OLGA: Imagine you're stressing about a presentation you have to give at work. Your hands start to tingle and swell. You're not allergic to anything, and you haven't been injured.
MONTEL: This can be the reality for those living with hereditary angioedema, or HAE, a rare, genetic condition that is thought to affect approximately one in 50,000 people of all ages worldwide.
JESSICA: My name is Jessica, and I live with my husband, Derek, in Colorado Springs. I'm a registered nurse, and I work in a Cardiac ICU at a children's hospital, and Derek is a firefighter. We are extremely active, especially when it comes to outdoor activities. We hike, we go fly fishing, but our favorite is mountain biking. It is a huge passion for the both of us. I had my first attack in my early teens, which was almost 20 years ago. The bottom of my feet had begun to swell up. I felt like I was almost walking on tennis balls. And then my entire foot swelled up, as well as my hands. We thought maybe it was allergies, but as time went on, I started having these abdominal attacks as well. There was a lot of cramping, bowel problems, bloating, and extreme pain. I remember going on a family vacation in Hawaii, and I had another severe abdominal attack. So we went to a children's hospital. My mom mentioned to the doctors that she had HAE and was suspicious that I might have it as well. She was not on treatment for it, and I believe she just didn't understand the potential severity of having this disease. The doctors tested me immediately and the results were positive. I had HAE.
VO: Doctor Daniel Soteres is a board-certified allergy and immunology physician. He's been caring for adults and children with HAE for the last 20 years and is currently caring for 40 patients with this rare disease.
DR. DANIEL SOTERES: Hereditary angioedema, or HAE, is a rare genetic disorder caused by a deficiency or malfunction of the C1-inhibitor protein. The condition affects individuals of all genders, ages, and ethnic backgrounds. If we unpack the name: “hereditary” means it runs in families, “angio” refers to blood vessels, and “edema” means “swelling.” So hereditary, angio, edema. People with HAE experience random, recurring episodes of swelling. These are referred to as attacks. The attacks can affect the hands, feet, genitals, abdomen, face, and, in rare instances, possibly the throat. The severity of the swelling can vary greatly, from minor discomfort to a potentially life-threatening condition, since throat or tongue swelling blocking the airways can lead to asphyxiation. Swelling in the abdomen can cause excruciating pain and often brings people to the emergency room. HAE attacks do not always resolve quickly. Even with treatment, some attacks still disrupt daily life for several days at a time. HAE can have a profound effect on patients' lives. It can be painful, debilitating, and unpredictable.
JESSICA: We got back from Hawaii, and I was able to see an allergy specialist. I don't remember much, but there was a lot of talk about shots and infusions, so my mom said she did not want that for me. My mom had been coping with her HAE for years by herself, so she just made the decision for me based on what she knew about it. My mom was raised in a family where communication was sparse, and illness was always swept under the rug. I think I learned to follow the example of my family, which caused some hesitancy in me about getting help. I was scared, though. I started to learn to cope with my symptoms and manage what I thought might be causing them. I was going through puberty. Things would seem to get worse during my menstrual cycles. There were so many sports activities in school I really wanted to try, and every time I started training, my hands and my feet would swell up. It was super frustrating. I was scared all the time that if I pushed myself too hard, I'd get a stomach ache, and then it might turn into a full-blown attack lasting for days. I was missing out on a lot of life.
DR. DANIEL SOTERES: Diagnostic delays in patients with HAE have decreased substantially over the past several decades. It's likely due to a growing awareness in the medical community. However, substantial delays still exist in the correct identification and management of patients with hereditary angioedema. This can be due to many circumstances. Some patients have clear family histories and symptoms from adolescence, but they avoid testing for years. Many people have a family history of distrust towards the healthcare system, as well as frustration or anxiety from past experiences. Many patients often encounter a range of other specialists or end up going to an urgent care center before seeing an allergist, an immunologist or another HAE expert. Because HAE symptoms are so variable and often mimic other conditions, misdiagnosis can also be an issue. HAE is very rare, and most people, including medical professionals, are often unfamiliar with the disease, until they encounter someone who has it. Once we complete a thorough clinical assessment and family history, there are standard blood tests we can use to help identify a diagnosis of HAE.
JESSICA: By the time I was transitioning to college, I kept having abdominal attacks, I think a lot more due to the stress of life. I would end up in the hospital for days at a time on medications and missing school. I remember one time in college my lip began to swell up, and that was really scary because I know that it could lead to my airway closing up, and I did not want to have to get a tube down my throat.
DR. DANIEL SOTERES: While there is no cure for hereditary angioedema, there are things you can do to help manage this unpredictable condition. Your doctor can work with you on creating a complete, individualized management plan that meets and evolves with your needs. They can also help you understand the two types of hereditary angioedema treatment: preventative treatment and on-demand treatment. These work together to help manage the HAE. HAE treatment guidelines recommend that every patient consider preventative treatment, which is taken to help reduce the frequency and severity of attacks before they occur. We also have on-demand treatments available for when an HAE attack occurs, which patients should take as early as possible to help treat the symptoms of an attack after it started. My personal goal is to build trust, foster communication, and develop relationships with patients.
JESSICA: Dr. Soteres was so easy to talk to. I felt very supported, and he clearly explained the options available to me. He said, “You don't have to go on living your life with these attacks.” At that point, I was really encouraged. I began my preventative treatment, and my attacks seemed to be subsiding. I have realized that I do still have triggers, such as long bike rides or repetitive motion. One time we were doing an 80-mile bike ride, and I could feel the tingling start in my hands. I had forgotten to bring my on-demand meds, and it was super scary. It was a lesson learned for sure to always travel with it just in case.
DR. DANIEL SOTERES: I remind patients that stress is a major trigger. Anything from a stressful day at work or home to the stress of holidays. Even participating in sports can trigger an attack. My most important recommendation is to make sure you have an on-demand treatment available to use as soon as possible should you have an attack.
JESSICA: I'm really happy that I worked with Dr. Soteres to develop a management plan that worked for me, including managing my triggers. And now I'm starting a nursing career, and I have a really big passion of just learning how to advocate for yourself and sharing knowledge.
DR. DANIEL SOTERES: While Jessica was able to overcome her challenges, there are so many people in underserved communities who struggle to receive proper healthcare. Many people face challenges navigating health information, and these challenges can become even greater when managing a rare and complicated condition like hereditary angioedema. For these people, finding their community, others like them, if they can, it's huge. I work with a number of patients in these situations, and that work is extremely rewarding. The Hereditary Angioedema Association is an organization that has resources on their website for patients' use. They are doing some truly valuable work.
DR. DANIEL SOTERES: Jessica took remarkable steps on her own at an early age, she demonstrated maturity and initiative, reaching out for help, building her own support network, and eventually channeling those experiences and helping others by becoming a healthcare professional. Her story is inspirational, and on my long days at work, I think about what we have accomplished together, and it motivates me to get back in the office and keep doing what I do every day.
JESSICA: Looking back, when I was younger, I was just afraid. Managing our condition wasn't something that was discussed openly in our family. I have other family members who are diagnosed with HAE, and they have now started discussing management options with their physicians. So I guess I had to be the first one to make the step. I'm glad I was.
VO: If you or anyone in your family would like more information on HAE, visit DISCOVERHAE.com, and, as always, you can go to our website, TheBalancingAct.com.
1 in 50,000 globally
