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Promoting awareness and understanding of genetic and rare diseases

Globally at least 7.6 million children are born annually with severe genetic or congenital malformations; 90% of these are in mid and low income countries. The higher prevalence of genetic disorders in a particular community may be due to some social and cultural factors, consanguineous marriages. Genetic diseases can vary in severity from being fatal before birth to requiring continuous disease management and their onset covers all life stages from infancy to old age causing enormous burden on families, and society. There are over 7,000 diseases considered rare.

What are rare diseases?

Rare diseases (RD) are a spectrum of diseases (and disorders) with very different etiologies, the common denominator being the infrequency of their occurrence in population, with most diseases having no defined diagnostic or treatment protocols available. Though WHO defines RD to be the disease affecting 1 (or less) in 1000 people, countries with active RD programs have different criteria for defining RD. For instance, any disease with less than 200,000 patients is considered RD in the USA, while, EU defines it as affecting 50 in 100,000 people. The EU definition takes into account population growth, but the US definition does not. 'Orphan disease', the term originally used to describe a disease with no drug availability (as in a child with no parents), is still widely used, but the terms 'rare disease' and 'ultra rare disease' (referring to rarer disease) are gaining acceptance in the scientific literature.

The principal message is that rare disorders are not a single disease entity. There are over 7000 rare diseases described in global literature. One rare disease could be rare but all rare diseases together become a significant public health problem. "Alone we are rare. Together we are strong."

How many rare diseases are there?

There are more than 7,000 rare diseases. Altogether, rare diseases affect an estimated 25 million to 30 million Americans.

What is a genetic disease?

A genetic disease is caused by a change in a person's DNA. Some genetic diseases are inherited from parents, and others are caused by new changes that occur during a person's lifetime. Most genetic diseases are considered rare because they affect fewer than 200,000 people in the United States.

What causes rare diseases?

The exact cause for many rare diseases remains unknown. Still, for a significant portion, the problem can be traced to mutations (changes) in a single gene or in multiple genes. Such diseases are referred to as rare, genetic diseases. Many of these genetic mutations can be passed on from one generation to the next, explaining why certain rare diseases run in families.

It is important to keep in mind that genetics are just one piece of the puzzle. Environmental factors, such as diet, smoking, or exposure to chemicals, also can play a role in rare diseases. Such factors may directly cause disease, or interact with genetic factors to cause or increase the severity of disease.

Where and who are the affected people?

There are varying counts of the total number of RD in the world. US National Institutes of Health lists about 7000 rare diseases (and disorders) with the list growing steadily! Not all RD have the same prevalence. For example Tetralogy of Fallot, a rare disease characterizing congenital heart defects, affects about 50 in 100,000 people, while Kapur- Toriello syndrome has been reported in only two patients worldwide. Madras motor neuron disease has a total of 157 cases in the world, of which only 5 are outside India. RD, though individually small, collectively constitute an estimated 6-10% of the total population of the world. This translates roughly into a minimum of 70 million Indians suffering from RD.

How does it concern you?

Whether it is a common disease or RD, the net outcome for the patient is suffering. RD has the additional burden of not being timely diagnosed or oftentimes going altogether unnoticed or unresolved, not to mention the dearth of available treatment options. Not only the patients, but even the treating physicians are uninformed about most RD. It is impossible for any physician to be familiar with all RD. Many a time, RD sufferers are misdiagnosed with some other overlapping common disease and subjected to unnecessary treatments including surgery. Therefore it becomes imperative for all subjects concerned with RD, such as patients, their family members, physicians and society at large to be aware of the various RD prevalent in their community.

Rare Disease Scenario in India

Globally rare disorders have enjoyed advocacy in developed countries for the past three decades. NORD (National Organization of Rare Disorders) was founded in 1983 in USA to support individuals with rare diseases by advocating and funding research, education and networking among service providers. Indian Organization of Rare Diseases (I-ORD) was founded in 2005 to harness the strengths of various service providers and advocacy groups in India and advise the Government of India on the way forward.

The common denominator of rare diseases is the infrequency of their occurrence in the human population. Often debilitating lifelong disease or disorder condition with a prevalence of 1 or less, per 1000 population is defined by the World Health Organization (WHO) as a rare disease. Yet, a few developed and developing countries have their own definition to suit their requirements. This has resulted in heterogeneity in rare disease definition and therefore consensus among nations does not exist. Nevertheless it is generally accepted that a disease having fewer than 100 patients per 100,000 population is described as rare disease and fewer than 2 patients per 100,000 is described as ultra rare disease. Ultra rare diseases are rarest of rare diseases. Rare and ultra rare diseases are sometimes referred to as orphan and ultra orphan diseases, respectively.

In India the Rare Diseases and Disorders Population is 72,611,605. In the state of West Bengal alone the population stands at 5,480,864. The figures are adapted from www.rarediseasesindia.org.

Of the several thousand, currently pegged around 7000 reported rare diseases or disorders, except for a handful, most do not have epidemiological data available. Each one of these uncommon diseases widely varies in its prevalence. Considering the sheer number of identified rare and ultra rare diseases and their varying prevalence, it becomes nearly impossible to ascertain the total number of rare (and ultra rare) disease patients in the world. However, on the basis of available prevalence data on few select rare diseases, there is a consensus of sorts that exists among the researchers about the number of total global rare disease afflicted population. Gross estimate of the number of rare or ultra rare disease patients is 6 - 8% of global population and is widely accepted by the researchers. This consensus, fortunately, allows us to fathom the situation at hand and also helps provide geographic regional estimates.

A head count for every individual rare disease may not be possible. The caveat is that the real number of rare disease affected population in the world cannot be ascertained unless the prevalence of every individual rare disease is established by systematic studies. There may be many unreported rare diseases, ultra rare diseases waiting to be described in developing countries. South Asian countries where consanguinity is prevalent may harbor unique geography-specific rare diseases and might add another dimension to the scenario. The estimated 6 - 8% population encompasses not only patients with 'diseases' but also patients with 'disorders'. A person with polydactyly (a condition of having additional digits beyond normal) is not considered to be a patient in this respect, but it is a deviation from normal yet non-debilitating and therefore it is a disorder.

Rare Disease Day is observed on the last day of February. It was first organised in Europe on February 29, 2008 by EURORDIS (a non-governmental alliance of rare disease patient organisations and individuals in Europe). It has since been joined by the U.S. NORD (a non-profit, National Organisation for Rare Disorders) and NGOs from across India.

Understanding the importance of the scenario, the Government of India, is observing a Rare Disease Day with a seminar on Rare Diseases every year in collaboration with the voluntary organisations and NGOs working in similar areas. The major impact of Rare Disease Day observance in India is the quantum of awareness it creates, especially in urban areas. However, it is a matter of concern that these occasions meant to build awareness have not yet made any tangible impact on rural rare disease masses. The large number of educated youth in India when appropriately initiated and made to join hands with NGOs working for the rare diseases cause will be able to make the consequences palpable sooner rather than latter.

What are some examples of rare diseases?

Rare Diseases can manifest in newborns or in later stages in life. Screening of Newborns has an immense potential to diagnose rare diseases manifesting in newborns many of which are treatable helping the children catch up with normal growth and development.

Rare Disorders can be

  • Infectious and parasitic diseases
  • Neoplasms and oncological diseases
  • Diseases of the blood and disorders of the immune system
  • Endocrine, nutritional and metabolic diseases
  • Behavioral disorders and diseases of the nervous system
  • Diseases of the eye and ear and craniofacial malformations
  • Diseases of the respiratory system and the digestive system
  • Diseases of the musculoskeletal system and connective tissue
  • Congenital malformations and chromosomal abnormalities

Examples of rare diseases caused by mutations in single genes include:

Cystic fibrosis, which affects the respiratory and digestive systems. Huntington disease, which affects the brain and nervous system. Certain types of muscular dystrophies, which affect the muscles.

Single genes are also responsible for some rare, inherited types of cancer. Examples of these are the BRCA1 and BRCA2 genes, in which certain mutations increase the risk for hereditary breast and ovarian cancers, and the FAP gene, in which mutations increase the risk for hereditary colon cancer.

Rare diseases related to environmental factors include uncommon types of anemia caused by vitamin-deficient diets or certain medications. A rare cancer caused by environmental factors is mesothelioma, which affects the cells lining the chest cavity. More than 90 percent of mesothelioma cases are caused by exposure to asbestos, a fibrous mineral once widely used in fireproofing and insulation materials.

What is being done to develop treatments for rare diseases?

Researchers have made considerable progress in recent years in figuring out ways to diagnose, treat and even prevent a variety of rare diseases. Still, much more remains to be done because there are no treatments for the vast majority of rare diseases.

The Orphan Drug Act of 1983 provides incentives for drug companies to develop treatments for rare diseases. In the 25 years since the Act was signed into federal law, the U.S. Food and Drug Administration (FDA) has approved more than 340 treatments for rare diseases.

NIH launched the Therapeutics for Rare and Neglected Diseases (TRND) program to create an integrated research pipeline to jump start the development of new treatments for rare and neglected disorders.

We, in India, are only now hesitantly rising up to the challenge. The existence of a handful of rare disease support groups in urban India and the publication of rare disease case reports in peer reviewed journals by the medical fraternity are encouraging. However, these fall short of their potential due to a lack of common ground - the various support groups working independent of one another and clinicians publishing case reports do not go beyond limited academic circles.

Registries of conclusively diagnosed rare disease patients are needed, as also is gathering of 'suspected' rare disease patient data. Considering the global rare disease prevalence among 6-8% of population, the rare disease cases in rural India that are almost entirely not enumerated are likely to constitute a majority of rare disease occurrences in the country. India where consanguinity (marriage among close blood relations) is prevalent might harbour unique rare disease cases. But consanguinity is not the lone contributor to rare diseases or disorders. Random gene mutations and other genetic causes could well result in rare diseases and disorders in non-consanguineous marriages.

It is challenging for any medical professional to positively identify rare diseases of their patients. Paediatricians and general physicians are more likely than other specialists to encounter rare disease patients. The lag period (time interval between the onset of symptoms and diagnosis) is usually protracted. Rare disease patients usually start with treatment for their symptoms and only when those treatments become refractory would physicians begin to explore other options, thus causing an inevitable delay in diagnosis.

We're highly specialized and therapeutically aligned

Diagnosing and treating rare diseases requires an unusually high level of specific knowledge. At Apollo Gleneagles Hospitals, Kolkata, Rare Diseases Clinic, the team of pediatricians, Developmental specialists and internists, nurses and other staffs are highly specialized in that discipline. From the people on the ground to those at the consultant level, you'll always be dealing with someone who knows exactly what you need. Our consultants have the specialist knowledge to ensure the integrity of your diagnosis and treatment.

The Rare Diseases Clinic at AGHL, Kolkata has a multidisciplinary approach lead by a senior consultant Pediatric Endocrinologist and ably supported by a team of Pediatric subspecialists. The dedicated team approaches through a detailed history taking, followed by physical examination, arriving at the differential diagnoses and then confirming the diagnosis with the help of state of the art laboratory (genetics, molecular biology, biochemistry and microbiology) services. We have got tie ups with advanced laboratories across India specializing in kayoptyping and molecular biology/genetic studies which are not available in any other part of India and may be confirmatory in arriving at a diagnosis.

Our team of doctors ably led by our Pediatric endocrinologist have successfully treated Neonatal diabetes mellitus with KCNJ 11 mutation, Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) which is the most challenging recurrent hypoglycemia in neonates and infants, Donohue Syndrome which is an autosomal recessive genetic disorder where individuals have impaired functioning of insulin receptors due to mutation of short arm of chromosome 19, osteogenesis imperfecta, Achondroplasia, hypophospatemic rickets, William's syndrome which is a neurodevelopmental disorder, Di Goerge Syndrome which is 22q11.2 deletion Syndrome, Parathyroid adenomas, Russel-Silver Syndrome which is a growth disorder, Laron's Syndrome which is an autosomal recessive disorder characterized by insensitivity to growth hormone caused by a mutant growth hormone receptor to name a few.

Apollo Gleneagles being a very large corporate super speciality hospital gets cases referred to a Paediatric Endocrinologist from a wide catchment area including North Eastern States. Most of the rare diseases treated here are of genetic origin with significant challenges in diagnosis and management. As a clinician the approach is to arrive at a clinical diagnosis obtain laboratory confirmation if available and administer treatment subject to availability and affordability of drugs. Laboratory confirmation of genetic diagnosis and drug management is exorbitantly costly. Therefore appropriate government support and initiatives from large corporate healthcare providers like AGHL are the need of the hour. It is a good news that the Govt has come forward to offer some support to those who needs the same most. At this juncture the critical areas are laboratory confirmation and availability of drugs.

We're exceptionally well connected

Because the patients in most rare disease programs are children, parents have to be involved, so strong relationships with consultants and the clinic staff is absolutely key to getting successful outcomes. We've made it our focus to develop longstanding, deep relationships with our patients/families. We also maintain close connections with nationally and internationally reputed organizations and advocacy groups working in related areas so that the patients/families get a constant support and do not get the feeling that "....we are alone."

Understanding your medical condition and your treatment options is critical to making an informed choice about your medical treatment. Our clinic staff ably guided by the highly experienced consultants will constantly help you out.

Individuals with rare medical conditions may seek emergency medical care. With a well equipped 24 X7 Emergency and ambulance services and a dedicated state of the art level 3 Neonatal Intensive Care Unit and Pediatric Intensive Care Unit, you can rest assured that your child will be in the best of hands even in emergency. Our expert team at the Clinic will help you become experts in the signs, symptoms and treatments for your child's condition, including:

  • When to seek treatment
  • The urgency of their need
  • Treatment that have been successful in the past, and
  • Treatments that have not worked

Rare Diseases: The General Scenario And How We Can Change It

'Everyone has the right to health and well-being by means of medical care and social services, and the right to security in the event of sickness and disability'. This is an excerpt from Article 25 of the UN's historic 'The Universal Declaration of Human Rights of 194'. Despite efforts by nations on health care issues, 'rare diseases' is one large area that most countries have not paid much attention to. The United States must be credited for its pioneering 'Orphan Drugs Act' of 1983 that made a ripple, minor though it may be, which led to Australia, EU, Japan and Singapore to evolve similar Acts to benefit their own rare diseases stricken population. Though the awareness is now gradually creeping up among several other countries including India, yet no such law aimed at serving the Indian community affected by rare diseases exists as on date.

The Rare Diseases Clinic in Apollo Gleneagles Hospitals is one of the first of its kind and is an earnest well organized effort to hold hands with the community suffering from such diseases. Our dedicated therapeutic team focuses on rare diseases and has unrivaled knowledge of this complex therapeutic area.

Where can people get more information about rare diseases?

You can also collect information from the Indian Organisation for Rare Diseases and Foundation for Research on Rare Diseases and Disorders at www.rarediseasesindia.org

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