On February 28, Rare Diseases South Africa (RDSA), in conjunction with its partner Sanofi Genzyme, will launch its annual Rare Disease Day. This year’s theme is ‘research’ and the intention is to encourage the local community to ‘know your genealogy’ and ‘research your family tree’.
Rare diseases are often of genetic origin, and usually life-threatening or chronically debilitating disorders. Due to their low prevalence combined multi-stakeholder efforts are needed to address them.
In South Africa, where medical infrastructure, clinical research and patient support is often a challenge, the aim of Rare Disease Day 2018 is to advocate for timely and accurate diagnosis, early intervention and improved research efforts for rare diseases, thereby enhancing patients’ health and quality of life.
“There are millions of people impacted by rare diseases around the world,” says CEO and founder of RDSA Kelly du Plessis. “Approximately 1 in 7 people will live with a rare disease at some point in their life. Despite this, there is no cure for the majority of rare diseases and many remain undiagnosed. Rare Disease Day is an opportunity to improve knowledge among the general public about rare diseases, while encouraging researchers and decision-makers to prioritise the needs of patients living with these conditions.”
Since inception 11 years ago, more than 1 000 Rare Disease Day events have taken place throughout the world, reaching millions of people including the general public, patients and their families, the medical fraternity, and health policy decision-makers, all with the aim of educating stakeholders about the impact of rare diseases.
RDSA was formed in 2013 initially as a dedicated support group for patients and their families impacted by the diagnoses of a rare condition.
“Imagine making multiple visits over many years to numerous doctors who are unable to diagnose you; and even when you are eventually diagnosed to find that there is no treatment for your condition, or your healthcare provider simply refuses to reimburse the medicine you need to save your life. Think about the environment around you – school, work, hospital and social services – that are usually not adapted to support your needs. Consider as well that there are only a handful of people living with your disorder around the world and that there is little or no research about your condition. Recognise the financial burden and stress caused by having to travel hours or days to get to the only specialist or hospital that can assist you as well as the psychological impact and isolation you would feel. This is a reality that people living with rare diseases face every day,” adds du Plessis.
Due to the rapid growth and increase in members in the first two years, RDSA evolved into a fully registered non-profit focusing on all aspects of advocacy and support for rare disease patients and their families.
Although rare disease patients form a minority of our society and receive minimal assistance and attention, there are approximately 7 000 different types of rare diseases and disorders, with more being discovered each day – these diseases are individually rare, but collectively they are common.
The objective is to ensure that Rare Disease Day is imprinted in the minds of the local population and receives the same attention and focus like World Aids Day, Red Nose Day and Bandana Day. Rare Disease Day aims to create awareness and dialogue about the need for research, care and on-going support for rare disease patients, thereby ensuring that rare diseases are not marginalised and becomes a national priority.
“The general public and media at large are unaware of the fact that collectively there are more people affected by rare diseases than there are HIV/Aids and cancer patients in the world,” adds du Plessis.
In 2018, RDSA in conjunction with Sanofi Genzyme will also focus efforts on promoting awareness around genetic diseases, how they are inherited and how they can be diagnosed. An example of this is Fabry disease, a rare genetic X-linked disorder that belongs to a family of orphan diseases called lysosomal storage disorders (LSD).
Fabry Disease results from a deficient enzyme and there is progressive accumulation of its substrate in various tissues and organs throughout the body, and subsequently a wide range of clinical symptoms. Fabry disease is found in approximately 1 in 40 000 males and 1 in 117 000 of the general population, it is a progressive rare disease that is usually severely debilitating and life-threatening.
The incidence and prevalence of Fabry Disease has not been accurately determined in South Africa, however there is evidence that it is the second most common LSD in the country. Because it can present with a variety of symptoms, such as kidney failure, hearing loss, heart problems, intolerance to heat or cold, skin lesions, etc., it is often misdiagnosed.
Because of its X-lined inheritance pattern, it has been determined that detecting one index patient with Fabry Disease will on average reveal five other family members who share the disease. This underscores the importance of ‘researching your genealogy’.
Sanofi Genzyme has a long-standing commitment to patients with LSDs that dates back to the 1980s and supports Rare Disease Day 2018 by advocating for research that advances the understanding of the conditions that are overlooked and patient needs that are significantly unmet.
Dr Rashem Mothilal Head of Sanofi Genzyme comments, “We are committed to discovering and delivering transformative therapies for patients affected by rare diseases as well as providing support for individuals suffering from these debilitating and life-threatening diseases. We partner with South African patient organisations, healthcare professionals, local laboratories and funders to facilitate the diagnosis, screening and management of patients with rare disorders. Our goal is ultimately to empower the lives of patients and families affected by a rare disease. Rare Disease Day 2018 is an opportunity to be part of a global call on policy makers, researchers, pharmaceutical companies and health professionals to focus their efforts on diagnosis, research and care for patients with rare diseases.”
During the course of February, RDSA is initiating an interactive online campaign to raise awareness of rare diseases and show support for the rare disease community.
Followers can ‘Show you Care for Rare’: #ShowYourRare, by painting their face and taking a selfie with friends, family or colleagues and posting the image on any social media platform.
In the run up to Rare Disease Day 2018, supporters can take part in a 28-day photo challenge on Instagram to help raise awareness of rare diseases by posting one photo a day in different locations using face paint, stickers, posters or banners pledging support and creating awareness.
In addition, participants can help raise funds by donating R10, or purchasing the ‘Jeans for Genes’ sticker and wearing your favourite jeans on Friday, 28 February 2018.
For more information: Email: info@rarediseases.co.za; Web: www.rarediseases.co.za; Facebook: Rare Diseases South Africa; Twitter: @RarediseasesSA; Instagram: rarediseasessa.