On the occasion of February 28, World Rare Diseases Day, the Pediatric Rheumatology Association, in cooperation with Novartis, launched the awareness film “Catch Life with Early Diagnosis in Rare Diseases” to draw attention to the difficult journey of children with rare diseases in Turkey, to stand by their relatives and to raise awareness in the society. President of Pediatric Rheumatology Association, Head of Hacettepe University Department of Pediatric Rheumatology Prof. Dr. Seza Özen, Vice President of the Pediatric Rheumatology Association, Istanbul University-Cerrahpaşa, Head of the Department of Pediatric Rheumatology, Cerrahpaşa Medical Faculty, Prof. Dr. With the support of Özgür Kasapçopur and the famous actor Yiğit Kirazcı, the project draws attention to how early diagnosis of rare diseases makes a difference in the lives of patients.
Rheumatism in children can occur at any age.
Diseases that affect 5 or less of 10,000 people in the community are considered rare diseases by the European Union. There are approximately 6,000 to 8,000 rare diseases affecting 350 million people worldwide. It is estimated that approximately 6 million people in Turkey have a rare disease. In childhood, “rare” diseases can occur in addition to many known main diseases. All of these diseases are defined as rare or orphan diseases. A significant number of rare diseases are in the field of pediatric rheumatology.
Stating that rheumatism can be seen in children at any age, Prof. Dr. Seza Özen, “Rheumatic diseases can affect all organ systems in the body. If such diseases are not treated, they can lead to serious, sometimes permanent damage and deterioration in quality of life. Autoinflammatory diseases are among the rare rheumatological diseases seen in children. Emphasizing that these diseases are diseases characterized by fever, skin rash, abdominal pain, joint and internal organ involvement, Prof. Dr. Özen underlined the importance of raising awareness about these diseases, noting that these diseases affect life negatively if they are not treated.
Early diagnosis saves lives
Juvenile Idiopathic Arthritis (JIA) is the most common rheumatological disease of childhood (0-16 years). Although Systemic Juvenile Idiopathic Arthritis (SJIA), the most severe form of JIA, often tends to start in children aged 5 years and younger, it can be seen in children of all age groups. Recurrent and uncontrollable bouts of fever, red rash, and severe joint involvement are among the most common symptoms of SJIA. The severity and course of the disease can vary. SJIA is a disease that can be treated if it is diagnosed in time and the patient is taken under control in a good pediatric rheumatology center. In the treatment of the disease, long-acting drugs are applied in addition to anti-inflammatory drugs.
Cryopyrin-Associated Periodic Syndrome (CAPS), one of the autoinflammatory diseases, is also a genetic and rare disease. CAPS presents with rashes accompanying recurrent fever. It can be diagnosed late because its symptoms are similar to other diseases and it is very rare. In advanced stages, it can lead to problems such as hearing loss, chronic meningitis and damaging joint inflammation. When diagnosed in time, treatment is possible.
Raising awareness is very important
Rare diseases that usually affect children can cause significant problems if not diagnosed early. Stating that the symptoms of rare diseases are often similar to the symptoms of common diseases, it becomes difficult to diagnose and they are often misdiagnosed. Dr. Kasapçopur said, “Early diagnosis, correct and effective treatment are critical to prevent possible disability and life-threatening injuries in children. It is very important to carry out projects in cooperation with physicians and patient associations in order to increase individual and social awareness about rare diseases.”
Rare diseases awareness project from Novartis
Awareness film “Catch Life with Early Diagnosis in Rare Diseases” was prepared by the Pediatric Rheumatology Association in cooperation with Novartis, to draw attention to the difficult journey of individuals with rare diseases in Turkey, to be with their families and to raise awareness in the society, within the scope of 28 February World Rare Diseases Day. Starring the famous actor Yiğit Kirazcı, the film draws attention to how early diagnosis of rare diseases makes a difference in the lives of patients. By presenting short sections from the lives of these characters, Kirazcı underlines that they can continue their daily lives with early diagnosis and the right treatment. People with rare diseases who are diagnosed at an early age and do not delay their treatment can continue their lives as usual and direct their lives as they wish.
Source: (BHA) – Beyaz News Agency
