has impacted both of my sons, and that my oldest son had to live so long without treatment just like I had, at least we have each other. At least we all understand what we’re going through. And although this journey with HAE hasn’t been an easy one, I’m happy we no longer live with so much fear, and can focus on what’s really important: living our lives and spending time with each other.

1Banerji A, Busse P, Christiansen SC, et al. Current state of hereditary angioedema management: a patient survey. Allergy Asthma Proc. 2015;36(3):213-217.
2Busse PJ, Christiansen SC, Riedl MA, Banerji A, Bernstein JA, Castaldo AJ, Craig T, Davis-Lorton M, Frank MM, Li HH, Lumry WR, Zuraw BL. US HAEA Medical Advisory Board 2020 Guidelines for the Management of Hereditary Angioedema. J Allergy Clin Immunol Pract. 2021 Jan;9(1):132-150.e3.
3Bernstein, JA. Severity of Hereditary Angioedema, Prevalence, and Diagnostic Considerations. Am J Managed Care. 2018 Aug 21. 2018; 24: S292-S298

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