The story of Maddie

My name is Maddie, and I’m from Pittsburgh, Pennsylvania in the US. I have Hereditary Angioedema, which is a rare and potentially life-threatening genetic condition that involves a defect in the gene that controls a blood protein called C1 Inhibitor. This deficiency causes a chain reaction of cellular events that results in swelling episodes throughout my body. Throat episodes can cause asphyxiation and death, while attacks in extremities, stomach, and face can cause extreme pain, discomfort, and immobilization.

The day I got diagnosed, I was at the pool with my mom, my brother, and my grandma. My hand started to swell up, and I didn’t know what was happening. My mom looked at it, and tried to figure out what happened? Did I get stung by a bee? Was I having an allergic reaction? Then it clicked. One ER trip and blood test later, I was diagnosed with HAE type 1. That day was the start of seemingly endless doctor’s appointments and emergency room visits throughout my early life. I had been having attacks since I was around four years old, but my parents did not connect the dots for two years despite my dad’s diagnosis and its hereditary nature. And despite what one might think, a two year diagnosis period is very lucky. The average timeline for diagnosis is ten years on average.

HAE attacks can be random or triggered by seemingly anything. I have to limit my exposure to the cold in order to prevent my hands and feet from swelling, as well as monitor my general exercise limits. It’s a tricky balance to maintain, as staying active is recommended but can also trigger medical episodes. I have a particularly interesting time with this, as I run and play soccer. HAE also caused me to develop another condition, Reflex Neurovascular Dystrophy. Both conditions combined have resulted in constant pain for the last six years of my life and frequent wheelchair usage. Doctors do not understand the condition as they were never educated on it, so I have to see a specialist hours away from my home. Using varying mobility aids while also being a multi-sport athlete is generally tough to comprehend. It just depends on the day and my limits, but the inconsistency of my physical presentation creates doubt and disbelief.

One of the best days of my life was the day I turned twelve. That was the day that I gained eligibility for prophylactic treatment. With multiple infusions per week, my attack severity and frequency is decreased. I also have more independence because I can give myself IVs for my treatment, and no longer end up in the hospital. This allows me to live my life with less interference from Hereditary Angioedema, despite other medical complications like Reflex Neurovascular Dystrophy. My treatment plan allows me to compete in athletics, go to school on an uninterrupted basis, and soon, go to college.

Because of the rarity of HAE, our patient community is very tight-knit. I’ve participated in advocacy projects from video campaigns, to legislative meetings on Capitol Hill, to running the youth Instagram page as an intern. Turning hardship into action is the most important thing that I have learned from having HAE. My goal is to use my lived experience to advocate for rare disease patients across the world, especially for those with HAE. Increasing access to HAE medications in concurrence with increased awareness saves lives, improves patient outcomes, and allows people with HAE to live out their lives in a more fulfilling and positive way.