My Journey to a Diagnosis:
How HAE Advocacy Saved My Life

Advocacy is an important aspect of raising awareness for and educating others about Hereditary Angioedema (HAE). Hear Kayla’s experience in finding a proper diagnosis and how advocating for herself led to a successful HAE diagnosis that saved her life.

I will never forget the day. I was 19 years old, on a family vacation, visiting extended family in Michigan. We woke up, decided to go to the mall and shop, and stopped for the obligatory trip to get some coffee. It was such a fun morning, and I was feeling great! Unfortunately, this fun and enjoyment was cut short by the quick onset of excruciating pain in my stomach followed by hours of heaving in pain in the restroom. I was confused and scared. Do I have a new allergy? Did I somehow get a rapidly spreading virus while walking around the mall? What is happening to me?

My family and I were confused. We assumed that I had developed a dairy intolerance, since that was one of the ingredients in my coffee the morning of this stomach episode. I cut dairy out of my diet, and even went on to cut more out of my diet out of an abundance of caution. To my dismay, these changes did not fix anything for me. This first event was followed by years of painful, random episodes of vomiting for hours, painful intestinal problems, facial swelling, and hand swelling.

I went to many doctors appointments and was told that I had an unknown allergy, or had doctors insisting that I must be pregnant. I proved time and time again that neither of these things were the case, and yet no one seemed to listen to me. It took seven years of confusion, pain, frustration, and worry for me to get answers. “What is happening to my body?” I thought. I felt like I was going crazy.

Finally, when I was 26 years old, I'd had enough! My hands were swelling every week, and I was having bi-weekly bouts of painful and uncomfortable digestion. Fueled by anger and frustration, I began to research my symptoms. Looking back, I don't know why I didn't do research earlier! I wish I would have so that the pain and suffering could have been solved more quickly for me. However, I am a believer that everything happens for a reason at the right time.

After an hour or so of researching, I found a condition that listed every single one of my symptoms. I couldn't believe it! There was a condition that people had that listed every symptom I'd been experiencing! I felt a mixture of relief and concern for what my next steps should be. I showed the results to my then fiancé (now husband), "Look at this! There is a condition called Hereditary Angioedema, and I have experienced almost all of the symptoms!" My husband was surprised but also cautiously optimistic. Fueled by the potential of having an answer, I stayed up until three in the morning researching this condition. I became obsessive about the condition for days.

I emailed my new allergist, who recently gave me an allergy panel that resulted in another disappointing visit with no answers. I told him that I had been researching my symptoms and that a condition called HAE looked like something I might have. At first he was hesitant, as he told me it was very rare. I pushed, and told him that I was requesting blood work for this condition regardless of how rare it was. He listened to me! This is something I will forever be grateful for. He trusted my intuition and put me, his patient, first. I realize how fortunate I was to have a doctor that trusted me at that moment.

During the waiting process of my blood tests, I told everyone who knew me that I was certain I had HAE. I knew it in my core. Family members and friends cautioned me to be careful of getting my hopes up, as they had seen me struggle with searching for answers for years. I knew they had my best interest in mind, but I also knew that I had to be right. I felt a little crazed at the time, and I knew the people around me were worried, but having an unknown health problem for the majority of a decade will do that to a person.

The day came. I took my blood test. First the C1 test and then the C4 test. I was impatient at the arrival of my results. The moment my results arrived, I got an email. I logged into my patient portal and saw the results I had been so anxiously awaiting. My blood had a zero percent concentration of the C4 inhibitor, and I also had exceptionally low levels of C1 in my blood. I stared at the results for a while. I googled what it meant. I couldn't believe it, I had my answer!

Quickly after receiving my results my doctor reached out to me. He first thanked me for advocating for myself. I had never had a doctor actually thank me, but he did. This meant so much to me. I questioned myself time and time again throughout this journey. I wondered if I was bothering my doctors, or if I had been asking too many questions. Him thanking me is something I will never forget. I found out upon discussing this with him, that he had worked with other doctors in the past that now specifically treat patients with HAE. He also had another patient with HAE and was knowledgeable on this condition. I felt extremely validated in these conversations with him.

We discussed my treatment options, and he prescribed emergency treatment right away. We also discussed the many treatment options he knew about. He even went so far as to reach out to the previously mentioned former colleagues to get their opinions on prophylactic treatments. After a few discussions, we agreed on the best prophylactic treatment for me. I felt so grateful and relieved.

Since getting my diagnosis, I have gained confidence in myself again. The experience has been a journey, and even after getting diagnosed I experienced some fears and anxiety. However, I went from feeling scared and confused with no answers, to finally receiving answers and treatment options that work! My advocacy, paired with a doctor who listened to me, literally saved my life. My journey to diagnosis was not easy, and there is still so much that I am learning about my diagnosis. However, I am living a full, active, and joyful life because of the decisions my doctor and I have made. I am living beyond my HAE!

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