The things nobody tells you.

Rare Diseases South Africa, a registered NPO, is a voice for vulnerable communities – one that not only provides support for those impacted by rare diseases, but also, advocates for universal healthcare to ensure equitable access for all Rare Disease patients. Founded in 2013, Rare Diseases South Africa brings international best practice and local innovation together in terms of medical intervention and treatment, drives a collective voice for medical advancement and support and advocates the right to medical advice and assistance. Rare Diseases South Africa plays a fundamental role in bridging the gap between vulnerable communities and medical advancement.

A condition is considered rare when it affects 1 person in 2000 according to Eurordis. Currently, South Africa does not have its own definition of a rare disease which is one of the major issues needing to be addressed by government.

There may be as many as 7,000 rare diseases, so whilst they are individually rare, they are collectively common.

Rare diseases are present across the medical spectrum. Some are widely recognised by name, such as cystic fibrosis, while others are less known, such as cat eye syndrome. There are rare neurological and neuromuscular diseases, metabolic diseases, chromosomal disorders, skin diseases, bone and skeletal disorders, and rare diseases affecting the heart, blood, lungs, kidneys, as well as other body organs and systems.

There are many different causes of rare diseases. The majority are thought to be genetic – directly caused by changes in genes or chromosomes. In some cases, genetic changes that cause disease are passed from one generation to the next. In other cases, they occur randomly in a person who is the first in a family to be diagnosed. Many rare diseases, including infections, some rare cancers, and some autoimmune diseases, are not inherited. While researchers are learning more each year, the exact cause of many rare diseases is still unknown.

Researchers have made progress in learning how to diagnose, treat and even prevent a variety of rare diseases. However, there is still much to do because most rare diseases have no known treatments.

- Difficulty in obtaining an accurate diagnosis (this can take years, which can be critical for stopping or halting the progression of a disease) - Limited treatment options - Little or no research being done on the disease - Difficulty finding physicians or treatment centres with experience for a particular disease - Paying for treatments that are generally more expensive than those for common diseases - Reimbursement issues related to private insurance and medical aid - Difficulty accessing medical, social, or financial services or assistance because those making the decisions are not familiar with the disease - Feelings of isolation and of having been abandoned or “orphaned” by our health care system