World Rare Disease Day: Identification and Prevention
World Rare Disease Day: Identification and Prevention of Rare Diseases

Thu , Mar 2

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Rare diseases, childhood rare diseases, congenital diseases, and rare cancers are conditions that affect a small percentage of the population.

Despite their low prevalence, these diseases can have a significant impact on the lives of those affected and their families.

World Disease Day, observed on February 28th, is an opportunity to raise awareness about rare diseases and the importance of early detection and prevention.

There are 1000s of rare diseases and everyday new ones are being recorded in the medical literature. The cause of rare diseases in unknown, majority of them being either genetic or caused/triggered by a bacterial infection. Almost all genetic disorders are rare, but not all rare disorders are genetic. Rare disorders can be identified at early age, but it is estimated that some of the rare disorders appear into adulthood also

  • According to a report by the Indian Council of Medical Research, there are over 7,000 rare diseases in India, and an estimated 70 million people are affected by them. Additionally, congenital heart disease is the most common birth defect in India, affecting around 180,000 new-borns each year.

Identifying Rare Diseases

  • Rare diseases are often difficult to diagnose, as they can present with a wide range of symptoms that may be like other, more common conditions. In India, it is estimated that there are over 70 million people living with rare diseases, and many of them may not even know they have a rare condition.

  • One of the most significant challenges in identifying rare diseases is that healthcare professionals may not be familiar with the condition or may not have the necessary diagnostic tools. According to a study published in the Orphanet Journal of Rare Diseases, the average time to diagnosis for rare diseases in India is 7.6 years, compared to 4.8 years in Europe.

  • Early diagnosis is critical for rare diseases, as it can help to prevent further complications and provide patients with access to appropriate treatments and support. If you or someone you know is experiencing symptoms that may be related to a rare disease, it is important to seek medical attention and discuss your concerns with your healthcare provider.

Preventing Childhood Rare Diseases and Congenital Diseases

  • Childhood rare diseases and congenital diseases are conditions that are present from birth. These conditions can affect a child’s physical and mental development, and many of them have no cure. Some common childhood rare diseases include muscular dystrophy, cystic fibrosis, and sickle cell anaemia.

  • Many childhood rare diseases and congenital diseases are caused by genetic mutations or environmental factors. While it is not always possible to prevent these conditions, there are steps that parents and caregivers can take to reduce the risk of certain congenital conditions. These include:

    • Avoiding alcohol and smoking during pregnancy
    • Ensuring proper nutrition and prenatal care
    • Seeking genetic counselling if there is a family history of genetic disorders

Identifying and Treating Rare Cancers

  • Cancer is a leading cause of death worldwide, and rare cancers account for approximately 20% of all cancer cases. Rare cancers are defined as cancers that affect fewer than six people per 100,000 populations each year. Examples of rare cancers include mesothelioma, pancreatic cancer, and thyroid cancer.

  • Early detection and treatment are essential for rare cancers, as they can be more aggressive and difficult to treat than more common types of cancer. However, many rare cancers are often misdiagnosed or diagnosed at later stages due to their rarity and lack of awareness among healthcare professionals.

  • It is important to be aware of the signs and symptoms of rare cancers, such as:

    • persistent or unexplained pain,
    • lumps or growths,
    • unexplained weight loss.

    If you notice any of these symptoms, it is important to discuss them with your healthcare provider and undergo appropriate screening tests.

  • Rare diseases, childhood rare diseases, congenital diseases, and rare cancers can be devastating for those who are affected by them. However, by being aware of the signs and symptoms of these conditions and taking steps to prevent and detect them early, we can help to reduce the impact of these diseases on people’s lives.

  • According to the Indian Council of Medical Research, cancer cases are expected to rise to 15.7 lakh by 2025. Additionally, it is estimated that approximately 70% of these cases will be diagnosed at an advanced stage, making treatment more challenging.

  • By promoting awareness of rare diseases, childhood rare diseases, congenital diseases, and rare cancers, we can help to improve early diagnosis and treatment, reduce the burden on patients and their families, and ultimately save lives.

  • At MGM Healthcare, we understand the importance of early detection and prevention of rare diseases and rare cancers. Our team of expert doctors and healthcare professionals is committed to providing the highest quality of care to our patients.

  • If you or a loved one is experiencing symptoms that may be related to a rare disease or rare cancer, we encourage you to seek medical attention and discuss your concerns with our team. Together, we can work to identify and prevent these conditions, improve outcomes, and support those affected by rare diseases.

  • On this World Disease Day, let us all commit to raising awareness about rare diseases and rare cancers, and work towards a healthier and brighter future for all.