What are Rare Diseases? The definition of a rare disease varies geographically. For example, in India, a disease is considered rare if it affects one in 5,000 people. In general, a rare disease is any disease that affects a small percentage of the population of a given country- fewer than 100 patients per 100,000 population. In the United States, a rare disease is defined as a condition affecting fewer than 200,000 people (one in every 1,500 Americans). There is also a term, ultra-rare disease, which is the rarest of the rare diseases. An ultra-rare disease is described as one that affects fewer than 2 patients per 100,000 population. Scroll down as Dr Raju Khubchandani - Senior Consultant Paediatric Rheumatology at SRCC Children's Hospital managed by Narayana Health, Mumbai shares more information about rare diseases.
When is World Rare Disease Day observed?
World Rare Disease Day was first observed on February 29, 2008—a “rare” date, as it fell in a leap year. This date was chosen to emphasize the rarity of these diseases, which affect only a small percentage of the population. Since then, Rare Disease Day has been observed annually on February 28th, the last day of February and in leap years on February 29th.
Which are the commonest forms of Rare Disease?
As per Dr Khubchandani, "Approximately 70% of rare diseases are genetic disorders, with rheumatologic conditions following closely behind. However, some rheumatologic diseases also have a genetic basis, highlighting the crucial role of genetics in the development of rare diseases. These conditions often follow specific patterns of inheritance and frequently present as syndromes, affecting multiple organ systems. Notably, unlike more common diseases, rare diseases typically manifest in a younger population."
Also Read: Government Plans Duty Cuts On Rare Disease And Cancer Drugs To Relieve Patient Burden
Are rheumatology diseases classified as rare diseases?
The most common illnesses which Rheumatologists deal with on a daily basis are as follow: JIA, JDM, scleroderma, various inflammations of the vessels called vasculitis. They are all considered to be rare diseases.
When asked about what is ‘guesstimate’ of the number of Rare Diseases of the children afflicted with Rare Diseases in India, Dr Khubchandani answers, "There are approximately 450 reported rare diseases in India. However, this is most likely an underestimation, as many cases remain undiagnosed or unreported. Globally, around 7000 rare diseases have been reported."
What are the diagnostic problems that children with Rare Rheumatologic Diseases face in India?
The three main challenges in addressing rare diseases are awareness, accessibility, and affordability. Many healthcare providers are unfamiliar with rare diseases, leading to a prolonged diagnostic odyssey as they struggle to identify the condition. During this process, they may consider diagnostic possibilities, but confirming their suspicion often requires specialized tests, which can be prohibitively expensive for some families. Even if these financial and logistical hurdles are overcome, patients may still face the unavailability of a treatment. However, diagnosis can still be helpful in planning future pregnancies for genetic disorders.
Also Read: Common Genetic Disorders And Their Treatment
Treatment-related problems that children with Rare Rheumatologic Diseases face in India
Many rare rheumatologic diseases are chronic, meaning patients face a lifelong journey of follow-ups and ongoing care. This poses a significant challenge in India, where centers of excellence are primarily located in metropolitan cities, making travel a major burden for patients with rare diseases. Additionally, these patients require regular testing to monitor the progression of the disease. Finally, patients require medication on a continuous basis. All these problems add to the logistical and financial burdens of a chronic disease. However, there is a silver lining on the cloud, some diseases can be followed up with telemedicine.
How could we spread awareness about Rare Diseases in our country?
"Whatever small the army of people who are aware of these rare diseases in their own medical specialties might be, must spread the word of it. We also must look to invert the pyramid, meaning that it should not be sub-specialists only who raise awareness of a diagnosis of rare diseases. Rather it must be general practitioners who are aware of the existence of these diseases and ready to refer patients as needed. Marriage amongst family, also known as consanguineous marriage, is an important cause of genetic diseases. Awareness about this should be spread," quotes Dr Khubchandani.
Does India have a Rare Disease policy?
On paper, the Ministry of Health and Family first introduced the Policy for Treatment of Rare Diseases in July 2017. However, its full implementation continues to face significant challenges, as such policies cannot be enforced overnight. Many healthcare providers remain unaware of its existence, limiting its effectiveness. Another major limitation is the lack of a clear definition of which conditions qualify for financial aid and to what extent government support will be provided. To address these issues in a more practical and applicable manner, the policy was revised in 2021. However, there is still a long way to go before it makes a substantial impact on patients’ lives.
What is the outcome of some of these Rare Diseases, and are they always fatal or lead to handicap?
It is not always the case. But many of them are indeed challenging. There are some rare diseases that do have treatment- ranging from basic, elementary treatment to highly specialized and expensive treatment. In certain cases, with proper treatment, we could see satisfying outcomes. However, we have to admit that this is the case for only a fraction of rare diseases. On the other hand, as rheumatologists, we are fortunate to be able to offer patients a good quality of life, even if a cure is not available. We often promise our patients control but not cure.
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