The following story is part of an ongoing series celebrating Rare Disease Day 2022. For more information, click here.
People living with rare diseases, their families and their caregivers frequently describe a long and protracted diagnostic odyssey, taking years, or even decades, to receive a diagnosis for one of about 7,000 rare diseases—assuming they ever get that diagnosis at all.1 These years can be defined by uncertainty, multiple hospital visits, misdiagnoses and ineffective treatments that lead to wasted time, effort and resources. The experience can take a huge emotional toll, and the consequences can sometimes be devastating.
Makiko Matsuyama’s husband wasn’t diagnosed with hereditary angioedema (HAE)—a rare and serious immune disorder that causes swelling (edema) typically in the face, hands, feet and airways—until his last HAE attack.2 So now, as Vice President of HAE Japan—part of HAE International, a global umbrella organization for the world’s HAE patient groups—Ms. Matsuyama is dedicated to making sure HAE is identified and treated as quickly as possible. We spoke to Ms. Matsuyama to learn more about her and her husband’s experiences.
Q: What were your husband’s symptoms?
Ms. Matsuyama: When he was around 16 years old, he started experiencing edema in his hands and feet during certain times, like when he was busy studying or in poor health. He also had gastrointestinal edema several times a year, which led to heavy vomiting. He used a personal computer during work, but he couldn’t hold the mouse at all. Sometimes his feet would become so swollen that he couldn’t wear shoes to go to the office, so he stayed home. But he never knew that this was all caused by the same disease, HAE.
Q: What was the response when your husband showed symptoms?
Ms. Matsuyama: He lived in a rural area as a teenager. When edemas occurred, he would go to a small hospital or a university hospital. Once, he was diagnosed with an intestinal obstruction. He ended up with a large scar due to an unnecessary operation that he received. Looking back, doctors say now he was having HAE attacks.
After we got married, he experienced symptoms several times a year. He went to clinics or university hospitals in Kanagawa [where they lived] and Tokyo [where he worked]. But he was never diagnosed with HAE. Instead, he was often diagnosed with insect bites or allergy attacks in his hands and feet and told to come again. A week later, he wouldn’t have any swelling, so we were left wondering what had been wrong. Eventually he complained he didn’t want to go to the hospital. It was hard for him to go and then be sent around to several hospitals.
Q: What happened when your husband’s final attack occurred?
Ms. Matsuyama: It was the morning of October 1. He was 33 years old and had just changed his job at the time. Before leaving for work, he complained of a sore throat. We thought it might be due to the seasons changing and didn’t think much of it. But shortly after he got to the office, he phoned me to say, “My face is swelling up. I can’t even remember its original shape. My colleagues are worried and I’m going home.”
I was worried and so I took my daughter to the nearest train station to meet him. His swelling was worse than I imagined. We decided to go to a large hospital nearby. But on the way, because he was having his first laryngeal attack, he suffocated and collapsed.
I called an ambulance and he received care. I was thinking he would get better. However, the head of the ER department told me, “Tonight is crucial.” They tried every possible means. But the doctor explained that oxygen had not been getting to his brain for about 10 minutes. He looked surprised and said he had never seen such throat swelling. After examining him all night and confirming with me his history of gastrointestinal symptoms, he finally identified it as a rare disease called HAE. But it was too late, and my husband passed away.
Q: Looking back, what were your thoughts about finally getting an HAE diagnosis?
Ms. Matsuyama: We were living and working in one of the most populated areas of the world. Yet despite visiting several large hospitals to find out what was wrong, HAE wasn’t diagnosed for many years. If there had just been even one doctor [before the final attack] who suspected the possibility of HAE, then everyone would have understood what was causing the symptoms. More than anything, I hope that more and more doctors will recognize this disease.
Another thing is, since HAE stands for “hereditary” angioedema, the doctor recommended tests for my mother-in-law and my daughter. They of course received the tests and it turned out that they also have HAE. I confirmed my daughter’s diagnosis with a pediatric specialist, and her medical records are updated so her doctors will know immediately in case she has an attack.
Since there are treatment options available for HAE, it’s possible to deal with this disease if a diagnosis is made. So, when a diagnosis is confirmed for someone in the family, I recommend testing every member. By doing so, it may be possible to manage HAE attacks, and be able to quickly identify and inform your doctor when something happens.
Q: What message would you like to share with everyone about HAE?
Ms. Matsuyama: You can manage well if you know that you have HAE. I hope that this disease will become widely known to the general public, including every single doctor.
Ms. Matsuyama’s story helps to illustrate why we at Takeda are so committed to rare disease awareness and advocacy efforts. For people around the world struggling to understand what they’re experiencing, the path to diagnosis and treatment may begin with just one doctor, one friend, or one family member who recognizes the symptoms.