Rare diseases affect only a small number of people in society but pose significant challenges for individuals and their families. The term "rare diseases" varies by country, but in Europe, it is used for diseases with a prevalence of less than 1 in 2,000. Globally, approximately 300 million people live with one of over 7,000 rare diseases. Most of these diseases are genetic and have complex diagnosis and treatment processes.
Every year, the last day of February is observed as Rare Disease Day worldwide. This special day aims to give a voice to individuals with rare diseases, raise awareness, and encourage medical research. Initiated in 2008 by the European Organization for Rare Diseases (EURORDIS), this event has since grown into a global movement.
Common Rare Diseases
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Duchenne Muscular Dystrophy (DMD)
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Cystic Fibrosis
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Gaucher Disease
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Huntington's Disease
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Marfan Syndrome
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Ehlers-Danlos Syndrome
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Phenylketonuria (PKU)
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Spinal Muscular Atrophy (SMA)
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Prader-Willi Syndrome
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Angelman Syndrome
Challenges in Coping with Rare Diseases
Delayed and Difficult Diagnosis: Due to a lack of information about rare diseases, it can take years to diagnose patients.
Lack of Effective Treatments: There are no specific treatments for many rare diseases.
High Treatment Costs: The treatment processes are expensive, and many patients have limited access to these services.
Lack of Awareness: A lack of public awareness and knowledge about rare diseases can lead to social isolation for affected individuals.
Relationship with Nutrition
Nutrition plays an important role in managing rare diseases. Special dietary programs can improve the quality of life for patients with certain rare conditions:
Phenylketonuria (PKU): Individuals with this disease must avoid foods containing phenylalanine.
Cystic Fibrosis: Due to absorption issues, high-calorie and low carbohydrate diets are recommended.
Gaucher Disease: Special nutrition may be needed to reduce fat accumulation in the liver and spleen.
Prader-Willi Syndrome: Low-calorie diets are necessary to control excessive appetite.
Glut1 Deficiency Syndrome: A ketogenic diet is recommended to support brain function.
Although dietary adjustments alone are not sufficient for treating rare diseases, they are most essential supportive factor in maintaining a healthy life. Personalized diet plans can be created under the guidance of nutritionists and doctors.
The Importance of Awareness and Solidarity
Rare Disease Day is an important awareness event that brings together not only patients but also their families, healthcare professionals, researchers, and policymakers. Seminars, social media campaigns, walks, and fundraising events held on this day play a crucial role in increasing the visibility of rare diseases.
As individuals, we can contribute to this awareness in the following ways:
Educate and Inform: Learning more about rare diseases and sharing this knowledge with others can help raise awareness.
Support Patients and Their Families: Being more sensitive and understanding towards individuals struggling with rare diseases is essential.
Contribute to Research: Donating or collaborating with relevant organizations can help develop new treatments.
Conclusion
Although rare diseases may seem to affect only a small number of people, they represent a lifelong struggle for the individuals and families involved. Raising awareness, supporting research, and standing in solidarity with patients are responsibilities we all share as a society. The last day of February is a time to raise our voices and show our support for those fighting rare diseases.
