The Patient Journey and HAE Management

The third session of the scientific track was chaired by Dr Hilary Longhurst and devoted to the patient journey and HAE management.

The Patient Perspective

Taking a break from his role as an HAEi Regional Patient Advocate, Yong Hao shared his experience of life with HAE.

He started by telling the physicians and scientists present that his first attack took place when he was 21, just as he was about to begin his national service in the army. He remembers being confused as he had hurt his ankles before playing basketball. This time, the sole of his right foot was swelling more and more. After a few days, he went to the emergency department at the urging of his family. He was admitted to the hospital, where they thought he might have gout or arthritis. He was discharged when the swelling started to subside but without a diagnosis.

Yong Hao used the term ‘diagnostic odyssey’ to describe his experience, which he suggested was common with others in the region. He saw numerous doctors of different specialties in different hospitals before finally being diagnosed. He said that for some people, this can lead to losing trust in medical professionals as no one seems to know the problem.

Additionally, Yong Hao felt there may be a problem for patients and family members who have not yet been diagnosed and are unwilling to follow up with a doctor. Some of this, Yong Hao suggested, can be due to cultural concerns about becoming a burden on their family but also the idea that ‘Western’ medicine may not be effective and may have side effects.

Yong Hao described a breakthrough in diagnosis when he started to keep a record of his attacks and to take photos of the swelling, especially since he had never seen a specialist while having an attack. After seeing the images, the specialist was able to rule out gout or arthritis. Yong Hao also searched online once he was able to exclude those 2 conditions and saw information about HAE, which he was able to discuss with his specialist. It led to testing, and 2 weeks later, a confirmation of HAE Type 1.

Yong Hao told the audience he is still treated by this specialist, who is still unfamiliar with the condition but follows guidelines on the management of the condition. He receives danazol for preventative purposes and C1-inhibitor for on-demand treatment. He stressed to the audience that, as a patient, it is easy to trust your doctor when your condition is well-managed.

According to Yong Hao, one way to build trust with patients is to have a bigger conversation than just diagnosis and treatment. Asking about the impact of HAE on finances, work, and social life is important for patients to feel that their doctor cares about their experience. By switching from a curative conversation to one that focuses on understanding the individual, patients feel better able to trust. However, Yong Hao felt that healthcare systems are rarely set up to achieve this.

In conclusion, Yong Hao urged physicians to tailor consultations and conversations to fit the needs of HAE patients, allowing for issues beyond treatment to be discussed. By better understanding the experience of patients and by working with patient advocacy groups, clinicians can build trust and better manage the condition.

HAE: Beyond the physical symptoms

Debs Corcoran from HAEi was joined onstage by Krizzia Lavone Ramos Alferez from HAE Philippines. Introducing the session, Debs reminded the attending physicians that while the physical symptoms of HAE may be obvious, as they can be seen and felt, HAE has a broader impact on those living with the condition and their families, which is often not seen and not talked about. Debs then turned to Krizzia to ask her about her journey with HAE.

Krizzia told the audience that she and her family were the first HAE patients to be diagnosed in the Philippines. She was diagnosed by Dr Abong, who spoke in an earlier session. Krizzia’s HAE started when she was 14 years old. She had swellings in her hands and feet, and other members of her family had similar symptoms, but these were dismissed as just sensitivities. After her mother was hospitalized with a throat swell, they were all tested and diagnosed with HAE.

Before her diagnosis, Krizzia remembers having to miss lots of school, college, and work. She has now worked closely with HAEi to build HAE Philippines as a patient organization and collaborates with doctors on helping patients take action.

Debs asked Krizzia to tell the audience more about how HAE makes her and other patients feel, especially when it causes them to miss school and work.

Krizzia said it’s not the same for everyone, but attacks are painful, so people can’t do their everyday work, which means they miss out and find it hard to catch up. She also said that the worry HAE causes can make people miss out on many things. She’s heard people say they don’t want to travel in case they have an attack, which means they miss out on social activities, holidays, and even seeing family. Being away, Krizzia said, is also a source of worry for caregivers. Caregivers often talk about feeling guilty if they are away and a family member has an attack.

Debs then asked Krizzia to tell the doctors present how they can help patients with the broader impact of HAE. Krizzia responded that she’d like them to consider more than just the physical symptoms. Asking patients, ‘How are you feeling?’ could be an important question. As a nurse, she knows that asking such questions can be hard as there might not be a simple answer, but for patients and being a patient, too, just being asked can be really helpful. She said simple self-care can help people feel less anxious or worried.

Having a knowledgeable doctor who can support you is also a great relief for patients. Krizzia suggested that even if treatment options are limited, knowing your doctor understands HAE helps. An important part of this is working with Member Organizations to ensure good educational materials for doctors, patients, and caregivers.

In conclusion, Debs thanked Krizzia for her bravery in discussing these issues. She also highlighted the resources currently available on the HAEi website. Additionally, she trailed a forthcoming HAEi leaflet on individual self-care wellbeing, which will be available as part of preparations for hae day :-) 2025.

The Physician Perspective

Rounding out the session was Professor Philip Li, who gave his own experience of the importance of understanding and appreciating the lives of his patients.

He opened by saying that for him, really listening to patients is one of the most rewarding parts of his daily practice and that by doing this, it’s possible to know that a difference has been made to an individual.

Professor Li told the audience a story about an imaginary world in which every patient was diagnosed quickly and without problems relating to cost and availability of testing. The individual would be referred to him fast and would understand and accept their diagnosis. Depending on their disease and personal preferences, a range of treatments would be available for that patient. After the third visit, the patient’s HAE would be conquered!

“This has never happened – yet – in my career,” was Professor Li’s assessment. The facts are that he is still looking for patients; many are unwilling to be tested, medications are limited or not available at all, regional data is lacking, and stigma remains for people with HAE.

All of the problems, according to Professor Li, can be overcome if physicians work with and empower their patients. To raise awareness, Professor Li told the audience, “I’m completely powerless. I 100% depend on patients. I’m boring, but a patient sharing their story is different.”

The situation is similar to issues of medical education. Patients’ contributions can develop the materials needed, and by sharing them widely with their doctors or those they see in emergency rooms, the knowledge of HAE will increase.

One big collaboration area for Professor Li is increasing the number of diagnosed patients. Cascade family screening is beneficial. Professor Li suggested speaking to existing patients to uncover potential cases, especially as Asian families can be huge. For him, this was crucial as increasing the population of patients means expanding the interest of pharmaceutical partners. “You need a critical mass”, he told the experts present.

He acknowledged that it is easy to be discouraged and demotivated.

“We have all been there. Every one of us has felt it’s impossible.” Professor Philip Li

Professor Li stressed that the important thing is to collaborate: Work with your patients and colleagues.

In the subsequent Q&A session, Professor Li discussed the ultimate diagnosis in children of asymptomatic parents. He suggested it is difficult to give exact answers as it depends. It can be that a patient is not asymptomatic but had forgotten a solitary attack some time ago. He cautioned that doctors should challenge patients to ensure they can tell you everything you need to know.

Finally, Professor Li also urged his colleagues across APAC to work together on a plan to improve the available local and regional data, as this will help develop appropriate regional guidelines. The first step for him would be to understand the number of diagnosed patients receiving care.