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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