Patient and Caregiver Track of EMEA 2023

Introduced to the stage by Michal Rutkowski, four brave and committed people with HAE took turns to tell their own stories in their own words.

Marijk Beekman-Kortekaas – Netherlands

“I’ve always looked at what I can do instead of what I can’t do.”

Speaking first, Marijk revealed she waited almost 30 years to get a diagnosis despite living in a rich country with an excellent healthcare system. One clue to this delay is that she is the only per-son in her family with HAE. The lack of a multidisciplinary approach also contributed, as many different specialists didn’t communicate with each other, meaning no one could agree that it was a single disease. In those 30 years, Marijk nearly died three times from throat attacks and under-went three unnecessary surgeries. She lost count of the hospital admissions, with her symptoms starting when she was just a baby. Over the years, she has been misdiagnosed many times, with illnesses including allergies, asthma, reflux disease, and Crohn’s disease, leading to a vast number of medicines which, of course, didn’t work.

Growing up, Marijk remembers missing out on life, never making birthdays, holidays, or parties. When puberty hit, her attack frequency and severity increased, eventually reaching one or two attacks a week. Hand and foot attacks after sports stopped her from playing tennis or running. Finishing her education was difficult, and work was impossible due to the constant need for sick leave. Despite all this, Marijk maintains a positive outlook; “I’ve always looked at what I can do instead of what I can’t do.”

Finally, her gastroenterologist conducted a colonoscopy during a swelling and told her he knew what was wrong with her.

Embarking on a quest to educate herself on her ‘new’ condition, Marijk got a referral to a leading HAE specialist in the Netherlands. Treatment was available but required hours of discussion in hospital. At this point, Marijk admits it was time for self-management, but she was scared.

Marijk recalls: “My specialist was so empowering. He trained me to administer for myself, and as a test, he let me put a needle in his vein. That was such a powerful moment. Putting a needle in the vein of your doctor, I knew I could handle living with the disease.”

Despite attacks and trying lots of treatment options, she is now getting periods of relief every month. To help others, she decided to become President of the Member Organization in the Net-herlands. She was nervous about traveling to an HAEi meeting in Frankfurt to get ideas and con-nections, but her Regional Patient Advocate welcomed and empowered her. She left the meeting a different person. She concluded by saying: “Together we can move mountains.”

Daniella Nhaguilunguana – Mozambique

With new knowledge from the conference, Daniella is excited to go home and work with her doctors.

The next to speak was Daniella from Mozambique. She, like Marjik, is the first patient in her family to have been diagnosed with HAE. She described Mozambique as a developing country on the south and eastern coast of Africa, which means diagnosis of HAE is “a little bit complicated.”

Daniella describes her first attack at the age of four. “Out of nowhere,” she says: “my lips started swelling so much that my mouth closed. Everybody looked at me like I was a piece of art in a museum before being rushed to hospital.”

Afterward, Daniella tells of many years of similar attacks. Every time she went to the hospital, they had no answers. At 14, a tongue swelling started to cut off her breathing. In what she and her family describe as a “miracle,” she started breathing again and got better. After a trip to South Africa for tests yielded no results, the doctors gave her the prognosis that she wouldn’t live long.

Things started to change for Daniella when she left Mozambique to study in India. After a severe attack put her in hospital in a medically induced coma, she met Dr Pratik Agarwal, who had some information about HAE. Blood samples were taken and sent away to Singapore for testing. A couple of months later, Daniella finally had a diagnosis. Daniella recalls: “I was so scared. I was alone in a country getting a very rare disease diagnosis. I stopped going to the hospital for a while, but after another attack, my doctor finally convinced me to get treatment.’ Daniella found relief with stanozolol, but it caused side effects. During attacks, FFP and tranexamic acid were used.

Her attacks continued, but Daniella was encouraged that her Indian doctors were willing to learn, but she was nervous about returning to Mozambique after her studies. She worried: ‘How am I going to explain to doctors this is not an allergy or some sort of curse, but a real disease?’ Her nervousness was helped when she contacted HAEi and met Patricia Karani (the RPA for Sub Sahara Africa). Patricia supported and connected her with a doctor in Mozambique who had information about the disease.

Although treatment options in Mozambique remain very limited, Daniella continues to live her life. Earlier this year, she traveled to a remote province of her country to work with the communities there, living for a whole year without treatment. She credits a vegetarian diet for reducing her symptoms.

Daniella remarked that being at the HAEi Regional Conference EMEA had been great for her, with the chance to question experts about treatment. Armed with new knowledge, she is excited to go back home and work with her doctors.

Daniella expressed a hope that in the future there will be a Member Organization in Mozambique, and is motivated by a memory of spending time in hospital with a young guy who had the same symptoms as her: “He used a handkerchief to hide his face, which was the same thing I had done for years and years because I was ashamed. My biggest dream is to be able to find him and tell him that I have an answer for this disease.” For that reason, Daniella is committed to bringing testing for HAE to Mozambique.

Meryem Jennane – Morocco

She found the HAEi website and sent an email. Someone responded, and her life changed.

Meryem from Morocco recalled her mother suffering several painful and debilitating episodes of illness. She was the only one in her family to suffer. The only name they gave her mystery condition was “periodical illness.”

Meryem herself first experienced symptoms at the end of stressful high school examinations. Her hand swelled, which she thought was all the writing during the tests. But, from that moment, she had what she described as many “crises.”

Meryem recounts how her HAE, which she now knows is HAE type III (HAE with normal C1 inhibitor), is highly sensitive to stress. Her stressful job in finance led to a scary throat attack. Thankfully, Meryem’s parents were staying with her at the time and could get her to hospital. Lying in hospital, Meryem felt frightened. She told herself this cannot continue. She increased her research. Eventually, she found the HAEi website and sent an email. Someone responded, and her life changed.

Meryem was put in touch with the Moroccan organization. Plucking up the courage to join a meeting organized to coincide with the national day of hereditary angioedema, she went along and, for the first time, didn’t feel alone and could get her questions answered. At this point, she says she could take matters into her own hands.

Despite challenges with care and medication in Morocco, Meryem describes doctors who are really careful to help her. She is working with her Member Organization and sees signs of progress. She concluded her speech by telling everyone present: “We don’t lose hope because hope brings life.”

Verche Jovanovska Jankovska – North Macedonia

We all get used to the everyday fights of people with HAE, but to others, they can be an inspiration.

Verche started with a story. A few years back, her then nine-year-old son wanted to run in a 5km race. On the morning of the event, he had an HAE attack, but after treatment, he insisted on still participating. Then, a journalist contacted Verche. To Verche, the story seemed mundane, but the journalist insisted it was very newsworthy. The resulting media coverage turned her son into a hero of the event and helped increase awareness of HAE.

Verche told the story to illustrate how we all get used to the everyday fights of people with HAE, but to others, they can be an inspiration.

Thinking back further, Verche described her diagnosis. Despite a first attack at the age of four, diagnosis took another four years. Her twin sister was hospitalized for weeks with a facial attack. Luckily, a knowledgeable doctor was on hand, and he called every member of our family. In just a few weeks, a diagnosis of HAE was confirmed. At the time, treatment was unknown.

One of the everyday fights Verche mentioned was not to let HAE define her. She said: “We had dreams to lift our single mother from the verge of poverty. I continued my education and got a pharmacy degree. I now work in quality control for the biggest pharmaceutical company in the region. Mine is the final signature that means a drug can go out. Colleagues told her: ‘If you deal with this (HAE), you can deal with everything.”

Verche’s mother remembers that her mother died at 33 years old. She was undiagnosed, but when she died, she was swollen. Speaking more about her family, Verche praised her sister, who helped found the Macedonian HAE Member Organization in 2009, along with physicians and Verche. Since then, she described their success as: “We really moved mountains.”

Verche also praised her husband, who took on the role of caregiver willingly and has gone from being: ‘The person who was afraid of needles to the best medical guy in the family, administering therapy as if it is nothing and then going back to bed.’

Verche and her husband hope their son is the last to have HAE. Diagnosed at just one-year-old, he struggled with very frequent attacks. Expensive medicines were bought, but that wasn’t sustainable. Verche started writing, asking for support. She said, “The only person who ever answered was Henrik Balle Boysen. He brought us to Copenhagen for the first global conference in 2012. We were welcomed with ribbons that said, ‘Together we are strong’. We started to cry; it was the first time we felt we belonged somewhere.”

That started what Verche described as the ‘Macedonian miracle.’ Henrik personally came to help in advocating with officials for treatment. A vast range of public awareness-raising activities were undertaken, from riding bikes to running marathons. Verche recalls being on TV so often she was recognized by a bartender.

Verche told the audience not to wait patiently for someone else to solve your problems: “When you think your life is not good, remember you are one of the 7% that Fiona mentioned earlier. We have treatments and we have options. If you feel stigmatized, remember we all of us felt that way at some point. We have left the dark ages of just 10-15 years ago.”

At the conclusion of these emotional and powerful presentations, all speakers were given a long and warm round of applause from all present.