HAE Junior Helps Improve the Quality of Life for Pediatric Patients
Living with hereditary angioedema (HAE) brings chronic health issues, long-term psychological stress, and a lifelong threat of death. Initial symptoms of HAE appear during childhood or adolescence. Many patients, however, remain misdiagnosed for a long time. The patient organization HAE Junior strives for a better quality of life for patients with this condition by improving awareness and access to modern therapy.
Do Not Underestimate HAE Symptoms − They Can Be Life-Threatening
HAE is a rare autosomal dominant disease characterized by swelling in different parts of the body. These can be associated with abdominal pain, nausea, and vomiting. Symptoms can be painful and even life-threatening. Swelling in the neck area is particularly dangerous because it restricts swallowing and can lead to suffocation.
The disease, often misdiagnosed, is caused by one of more than 450 different mutations in the SERPING1 gene. This gene encodes the C1 inhibitor, leading to its deficient levels in blood plasma. As of 2019, 168 patients in the Czech Republic had been diagnosed with HAE.
More than Just a Health Issue
“Hereditary angioedema is traditionally treated as a health issue. Diagnosis is established, treatment is prescribed, and the patient’s condition is monitored. However, the disease also significantly impacts the patient's mental, social, and economic situation, as well as that of their family. We help address these problems,” explains HAE Junior founder and president, Camelia Isaic. A child with HAE, for example, struggles with the fear of unexpected swelling and frequent injections. This often results in missing school, which leads to problems in education and extracurricular activities.
HAE treatment has developed rapidly in the Czech Republic, especially over the past decade. Four specialized HAE treatment centers were established in university hospitals in Prague-Motol, St. Anne's in Brno, Hradec Králové, and Plzeň. A patient registry was also created. HAE patients now have access to acute rescue treatment, which significantly prevents the development of swelling. There is also a new subcutaneous preventive treatment available, which promises a significant reduction in the number of attacks or their complete disappearance.
“New therapeutic strategies have ensured the survival of patients with hereditary angioedema, which is excellent. But the disease also limits educational opportunities and career choices, causing patients to suffer from chronic depression or to become prematurely disabled. We do not want this path for today's children with HAE,” continues Ms. Isaic. Thanks to the activities of HAE Junior, patients have better access to information about new therapies, and there is better cooperation between the patient's family, healthcare providers, and educators. The patient organization is supported by the Institute of Immunology, 2nd Faculty of Medicine, Charles University, and University Hospital Motol in Prague. Collaboration also takes place within HAE centers in the Czech Republic and abroad. “We are grateful to specialists at these specialized facilities for helping to mitigate the health impacts of the disease on patients' quality of life. At HAE Junior, we help remove obstacles related to psychological, social, and economic aspects,” adds Camelia Isaic.
Active Despite the Pandemic
HAE Junior was established in 2019, and despite the COVID-19 crisis, it implemented several projects in its first year. Examples include a summer educational family camp, scholarships for HAE juniors, the creation of first aid kits, and insurance card stickers informing healthcare providers about the disease. Additionally, the organization runs awareness campaigns, provides counseling, and offers information services for families of patients and professionals. The results of a patient survey organized by HAE Junior were presented at the scientific international conference C1 Inhibitor Deficiency Workshop in June this year with positive feedback. The organization is a member of the Patient Council for Innovation and eHealth working group at the Czech Ministry of Health and the Patient Council ERN-RITA, section PID.
For more specialized information, visit the website: www.csaki.cz/hereditarni-angioedem
News about the patient organization: www.haejunior.cz
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MUDr. Andrea Skálová
editorial team MeDitorial
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