Rare Diseases in India FAQ and resources

Submitted by PatientsEngage on 31 January 2025
Stock pic of cells, the zebra ribbon signifying orphan disease and the text overlay Rare Diseases in India on a blue strip

Rare Diseases are complicated and challenging because they are rare and isolating. PatientsEngage has put together a baseline of information to get you started and some pointers for resources.

The term “rare disease” is something that immediately takes our mind to challenging scenarios and fat medical bills. While usually anything that’s rare has great value, in our medical world unfortunately it means the polar opposite. Simply put, these are conditions that are found in a very small population worldwide and we may not always have answers or treatment for them. There are about 7000 rare diseases that have been identified by researchers.

According to the World Health Organization, a rare disease is one that affects < 65/100,000 people. In the United States, a rare disease affects < 200,000 people, in the European Union it affects <50/100,000 people.

To create some perspective:
It is estimated that 3,300 persons globally, or roughly one in two million people, suffer from 
FOP [fibrodysplasia ossificans progressiva]. That is to say, if a big football stadium accommodates 100,000 people, it would take 20 football stadiums to just find one person with FOP.

Currently, there are only approximately 700 people with FOP worldwide that are on record.

What is the difference between rare and orphan diseases?

Orphan diseases include rare diseases and are the ones that researchers minimally investigating or not at all usually due to the financial burden. The terms orphan disease and rare diseases are often used interchangeably.

What are the risk factors and causes of rare diseases?

  1. Genetics: Genetic mutations are the commonest cause of rare diseases. Sometimes they may be familial or inherited from a parent (germline mutation) or sometimes it may be random (somatic mutation). This may also include birth defects. Approximately 70% of rare diseases are genetic.
  2. Toxins: Heavy metal poisoning with substances like lead, mercury, arsenic may lead to rare diseases like cancer, organ damage etc. Substances like asbestos may also cause are cancer like mesothelioma with prolonged exposure.
  3. Infections: Infections with some bacteria may cause rare life-threatening diseases like botulism, tetanus, rabies.
  4. Allergens: Conditions like water allergy, cold allergy, nickel allergy, anisakis etc.
  5. Environmental factors: Exposure to drugs like valproic acid leading to birth defects (foetal valproate syndrome), air pollution causing an increased risk of autism and MET, exposure to mould etc may also lead to rare diseases.

What are the characteristics of rare diseases:

  • More than 50% of the rare diseases are known to occur in children.
  • The diagnosis and treatment are a tedious process and may remain unknown is majority of cases.
  • There are no specialists trained to exclusively treat rare diseases.
  • Almost all rare diseases continue lifelong.
  • Many rare diseases may be progressive or life threatening.

A few common rare diseases:

  1. Multiple Sclerosis:
    It’s a rare inflammatory disease of the brain and spinal cord leading to degeneration.
    For more information see here: https://www.patientsengage.com/condition/multiple-sclerosis
  2. Primary Biliary Cholangitis:
    It is an autoimmune disease of the liver which leads to destruction of the bile duct.
  3. Ehlers Danlos Syndrome (EDS):
    They are a group of rare genetic disorders that affect the connective tissue. It can cause laxity of joints, loose skin, and abnormal scarring.
  4. Sickle cell disease
    It is an inherited blood disorder that causes abnormality of red blood cells which leads to anaemia and related health issues like repeated infections, clotting of blood, pregnancy loss etc.
    For more information see here: https://www.patientsengage.com/conditions/sickle-cell-disease/management
  5. Cystic fibrosis
    It is a rare genetic disease that causes thick sticky mucus to build up in the body that may lead to damage of lungs, pancreas, and other organs.
  6. Duchenne Muscular Dystrophy (DMD)
    It is a rare genetic disorder that causes degeneration and progressive weakness of muscles.
    For a shared experience please see here: https://www.patientsengage.com/personal-voices/my-sons-rare-disease-has-made-us-stronger-humans
  7. Haemophilia
    It is a rare genetic disorder that prevents the blood from clotting properly. It is usually inherited and is more common in men. https://www.patientsengage.com/condition/hemophilia
  8. Gaucher’s disease
    It is a rare genetic disorder that is related to deficiency of an enzyme known as glucocerebrosidase, that is responsible for breaking down fatty substances in the body (lipids). This causes issues with functioning of spleen, liver, bone issues, blood disorders, brain damage etc.
  9. Lysosomal storage disorders
    They are a group of rare inherited metabolic disorders that causes issues with the functioning of lysosomes (organelles that digest large molecules within cells. This causes issues like joint pains, enlarged spleen and liver, easy bruising, anaemia, seizures, developmental delays etc. https://www.patientsengage.com/news-and-views/patient-parent-have-live-…

For more information on Rare Diseases and experiences, join the Rare Disease Community: https://www.patientsengage.com/communities/care-rare-disease-circle

Diagnosis of rare diseases:

Rare diseases also have many symptoms overlapping with many other diseases and hence it may take a while to diagnose it as a rare disease.
Diagnostic tools include:

  • Newborn screening - Includes blood tests, hearing screening, heart screening
  • Blood tests - may comprise of routine tests of blood parameters to check for health of blood and organs.
  • Genetic testing - Genetic testing can look for variants that cause your disease. DNA sample can be collected from a blood draw or cheek swab. A whole-genome sequencing (WGS) may also be done that helps to diagnose rare diseases.
  • Imaging tests: Tests like Ultrasound, X-rays, CT scans or MRIs may be done to check the condition of affected organs like spleen, liver, joints etc.

What can you do if you’re diagnosed with a rare disease?

As most conditions are genetic, you may be sent to a genetic counselor by the doctor.

Management of Rare diseases:

  1. Available Treatments
    • Medications (e.g., orphan drugs)
    • Surgical or therapeutic interventions
  2. Experimental Treatments
    • Clinical trials and research advancements
  3. Holistic and Supportive Care
    • Physiotherapy
    • Nutrition
    • Occupational therapy for managing symptoms and improving quality of life
    • Mental health support for coping with the unknown or unavailable treatment
    • Managing symptoms and improving quality of life
  4. Peer support
    If you don’t find a peer support for the condition your loved one has – join a related group, find a global group or an umbrella organization.

Most common challenges faced by people with rare disease:

  • Delayed Diagnosis: Rare diseases may take a while to be identified as many symptoms as possible and signs may overlap with other conditions and multiple organs may be involved.
  • Finding the Right Doctor: The need to coordinate and meet with several specialists and establish a treatment plan may be challenging to navigate.
  • Access to Care: Patients may experience difficulty accessing specialist physicians and diagnostic centres not in their city.
  • Financial burden: The medications or treatment plans may sometimes be exhaustive, extensive and expensive. Coverage by insurance may be an issue.
  • Psychological effects: It may be a frustrating journey as one may feel alone due to the rarity of the condition, and it may affect the mental wellbeing.
  • Social life: Often times patients may choose to isolate for fear of judgement or lack of understanding of their condition or may not be able to socialize due to the bandwidth the treatment and management takes up.
  • Caregiver’s Burden: Family members of patients may experience a significant burden of caregiving which may consume their life and time, including financial difficulties.
  • Lack of information: Patients and their families may struggle with finding information about their disease, which can lead to poor care and management outcomes.

Living with a Rare Disease

  1. Support Groups
    • Joining patient advocacy groups and organizations may help provide a common ground for resources and aids and increase the knowledge base about the condition and medical advancements.
    • Joining online or local support communities helps to diffuse marginalization.
  2. Managing Day-to-Day Life
    • Adapting to challenges in school, work, and social life is a life skill that needs support, awareness, and resilience.
    • Use of assistive technologies and accommodations like ramps for use of wheelchairs may help ease the day-to-day challenges.
  3. Mental Health and Emotional Well-being
    • Enrolling for therapy and counseling for patients and families is a huge step in acceptance and dealing with the trauma of mental, financial, and social challenges that may be faced.
  4. Caregiver Resources
    • Adopting tips for caregiving and avoiding burnout from available resources and doctors may be very helpful.
    • Accessing financial and emotional support through the available resources is another helpful tool to deal with the condition.

Current Trends in Rare Disease Research

  • Advances in gene therapy, personalized medicine, and AI in diagnosis has propelled the research and connection and recognition of rare diseases and is promising for adopting new treatment practices and protocols.
  • Promising Case Studies - Stories of breakthroughs and patient success help to understand and creates hope for patients and families.

Here are few resources to seek help and get latest information and research:

India:

International:

List of Centers of Excellence for Rare Diseases India can be found on the website of Ministry of Health and Family Welfare (MoHFW)

Know someone with a rare disease and is struggling and may use the experience of someone who’s in a similar situation?Please follow these links for similar stories:

References:

  1. Cleveland Clinic. “Duchenne Muscular Dystrophy (DMD): Symptoms & Treatment.” Cleveland Clinic, 25 July 2022, my.clevelandclinic.org/health/diseases/23538-duchenne-muscular-dystrophy-dmd.
  2. eClinicalMedicine. “Raising the Voice for Rare Diseases: Under the Spotlight for Equity.” EClinicalMedicine, vol. 57, Mar. 2023, p. 101941, https://doi.org/10.1016/j.eclinm.2023.101941.
  3. “Eurordis.org.” EURORDIS, www.eurordis.org/.
  4. FDA. “Rare Diseases at FDA.” FDA, 20 Feb. 2020, www.fda.gov/patients/rare-diseases-fda.
  5. “Https://Www.cancer.gov/Publications/Dictionaries/Cancer-Terms/Def/Rare-Disease.” Www.cancer.gov, 2 Feb. 2011, www.cancer.gov/publications/dictionaries/cancer-terms/def/rare-disease.
  6. James, Rebecca A., et al. “Lysosomal Storage Disorders: A Review of the Musculoskeletal Features.” Journal of Paediatrics and Child Health, vol. 52, no. 3, Mar. 2016, pp. 262–271, https://doi.org/10.1111/jpc.13122. Accessed 12 May 2019.
  7. March of Dimes. “Newborn Screening Tests for Your Baby.” Www.marchofdimes.org, July 2020, www.marchofdimes.org/find-support/topics/parenthood/newborn-screening-t….
  8. Mayo Clinic. “Gaucher Disease - Symptoms and Causes.” Mayo Clinic, 2017, www.mayoclinic.org/diseases-conditions/gauchers-disease/symptoms-causes….
  9. ---. “Hemophilia - Symptoms and Causes.” Mayo Clinic, Mayo Clinic, 29 Aug. 2023, www.mayoclinic.org/diseases-conditions/hemophilia/symptoms-causes/syc-2….
  10. National Institute of Environmental Health Sciences. “Gene and Environment Interaction.” National Institute of Environmental Health Sciences, 12 Sept. 2023, www.niehs.nih.gov/health/topics/science/gene-env.
  11. NORD. “Rare Diseases Archive - NORD (National Organization for Rare Disorders).” NORD (National Organization for Rare Disorders), NORD, 2019, rarediseases.org/rare-diseases/.
  12. “Rare & Orphan Diseases.” Cleveland Clinic, 13 Sept. 2024, my.clevelandclinic.org/health/diseases/rare-and-orphan-diseases.
  13. “Rare Disease.” @Broadinstitute, 21 June 2016, www.broadinstitute.org/medical-and-population-genetics/rare-disease. Accessed 20 Jan. 2025.
  14. “Rare Disease Articles (Symptoms, Diagnostic Workup, Treatment).” Emedicine.medscape.com, emedicine.medscape.com/guide/rare_diseases.
  15. “Rare Diseases FAQ.” Genome.gov, www.genome.gov/FAQ/Rare-Diseases.
  16. The, None. “The Landscape for Rare Diseases in 2024.” ˜the œLancet. Global Health, vol. 12, no. 3, 1 Mar. 2024, pp. e341–e341, https://doi.org/10.1016/s2214-109x(24)00056-1.
  17. “What Is a Rare Disease?” Eurordis.org, www.eurordis.org/information-support/what-is-a-rare-disease/.
  18. Stoller, James K. “The Challenge of Rare Diseases.” Chest, vol. 153, no. 6, June 2018, pp. 1309–1314, https://doi.org/10.1016/j.chest.2017.12.018.
  19. Rider, Hannah. “6 Challenges in Rare Disease Research - LifeArc.” LifeArc, 29 Feb. 2024, www.lifearc.org/2024/6-challenges-in-rare-disease-research-and-how-we-c….
  20. “Rare Disease Day – Small Numbers, Big Challenges… and Big Opportunities - Blog: Health Supplement.” Hbs.edu, 2023, www.hbs.edu/healthcare/blog/post/rare-disease-day-small-numbers-big-cha….
Changed
21/Feb/2025
Community
Care For Rare Disease Circle

Latest Stories

Booklet