Rare Diseases defined

Rare Diseases are defined by Orphanet as ‘diseases which affect a small number of the population and specific issues are raised in relation to their rarity. In Europe, a disease is considered to be rare when it affects 1 person per 2000. A disease can be rare in one region, but common in another. This is the case of thalassemia, an anaemia of genetic origin, which is rare in Northern Europe, but it is frequent in the Mediterranean region. 'Periodic disease' is rare in France, but common in Armenia. There are also many common diseases whose variants are rare.

 

There are thousands of rare diseases. To date, six to seven thousand rare diseases have been discovered and new diseases are regularly described in medical literature. The number of rare diseases also depends on the degree of specificity used when classifying the different entities/disorders. Until now, in the field of medicine, a disease is defined as an alteration of the state of health, presenting as a unique pattern of symptoms with a single treatment. Whether a pattern is considered unique depends entirely on the level of definition of our analysis

While nearly all genetic diseases are rare diseases, not all rare diseases are genetic diseases. There are also very rare forms of infectious diseases, such as auto-immune diseases and rare cancers. To date, the cause remains unknown for many rare diseases.

Rare diseases are serious, often chronic and progressive, diseases. For many rare diseases, signs may be observed at birth or in childhood, as is the case of proximal spinal muscular atrophy, neurofibromatosis, osteogenesis imperfecta, chondrodysplasia or Rett syndrome. However, over 50% of rare diseases appear during adulthood, such as Huntington diseases, Crohn disease, Charcot-Marie-Tooth disease, amyotrophic lateral sclerosis, Kaposi's sarcoma or thyroid cancer.

The field of rare diseases suffers from a deficit of medical and scientific knowledge, globally. For a long time, doctors, researchers and policy makers were unaware of rare diseases and until very recently there was no real research or public health policy concerning issues related to the field. There is no cure for most rare diseases, but the appropriate treatment and medical care can improve the quality of life of those affected and extend their life expectancy.

Those affected by these diseases all face similar difficulties in their quest for a diagnosis, relevant information and proper direction towards qualified professionals. Specific issues are equally raised regarding access to quality health care, overall social and medical support, effective liaison between hospitals and general practices, as well as professional and social integration and independence.

Those affected by rare diseases are also more psychologically, socially, economically and culturally vulnerable. These difficulties could be overcome by appropriate policies. Due to the lack of sufficient scientific and medical knowledge, many patients are not diagnosed and their disease remains unidentified. These are the people who suffer the most from difficulties in receiving appropriate support. 

CHALLENGES FACING RARE DISEASES SOUTH AFRICA

 

  • The need for a definitive definition of a “rare disease

  • The need for big data in terms of the threat of rare diseases in South Africa, patient numbers and treatment outcomes

  • Guidelines and Clinical protocols are required for the effective treatment and management of rare diseases.

  • Rare diseases are underdiagnosed and underfunded in South Africa and existing resources are not employed to ensure maximum return on investment, efficiency or efficacy.

  • Patient education is critical to understand their rights and liberties.

  • No existing culture of collaboration between stakeholders – focus of support groups is very singular and disease specific.

  • NGOs not perceived as professional and results driven businesses with strategic focus

  • Previous experiences with HIV/AIDS activism and advocacy have made Government wary of Advocacy organisations

  • Limited Financial resources regarding individual patient advocacy

  • Culture of apathy amongst South African healthcare consumers

  • Cultural, class, literacy diversity of South Africa

  • Patients lack of understanding on entitlement to rights

  • Accessibility of information

  • Escalation processes are cumbersome and ineffective

  • Treatment decisions are based on cost rather than efficiency where treatment is available.

  • Supportive care is often the only intervention possible and is often not recognized as a medical need.

  • Poor lead times from diagnosis to treatment, inaccurate diagnosis, unregistered treatments continue to minimize access for patients.