We recently interviewed Makiko Matsuyama, who leads Japan’s patient organization for Hereditary Angioedema (HAE) patients, about the loss of her husband, her daughter’s diagnosis and why she’s passionate that patients know they aren't alone.
Hereditary Angioedema (HAE), a rare genetic disorder, causes episodes of severe swelling affecting the face, extremities, abdomen and airway. Swellings in the throat can be life-threatening. Matsuyama’s husband died due to a fatal HAE attack. The cause of his swelling symptoms was diagnosed only after his death.
HAE affects patients around the world. According to HAE International (HAEi), it occurs in approximately 1 in 10,000 to 1 in 50,000 people. The global patient organization has 106 member countries, including Japan.
Could you tell us about your husband’s unexplained symptoms, later identified as HAE?
Makiko: My husband had experienced symptoms since his student years – swelling in his limbs and severe abdominal pain occurring several times a year. Each episode was serious enough to disrupt daily life, and he even underwent surgery for suspected intestinal obstruction during university.
Although he received various diagnoses over time – such as allergies or gastrointestinal conditions – the underlying cause was never identified. We were left managing symptoms without answers for many years.
He seemed to have resigned himself to the idea that he would never be fully understood. Meanwhile, I searched extensively for information, convinced that there must be an explanation – but nothing definitive emerged.
Then, one day, he mentioned a slight discomfort in his throat. At the time, it did not seem serious. However, his condition deteriorated rapidly. When I met him at the station, his throat was visibly swollen. As we were about to seek medical help, he suddenly collapsed.
It was completely unexpected. I called an ambulance and followed the emergency instructions, holding onto the belief that he would recover. But the reality was devastating.
What did you learn after your husband’s passing?
Makiko: After his passing, the emergency physician carefully reviewed his history and conducted extensive research. That is when HAE was finally identified. I remember feeling a sense of relief—after so many years of uncertainty, we finally had an answer. At the same time, I could not help but think: if only we had known sooner.
How did you cope in the aftermath, especially following your daughter’s diagnosis?
Makiko: Amid the shock and grief, life continued. Raising my young daughter, managing work, and handling practical matters all came at once. The year that followed was far beyond what words like “difficult” can express.
One thing that gave me strength, however, was knowing that my daughter had been diagnosed with HAE early enough for us to prepare. That knowledge gave me a sense of direction and hope.
How does your daughter view her condition?
Makiko: She sees it as part of her individuality. While it can be inconvenient, she does not view it negatively. With knowledge, preparation and support, we have been able to manage the condition without excessive fear. Her perspective reminds me that HAE does not have to be a limitation.
Through your work with patients and families, what challenges stand out in daily life?
Makiko: One major challenge is that the level of support that people receive can often differ significantly. For example, some schools require parents to accompany children on trips due to perceived risks, while others provide flexible support. As a result, opportunities vary greatly depending on the environment. Even well-intentioned precautions, such as limiting participation in physical activities, can unintentionally reduce a child’s experiences over time. This highlights the complexity of living with HAE.
Does limited awareness of HAE lead to misunderstanding?
Makiko: Yes. Because symptoms are not always visible, they can often be underestimated. Some patients are told their condition is not serious or that they should simply endure mild swelling. Repeatedly explaining the condition can also be emotionally exhausting, which can result in reluctance to speak up at all. Over time, some individuals hesitate to speak up at all. This can lead to isolation and missed opportunities. Becoming accustomed to “holding back” may be one of the most challenging aspects.
What can people do to be supportive?
Makiko: Simple things, like asking how someone is feeling or offering support, can make a significant difference. For example, when someone is self-injecting during an attack, even a few words of reassurance can provide comfort and reduce anxiety.
What inspired you to lead HAEJ?
Makiko: Initially, I declined the opportunity due to the demands of work and parenting. However, after learning about international patient communities, I realized how important it is for patients to connect and share experiences.
When my husband was ill, there was no one to turn to. I wanted to create a space where people could feel supported and understood. Simply knowing that you are not alone can help you move forward.
Looking ahead, what are your hopes for the future?
Makiko: While HAE is a lifelong condition, treatment options have improved significantly. More is possible today than ever before. I hope for a future where people don’t have to give up what they want to do because of their condition, where living authentically is not the exception, but the norm.
Awareness of HAE is increasing, but true understanding is still developing. There is a meaningful difference between the two. By continuing to share information and perspectives, we can foster a more inclusive society.
Rather than seeing HAE as something distant or unfamiliar, I hope people will view it as part of the broader spectrum of everyday health challenges. That shift in perspective can make a real difference and bring us closer to a world where no one feels alone.
