February 28th, 2019 is International Rare Disease Day. It is held on the last day of February every year to raise awareness about rare diseases.
Do you remember the Bollywood movie “Paa” in which Amitabh Bachchan (a 12-year-old child) suffers from a condition known as progeria? Progeria is a rare disease which is a genetic disorder that causes kids to age rapidly.
Progeria is just one of the many rare diseases affecting numerous people all over the world. Globally, around 5000 to 8000 rare diseases have been identified which affect approximately 6 to 8% of the overall population[1].
Rare diseases, as the name suggests, is a condition that affects a relatively small percentage of a population. Fewer than 10% of the people with these conditions receive disease-specific treatment[1]. Delayed diagnosis, limited access to resources, and absence of specific treatment options are responsible for not receiving proper care for these diseases. The extensively high treatment cost not only causes emotional strain but also a financial strain on the families. In this article, we will be explaining in detail about rare diseases and list certain rare diseases in India.
What Is A Rare Disease?
The definition of the rare disease varies from country to country and is usually based on the prevalence which ranges from 1 in 1000 to 1 in 500,000[1]. However, the World Health Organization (WHO) defines rare disease as a disease or condition with a prevalence of less than or equal to 1 in 1000 population. A disease can be rare in a region but may be very common in another region, for example, IgA nephropathy is common in Asia and Africa, but rare in the European Union.
Although rare diseases affect few people but are known to exert a significant impact on the overall public health. Moreover, rare diseases are indeed not so rare, especially in countries with a high population as the prevalence rate is high.
Here are a few statistics[2] about rare diseases everyone should know
– Around 80% of cases of rare diseases have a genetic origin.
– About 50-70% of patients suffering from rare diseases are children.
– Around 30% of patients with rare diseases die before the age of five.
– Although there are 7000 – 8000 rare diseases identified, not more than 300 treatment options are currently available. About 95% of rare diseases have no approved treatment[3].
-Rare diseases are categorized into several groups such as metabolic disorders, neuromuscular disorders, blood disorders, autoimmune diseases, skin diseases, etc.
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Rare Diseases In India
According to a 2017 study published in the Indian Journal of Pharmacology[4], approximately 450 rare diseases have been identified in India. Moreover, as per the 2011 national population census data, it is estimated that the rare disease and disorder population in the country was 72,611,605. Here is a list of some rare diseases in India.
Hemophilia: Also known as the “Royal disease”, it is a rare genetic disorder in which the blood fails to clot due to the lack of blood clotting factors.
Thalassemia: It is a blood disorder in which the body produces abnormal hemoglobin which in turn destroys the red blood cells leading to anemia. It is a genetic disorder.
Sickle-cell Anaemia: An inherited disease, sickle cell anemia causes the red blood cells to become rigid and sticky and shaped like sickles which affect the oxygen-carrying capacity and thus, anemia.
Auto-immune diseases: It comprises of a broad-spectrum of diseases in which the immune cells attack the healthy cells. Some of the common autoimmune diseases are lupus, multiple sclerosis, Sjogren’s disease, celiac disease, etc.
Gaucher’s disease: It is a genetic condition which is resulted due to a deficiency of an enzyme that breaks down fat thus affecting the metabolism of fats and causing accumulation of fats in the cells and organs.
Hemangiomas: These are noncancerous growths that are made up of blood vessels. It can occur throughout the body and in rare cases can become cancerous. It is usually seen in infants.
Rare Diseases: Few Facts YOU Should Be Aware Of!
– In most cases, rare diseases are detected around six months after childbirth. Hence, it is the responsibility of the parents to look for developmental cues during the growing years of the children. These include signs such as facial features, the mobility of the limbs, developmental milestones, etc.
– It goes without saying that rare diseases are difficult to diagnose and hence, it is important to consult the right doctor and get tests done at reliable centers which can help in early diagnosis. You can even read more information about the tests and diseases online to opt for the right process.
– If you already have a child with a rare disease and are planning for a second child, then it is important to go for genetic counseling and tests. This is because it can help you to know the risk of any rare genetic condition that can be passed onto the second child.
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– One of the key risk factors for rare diseases is consanguinity (which is marrying within the extended family). This can cause inbreeding and hence, the chances of passing down the abnormal genes are extremely high. This, in turn, can increase the risk of rare diseases. Hence, to lower the risk of rare diseases it is best to avoid consanguineous marriages.
– Most people believe that rare diseases are often associated with mental retardation or affect only mental health. However, it is not true. There are conditions that can cause physical abnormalities and also affect metabolism. So rather than treating it as a curse or a mental health condition, consult a doctor to get the right help at the right time to improve the quality of life.
– As the number of people suffering from rare diseases is relatively small, not many drug manufacturing companies come forward to develop the drugs. This is the reason, these diseases are also called as ‘orphan diseases’ and the drugs used to treat them are known as “orphan drugs”.
(The article is reviewed by Dr. Lalit Kanodia, General Physician)
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References:
1. Dharssi S, Wong-Rieger D, Harold M, Terry S. Review of 11 national policies for rare diseases in the context of key patient needs. Orphanet J Rare Dis. 2017 Mar 31;12(1):63.
2. Derayeh S, Kazemi A, Rabiei R, et al. National information system for rare diseases with an approach to data architecture: A systematic review. Intractable Rare Dis Res. 2018 Aug;7(3):156-163.
3. National Policy For Treatment Of Rare Diseases. Ministry of Health and Family Welfare Government of India.
4. Dharssi S, Wong-Rieger D, Harold M, Terry S. Review of 11 national policies for rare diseases in the context of key patient needs. Orphanet J Rare Dis. 2017 Mar 31;12(1):63.