**1. Introduction**

A rare disease is so called because its frequency in any given population is very low [1]. There are about 7000 rare diseases that have been discovered, and more are being described in medical literature. Rare diseases have different causes, and about 80% of them have a genetic basis that could be chromosomal or genomic [2]. Rare diseases also include certain rare infections, cancers, and even autoimmune disorders. A rare disease is defined differently in individual countries and is based on the following parameters:


The USA defines a rare disease as a condition that affects less than 200,000 people. The definition of rare diseases as is defined in the USA was coined in the Congress during the Orphan Drug Act of 1983. Such diseases also came to be known as Orphan Diseases as drug companies were indifferent to adopting the research and manufacture of novel drugs for their treatment [2, 3]. The World Health Organization defines a rare disease as a disease with a frequency of less than 6.5–10 per 10,000 people. In Europe, it is defined as a disease seen in less than 5 of every 10,000 people, while in Australia, it is taken as one in 10,000 individuals, and in India, it is taken as one in 5000 individuals [4, 5].

A rare disease in isolation may affect a small population because of which clinicians are not aware of the disease and their symptoms, hence such individuals remain undiagnosed and untreated [1, 6, 7]. Although individually these disorders are rare, when taken together the people affected with rare diseases constitute a large population of the country. Such diseases are debilitating and without a proper diagnosis may cause gross morbidity and mortality, thereby posing a challenge to the healthcare system of the country [8]. A rare disease has an adverse impact on the everyday lives of the whole family and their care givers [9–12]. The cost of treatment/management is high and causes considerable financial burden to the individuals and their families [8, 11, 12], as there is a lack of Government policies regarding this aspect, hindering their treatment.

#### **2. Advocacy groups**

Since several rare diseases are being diagnosed and brought into light, it is required that more time and effort should go into research for understanding and preventing such diseases. A remarkable and unique aspect of rare disease treatment and management is the evolving role of advocacy groups and their collaborative partnerships with scientists studying such diseases, pharmaceutical companies developing drugs, and Government officials and policy makers overseeing medical research and health care [3, 6]. Rare disease advocacy groups have played a vital role over the years in the adoption of public policies, relocation of available research funding, and other factors affecting the research for rare diseases [1, 7]. In most settings, the rare disease advocacy groups are created by the family members of the affected individuals. They are the ones who look into the formation of public policies, help fast-track treatment approvals by regulatory bodies, and facilitate the welfare of individuals and their care givers.

The National Organization for Rare Disorders (NORD) in the USA was one of the first advocacy groups to be formed, followed by Rare Diseases International, which is a global alliance of patients with rare diseases across various nationalities and is dedicated for supporting treatment and formulating policies for rare disorders. Apart from these, patient advocacy groups have been formed all over the world, which individually or in alliance help to alleviate the various problems faced by individuals with rare diseases and to pressurize companies and countries to provide life-saving drugs and at a reasonable cost.

*Rare Disease Advocacy Groups and Their Significance in Diagnosis, Management, Treatment… DOI: http://dx.doi.org/10.5772/intechopen.88630*

## **3. Patient advocacy groups in India**

There are many patient advocacy groups currently active in India. The Pompe Foundation started by Mr. Prasanna Shirol in 2008 and caters to individuals and families affected with Lysosomal Storage Disorders. The Metabolic Errors and Rare Diseases Organization of India (MERD), founded by Mr. Vikas Bhat, promotes awareness regarding Inborn Errors of Metabolism and newborn screening. Both these organizations have been founded by parents having an affected child. There are a few other advocacy groups for Spinal Muscular Atrophy (SMA), Spino-Cerebellar Ataxia (SCA), Duchenne Muscular Dystrophy (DMD), and Osteogenesis Imperfecta. Twenty-five such organizations together joined hands to form the Organization for Rare Diseases India (ORDI), which is actively involved in helping patients and their families through the involvement of NGOs. These advocacy groups, however, need to be better organized, so that they can obtain and disseminate information about diseases, diagnostics, and treatment avenues to the affected families.

India has a huge diversity in the kind of rare diseases seen in different states, which can be attributed to certain cultural practices such as consanguinity in South India and endogamy in the North [13]. Based on the data from these organizations, a Rare Disease Registry has been initiated. This has helped in re-classifying rare diseases based on their prevalence in different states. Diseases like β-thalassemia are more prevalent in Punjab, Gujarat, West Bengal, Odisha, and Andhra Pradesh but are rare in other states [14, 15]; hence, they cannot be classified under rare diseases in these states. Similarly, house-to-house survey carried out by Molecular Diagnostics, Counseling, Care and Research Center (MDCRC) Coimbatore estimates that the prevalence of Duchenne Muscular Dystrophy in Tamil Nadu is high and cannot come under a rare disorder in that state [16]. Gradually, such data need to be combined, so that advocacy groups can focus their efforts on rare diseases and would help in developing a comprehensive and factual National registry, which would further aid in framing the National Policy for Rare Diseases [17, 18].

#### **4. Multi-specialty hospital-based advocacy group**

In this chapter, we would like to highlight our study that was to evaluate the feasibility of initiating an advocacy group for rare diseases in a multi-specialty hospital setting with the support of the Department of Genetics and Molecular Medicine. The genetic counselors were instrumental in liaising between different departments such as pediatrics, nephrology, neurology, orthopedics, and oncology for the identification of patients with suspected rare disease. Around 200 such patients were identified during the period of April 2016 to April 2019. The patient families were encouraged to register with the advocacy group, which would support and follow-up the patient and their families and provide the necessary management and treatment options as required.

Patients evaluated were identified and categorized based on age into the pediatric and the adult age group. About 63% of the patients were in the pediatric age group, and the remaining 37% were in the adult age group.

#### **4.1 Rare disease advocacy group at Kamineni Hospital**

To cater to patients affected with such diverse diseases, the first hospital-based advocacy group was created at Kamineni Hospital, a multi-specialty hospital located in the cosmopolitan city of Hyderabad in South India. It was named Maitri, which originates from the Sanskrit word meaning "friendship." Maitri looks into the collective interests of individuals with rare diseases. The rare disease community is often denied the most basic of rights. Society is ill-equipped to understand the cause and gravity of the diseases. This often leads to a number of psychological problems. A diagnosis is important to understand a disease, its progression, symptoms, possible treatment options, and also for its prevention in future generations. Most individuals can lead a normal life. However, due to the lack of awareness, such individuals are not allowed to do so. People in general lack the sensitivity to accept and work alongside individuals suffering from such diseases. Maitri aims to change this scenario by raising awareness among clinicians, the general public, in schools, and colleges. It also looks into extended family screening and counseling for making informed reproductive decisions.
