Updated: May 5, 2021
To mark the occasion of Rare Disease Day 2019 the NGO Committee for Rare Diseases organised its second high-level event at the United Nations headquarters in New York.
The conference presented a number of activities carried out through 2017 to 2018, until recently, within the human rights, health and sustainable development agendas of the United Nations system to discuss a call towards a General Assembly Resolution on rare diseases.
The CEO and founder of Rare Diseases South Africa Kelly Du Plessis was selected to discuss the advancement of rare diseases as a global public health priority, and addressed the international NGO community, UN agencies and national governments, academic and research institutions as well as the private sector.
Rare Diseases SA at the Round Table at the United Nations
During a meeting for national strategies of rare diseases within government’s commitment to healthcare, Du Plessis presented a case for the need to adopt health care protocols that are beneficial for rare disease patients and a health care model that will contribute towards inclusive and equitable societies.
She commented, “South Africa is once again in a state of reform with aims to implement National Health Insurance [NHI] in the near future. With this change, has come an opportunity for input into various drafts leading up to NHI implementation.”
The various critical inputs to this process were highlighted by Du Plessis in accordance with the Sustainable Development Goals.
She stated, “30% of children affected by a rare disease will not live to see their fifth birthday, and it is impossible to achieve the reduction in the under-five mortality rate without focusing on improving outcomes for rare disease patients.
With a population of 56 million people and only 12 medical geneticists available in three out of the nine provinces, we as a country have a long way to go.
The lottery of income, geographical location and race has for three centuries been the primary determinant of the quantity and quality of healthcare received by South Africans.”
She further added, “Section 27 of the Constitution states that access to healthcare is a basic human right, and not recognizing the vulnerable community, such as those impacted by rare diseases, is essentially a violation of a fundamental human right.”
The major challenge in the case of rare diseases is the lack of diagnosis and treatment options, government policies, and funding for research and development.
Rare diseases are a global issue which transcends borders, and is a huge problem affecting a relatively small group of people. Their scale and variety makes it difficult for efficient research, diagnostics and therapy to be conducted at national level.
In her closing statement Du Plessis said, “Every country should, at the very least, begin by meeting minimal or basic needs. The right of access to healthcare means being able to access healthcare that is affordable, available and effective; it means prioritizing primary healthcare so as to prevent and control local endemic diseases; immunizations against national infectious diseases; treat common diseases and injuries and provide essential medicines. It also means prioritizing care to vulnerable groups.”
With this in mind, Rare Diseases International hopes to get the United Nations to pass a resolution recognizing the importance of helping the estimated 350 million people worldwide who have rare diseases.
To watch the presentation made my Kelly du Plessis, click on the link and forward to 2h45 minutes.