Finding Strength and Happiness After a Rare Disease Diagnosis

The journey to a Hereditary Angioedema (HAE) diagnosis can be challenging and, in some cases, take several years. Hear from Casey, an individual with HAE, who describes her difficult journey to a diagnosis and how she found strength and happiness after being diagnosed.

I was diagnosed with Hereditary Angioedema (HAE) Type I when I was 29 years old. The journey to my diagnosis day wasn't easy.

I was 19 years old when I had my first memorable HAE attack. We had just gotten to our cabin for a weeklong vacation. My stomach started to feel a little strange, but I didn't think much of it. Then about an hour later, I was in so much pain and my stomach was swollen and hard. The pain was something that I had never felt before. I fainted from the intense pain and hit my head on the bathroom door. My parents rushed me to the doctor, where I was told that I had a virus and needed to rest for a few days. A few days passed and I felt better, so we didn't pursue anything further.

As the years went on after that first attack, my attacks progressively got worse, happened more frequently, and lasted longer. These attacks started to affect my personal and professional life. I was missing out on time with friends, family, and work. I also started experiencing severe anxiety when I knew I needed to be "healthy" for an activity or event. I would be so nervous about getting sick when I had plans, that I would end up getting sick almost every time. It broke my heart to miss out on so many things, especially when I didn't know why this was always happening to me.

Work was also a struggle. I remember working through many of my abdominal attacks. I would be in so much pain that I would forget what I was doing or forget portions of what I did that day. Fortunately, most of the employers that I had during this time were gracious with me when I was sick, and I am so grateful for their compassion.

Over the next ten years, I continued to have these debilitating abdominal attacks that left every doctor that I saw baffled. A few doctors were convinced that I had appendicitis and I came close to having an unnecessary surgery. I was also diagnosed with irritable bowel syndrome, and was told that I needed to change my diet to get rid of my stomach troubles. We thought maybe it was just a symptom of my anxiety. I tried to stay optimistic when trying new things to stop these painful stomach attacks.

As I searched for answers, I underwent more imaging scans than I can remember, countless blood tests, a colonoscopy, multiple upper endoscopies, and a paracentesis to extract some of the excessive free fluid in my abdomen during an attack. Along with my abdominal attacks, my feet, hands, arms, legs, bladder, and lips began to swell too. It got to a point where I couldn't even use scissors without my hand or half of my arm swelling up.

Towards the end of my mystery attacks, I was in and out of the hospital. At one of my last hospital stays, the doctor looked at me and said, "We're going to find out what's going on before we send you home." I thought he was a little too hopeful, but by the time I left that hospital, he was referring me to an immunologist for an HAE diagnosis. I will never forget that doctor because he changed my life in the best way.

This was it! I was on my way to a diagnosis, and I was so excited to finally know what I've been dealing with for the last decade of my life. The immunologist did blood work and confirmed that I did indeed have HAE Type I. I was prescribed a rescue medication to administer during the time of an attack and they taught me how to self-administer that medication during my first appointment. A few days later, an abdominal attack started and I injected my rescue medication right away. All I could say was "wow!" My attack stopped in its tracks, and I was able to quickly return back to my normal life.

After my diagnosis, I researched as much as I could to learn about HAE. I embraced my diagnosis and I started educating everyone I knew and every doctor that I saw about HAE. Getting a diagnosis was empowering and finally being able to treat my attacks with medication was incredibly freeing. I finally felt like myself again. My family and friends have been very supportive, and my husband has been my rock every step of the way throughout my HAE journey.

I'm six years post-diagnosis and living a very happy and fulfilling life. I started writing as a hobby, which was inspired by my HAE. I'm able to spend time with family and friends without being afraid of canceling on them. I go hiking and spend time outdoors. I have a new perspective on life and cherish the little things far more than I ever have before. I no longer let my HAE forge my path, I get to decide what comes next. HAE was once a burden in my life, but now I feel like I wouldn't be me without my HAE.

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