On February 28, we celebrate World Rare Disease Day. A day when we pay special attention to people with rare and ultra-rare diseases and their situation. In Poland, it is only recently that we can talk about the emerging systemic changes that are designed to have a real impact on the situation of patients.
The campaign “Life with a rare disease” combines the voices of patients with the statements of experts. It presents a broad view of rare diseases and the current situation of patients against the background of the system. Substantive articles were created with the support of specialists, and are a reliable source of knowledge about selected rare diseases, their prevention, treatment and diagnostics.
The following topics appear in the campaign:
Narcolepsy – Innovative treatment as a chance for patients
Narcolepsy is a disabling disease. Although the patient is physically healthy, sudden sleep, cataplexy or sleep hallucinations limit functioning. Thanks to modern therapy, patients have a chance for a better quality of life.
Substantive support in this topic was provided by:
Dr. Aleksandra Wierzbicka, MD, PhD, Department of Clinical Neurophysiology and Sleep Medicine Center, Institute of Psychiatry and Neurology in Warsaw
MIELOFIBROZA – Access to modern therapies
Myelofibrosis may be asymptomatic, and when they do appear they are very nonspecific. The key to detecting the disease is careful medical history.
Substantive support on this subject was provided by:
Prof. dr hab. n. med. Joanna Góra-Tybor, head of the Department of Hematooncology at WWCOiT M. Kopernika in Łódź
· Katarzyna Lisowska, Representative of the Hematooncology Association
HONEY-DISPLASTIC TEAMS
For patients with myelodysplastic syndromes, drugs that make them have fewer transfusions or become completely independent of them are extremely important. Although blood is a life-saving drug for them, due to complications resulting from systematic transfusions, such therapy shortens survival.
Substantive support on this subject was provided by:
Bożena Katarzyna Budziszewska, MD, PhD Hematologist, head of the Department of Hematology Diagnostics at the Institute of Hematology and Transfusion Medicine in Warsaw, provincial consultant in the field of hematology for the province. Mazowiecki
GENETIC STUDIES IN RARE DISEASES
Thanks to the availability of modern therapies in the treatment of rare diseases, quick diagnosis becomes essential. Already at the planning stage of pregnancy, partners may consider genetic testing. Knowing the risk of rare diseases enables you to make informed reproductive decisions. Substantive support in this topic was provided by:
· Dr hab. n. med. Maria Jędrzejowska Clinical genetics specialist, neurologist, Genetic Clinic NZOZ Genomed
RARE AND ULTRASIDE DISEASES
Only about 5% of more than 7000 rare and ultra-rare diseases have treatment. Access to specialist consultations and appropriate medical and psychological care are crucial for patients and their families.
Substantive support in this topic was provided by:
Teresa Matulka, President of the Association of People with Mucopolysaccharidosis and Rare Diseases
MARFAN SYNDROME – ANOTHESIA GROWS IN SILENCE
The cause of sudden death in Marfan syndrome, and often the first diagnostic element is a ruptured aortic aneurysm. People suffering from this rare disease often do not see about it. They function normally, going to work, practicing various types of sports. A silently developing aneurysm makes itself felt when you least expect it.
Substantive support in this topic was provided by:
· Małgorzata Krówka, pedagogue, pre-school education teacher. A ward from an early age – currently a board member of the Marfan Polska Association
The editors recommend reading all articles that are part of the campaign “Life with a rare disease – every patient is important” available on the portal https://pacjentilekarz.pl/.