Rare Disease Day

February 28, 2023

Parents of a 4-year-old boy are anxious again. It is time for their son to receive his monthly blood transfusion. He has been receiving these transfusions every month from the age of eight months. He was diagnosed with beta thalassemia, a rare genetic blood disorder due to abnormal hemoglobin, necessitating frequent blood transfusions. Thalassemia and many such conditions which affect only small part of the population are called ‘rare diseases’. This is in contrast to more common disease like diabetes which affect large number of individuals and hence are well known among general public, most doctors are trained to diagnose and treat them, testing is simple and several treatments are available for them.

What are rare diseases and why are they called ‘rare’?

Different countries have varied definition of what they call as ‘rare disorders’. According to Indian Council of Medical Research, rare diseases are those which affect fewer than 1 in 2500 individuals. They are sometimes also termed as ‘orphan diseases’. More than 7000 rare diseases are known, and most of them have a genetic cause. Although individually each of these diseases are rare, collectively they affect a significant number of people across the globe. Rare diseases usually come with long term disability or early mortality. Nearly half of these diseases occur in children and can lead to death and long term disability in many of them. The rarity of these diseases brings a number of challenges for individuals with these diseases. In order to raise the awareness and also improve access to treatment and representation for individuals with rare diseases, rare disease day is observed on the last day of February.

What are the challenges faced by families with rare diseases?

Rare diseases come with significant challenges to the affected families, the medical community and also to the government. Often, they lead to emotional, physical, psychological and economic burden to both affected individuals and their caretakers. Families with rare diseases usually undergo series of tests, imaging, varied specialist consultation and are often misdiagnosed. The diagnosis is usually delayed. Certain rare diseases may have implication for other family members as well. Management of these diseases are different in comparison to other disorders. Whereas more and more therapies are getting available or are under trials, others can be prevented by prenatal diagnosis. Although, the cost of many of these treatments are prohibitive and require lifelong administration, the scenario is expected to change. Medicines that are used to treat orphan diseases are called ‘orphan drugs’. Since only few people use these medicines, they are not profitable to the pharmaceutical companies. To promote development and manufacturing of these medicines, government has provided certain incentives to pharmaceutical companies.

What are the challenges faced by doctors managing families with rare diseases?

Among the medical community also, not many doctors are aware of these vast group of diseases. The rarity of these diseases make them difficult to suspect and diagnose. The introduction of genetic tests like exome sequencing has greatly facilitated rare disease diagnosis, however, only half of the individuals will receive diagnosis. Since very few individuals are studied and reported, future course of many diseases is poorly understood. Counselling these families is a challenge as many questions that the family wishes to know may remain unanswered or partially answered.

How is the government providing support to families with rare diseases?

The diagnosis and especially the treatment costs of these rare diseases are huge, making them a major public health burden. Government of India under the ‘National policy for rare disease, 2021’ has proposed preventive measures and setting up of centres of excellence and Nidan Kendras across India to facilitate diagnosis, prevention and treatment of rare diseases. These centres would also be involved in education, training and research in rare diseases. Apart from this, financial assistance and free treatment is provided. To encourage development and research into developing treatment for these diseases, the ‘Drug and Clinical Trial Rule’ of 2019 is a small step by Government of India in this aspect.

How can we make life of families with rare diseases better?

Creating awareness among general public and among the medical fraternity is the need of the hour. Awareness is also necessary about the government schemes that are available so that eligible families may avail these benefits. Only when improved awareness, affected individuals will seek genetic services and prompt referral will occur. Early and accurate diagnosis is vital for rare diseases. This will end the diagnostic odyssey for these families, inform them about the cause of the disease, provide them with treatment options when available and also enable parents to understand the risk of recurrence and opt for prenatal testing in their subsequent pregnancies.

Families can be directed to get involved in many patient support groups in India and abroad that work towards the cause of rare disease. Organizations like ORDI, Metabolic Diseases and Rare Diseases Organization of India and many others play an important role in creating awareness and expressing opinions of the group to the public and government, which aid in policy making. Doctors and counsellors also are a part of these support groups. They frequently conduct conferences and patient interactions to educate, share and update the current knowledge about these diseases.

What are few misconceptions related to rare diseases?

There are many misconceptions around rare diseases that hinder their early presentation and referral. Beliefs like ‘all rare diseases are not treatable’, ‘family history of some disease must be present to have another member with rare disease’, ‘ultrasound scan in pregnancy can detect all rare diseases’ are incorrect. Treatment options are increasing and this will benefit many. A rare disease can occur in a family with no prior history. Ultrasound scan in pregnancy can pick up only a few rare disorders and majority of them will appear normal on the scan.

What are the services available to Kasturba Hospital, Manipal with regard to rare diseases?

The Department of Medical Genetics has an expert and experienced team of doctors and scientists that provide detailed evaluation, testing and management of families with rare diseases. Genetic counselling is provided to all families before and after testing. Both invasive and non-invasive prenatal testing is offered to families so that they can take informed decisions in their subsequent pregnancies.

‘Leaving no one behind’ is the central, transformative promise of the 2030 agenda of the United Nations sustainable developmental goals. Let us join hands on this world rare disease day and reiterate to the families that they are not alone and they will not be left behind. The disease may be rare, but the hope and care isn’t.

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For Feedback and queries, please send an email to: marketing.kh@manipal.edu or call +91 820 2922686.



By Dr Vivekanada Bhat
Dr Vivekananda Bhat is an assistant professor in Department of Medical Genetics at Kasturba Hospital, Manipal.
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Comment on this article

  • Rudolf Rodrigues, Mumbai

    Thu, Mar 02 2023

    Very informative post,doc,to even those in the medical profession! As you opine, patients are made to run from one specialty to another before some expert in genetic disorders gives the correct diagnosis! Recently, same type of episode happened with a small Kerala boy who was finally diagnosed as having SMA, which requires a injection that costs 18 crores/shot, namely "Zolgensma"! Fortunately, for the family one single unknown donor sent ₹11 crores and the jab was ordered from the US! The child is undergoing treatment at Hinduja hospital, Mumbai where supposedly 60+ children have been treated for the same disorder! Thanks for enlightening the general public and medical fraternity too on the topic of orphan diseases!

  • Daniel, Mangalore

    Wed, Mar 01 2023

    Modern medicine was initially only a part cure and was designed for life long enslavement (like our life long BP, Sugar, cholestrol... medicines) ? An eye opener article on evolution of Modern Medicine on Costarica news dated April 1 2022 titled... "How Rockefeller Founded Modern Medicine and Eliminated Natural Cures" as follows... In many parts of the planet it is frowned upon to speak or believe in the healing properties of plants or any other holistic practice. Just like anything else, there is politics and money behind today’s modern medical system. It all started with Rockefeller, who was an oil tycoon, a robber baron, America’s first billionaire, and a born monopolist. ///// In the early 20th century, John D. Rockefeller (1839 – 1937) controlled 90% of all oil refineries in the US through his oil company, Standard Oil, which later spun off to become Chevron, Exxon, Mobile, etc. //// THE EVOLUTION OF STANDARD OIL //// At the same time, around 1900, scientists discovered “petrochemicals” and the ability to create all kinds of chemicals from oil. For example, the first plastic, called Bakelite, was made from petroleum in 1907. Scientists were also discovering various vitamins and surmised that many pharmaceutical drugs could be made from petroleum. This was a wonderful opportunity for Rockefeller. He saw the ability to monopolize the oil, chemical, and medical industries at the same time. ///// The great thing about petrochemicals was that everything could be patented and sold for huge profits. But there was a problem with Rockefeller’s plan for the medical industry: At the time, natural herbal medicines were very popular in the United States. Nearly half of the doctors and medical schools in the US practiced holistic medicine, using knowledge from Europe and Native Americans ///// Rockefeller, the monopolist, had to find a way to get rid of his biggest competition. So he used the classic “problem-reaction-solution” strategy. That is, create a problem and scare people, and then offer a (pre-planned) solution. Similar to the fear of terrorism, followed by the “Patriot Act”. ///// He went to his friend Andrew Carnegie, another plutocrat who made his money by monopolizing the steel industry, who came up with a plan. From the prestigious Carnegie Foundation, they sent a man named Abraham Flexner to travel around the country and report on the state of medical schools and hospitals across the country. ///// This led to the Flexner Report, which gave rise to modern medicine as we know it. The report spoke of the need to modernize and centralize our medical institutions. According to him, more than half of all medical schools were closed early. Homeopathy and natural medicines were mocked and demonized; and doctors were even jailed. ///// To help with the transition and change the mindset of other doctors and scientists, Rockefeller donated more than $100 million to universities and hospitals and founded a philanthropic front group called the General Education Board (GEB). This is the classic carrot and stick approach. ///// In a very short time, all medical schools were rationalized and homogenized. All the students were learning the same thing, and medicine was about using patent medicines. //// Scientists received large grants to study how plants cured diseases. However, his goal was to first identify which chemicals in the plant were effective, and then recreate a similar, but not identical, chemical in the lab that could be patented. ///// A PILL FOR A SICK PERSON BECAME THE MANTRA OF MODERN MEDICINE ///// Now, 100 years later, we are producing doctors who know nothing about the benefits of nutrition, herbs, or any holistic practice. An entire society is enslaved by corporations for its well-being. ///// The United States spends 15% of its GDP on health care, which should really be called “sick care.” It does not focus on the cure, but only on the symptoms, thus creating repeat customers. There is no cure for cancer, diabetes, autism, asthma, or even the flu. ///// WHY WOULD THERE BE REAL CURES? ///// This is a system founded by oligarchs and plutocrats, not doctors. As for cancer, the American Cancer Society was founded by Rockefeller himself in 1913. It’s sad to know how brainwashed breast cancer awareness is about chemotherapy, radiation, and surgery. Here is a quote from John D. Rockefeller that sums up his vision for America: “I don’t want a nation of thinkers. I want a nation of workers.” Ref: https://thecostaricanews.com/how-rockefeller-founded-modern-medicine-and-eliminated-natural-cures/

  • Daniel, Mangalore

    Tue, Feb 28 2023

    Vaccines are major contributors for rare diseases ? Following on how? "Top Merck Scientist Admits That Polio Vaccines Contained Leukemia, SV40, And Cancer Viruses. In this 1987 interview one of the most prominent vaccine scientists in the history of the vaccine industry Dr. Maurice Hilleman a Merck scientist made a recording where he openly admits that vaccines given to Americans were contaminated with leukemia and cancer viruses. In response, his colleagues (who are also recorded here) break out into laughter and seem to think it's hilarious. They then suggest that because these vaccines are first tested in Russia, they will help the U.S. win the Olympics because the Russian athletes will all be "loaded down with tumors." (Thus, they knew these vaccines caused cancer in humans.) This isn't some conspiracy theory - these are the words of a top Merck scientist who probably had no idea that his recording would be widely reviewed across the internet (which didn't even exist when he made this recording). He probably thought this would remain a secret forever. When asked why this didn't get out to the press, he replied: "Obviously you don't go out, this is a scientific affair within the scientific community." In other words, vaccine scientists cover for vaccine scientists. They keep all their dirty secrets within their own circle of silence and don't reveal the truth about the contamination of their vaccines. A shocking admission from the history of western medicine." Ref: https://rumble.com/v1gck83-top-merck-scientist-admits-that-polio-vaccines-contained-leukemia-sv40-and-.html

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