“I have the answer, Katie.”
It was the most indescribable moment of my life. It was surreal, the entire world stopping in an instant. I remember the air being ripped from the tiny office, and shiny flickers of medical devices dancing around me as the room spun. I fought for shallow breaths, and tried to focus solely on the brilliant, compassionate doctor that sat before me. I managed a nod, and braced myself for whatever was to come.
“You have Hereditary Angioedema, Katie. It is very rare.”
I fought the urge to sink to the icy floor, desperately grasping the medical table until I heard the paper covering tear beneath my hands. Hereditary Angioedema? What was that? What did it mean? Tears stung my eyes. I looked to my father, my hero and fellow doctor appointment warrior. He appeared calm, but his blue eyes were screaming with emotion, flashing with relief, excitement, terror, confusion and grief – all in an instant. He turned to me, a mirror of the same volatile emotions, and smiled. He was there at the start, and at the end of my brutal six year journey for answers. There was no need for words. We had made it.
“It is very rare.” Even at the peak of my confusion and emotional chaos, this rang true. The horrific abdominal pain started when I was twelve. Attacks of acute pain, nausea, and diarrhea were accompanied by severe, mysterious swelling. It was excruciating and unrelenting. At times, my abdomen would be so distended I appeared pregnant. I went to countless specialists for help but no treatments were successful in easing my pain. I underwent numerous surgeries that left my body broken and on the brink, leaving me without answers and in the hospital for days. None of the diagnoses I had received made any sense either – the latest being my symptoms were all in my head. It was missed time and time again, this rare, illusive illness. In the end, it only took simple blood test to diagnose me with Hereditary Angioedema.
My life was forever changed by those two words. Before, my world revolved around a nameless, agonizing pain that threatened my life and dreams. But the moment I could define it, it ceased to clutch and control me as it did before. Now, I knew what I was fighting, and felt inexpressible hope, affirmation and determination. Leaving the doctor’s office that fateful day, I left my past behind. My life became about education and advocacy, and reclaiming my power, hopes and desires. Those two words are with me always, and they have helped make me who I am today. But they do not define me.
Today, I honor those words – May 16th, is HAE Day. Around the world, people are striving to raise awareness and funding for Hereditary Angioedema research. There are treatments available now, but there is still much work to be done. For me, it is a day to reflect and celebrate with my family and friends who were unwavering in their love and support throughout my journey. We were not torn apart by this devastating illness. Instead, we grew. The challenges and triumphs have only strengthened the bonds of love, humor and devotion that tie us together.
I also celebrate with my HAE Family. They are truly a rare group of people. Most obviously, they have rare genes. We all share a defect in the gene that controls a protein called C1 Inhibitor. Some of our bodies do not produce enough C1 Inhibitor (Type 1), and some bodies produce C1 Inhibitor that doesn’t function properly (Type 2). I have also met individuals who have HAE with Normal C1 Inhibitor (Formerly Type 3). We all swell. Swelling can occur in any part of the body – extremities, organs, abdomen, or the throat (which can be life threatening).
But beyond the genes and under the swells, they are rare. I have been welcomed into the community by individuals who possess unbelievable strength, compassion and courage. I am constantly in awe of the exceptional grace and humor I encounter. Today, they are organizing walks, memorials and bake sales, all in the hopes of spreading the word about HAE. There is a rare bravery and optimism in fighting for others, and striving to make the future better for the next generation.
We embrace this day in the hope of having an impact and making change. It is my only hope that one day, it will not take a young girl and her father six heartbreaking years to hear the words “Hereditary Angioedema.”
Please join us in celebrating HAE Day, and help us cover the world in smiles at https://www.haeday.org/
For more information on Hereditary Angioedema, please visit https://www.haea.org/