Rare Disease Day 2024: The importance of amplifying voices and bridging health-care gaps in SA

Oscar von Memerty, a hip hop dancer and motivational speaker, raises awareness on rare gene diseases. Picture: Thobile Mathonsi

Oscar von Memerty, a hip hop dancer and motivational speaker, raises awareness on rare gene diseases. Picture: Thobile Mathonsi

Published Feb 29, 2024


Rare Disease Day, which is commemorated globally on the last day of February each year, seeks to raise awareness and provide support to patients.

It is also an opportunity to unite all parties, including sufferers, their loved ones, caregivers, medical professionals, researchers, policymakers and the broader community as a whole.

According to health experts, a disease is defined as “rare” when it affects less than 1 in 2 000 people.

There are currently more than 7 000 known rare diseases, which affect more than 300 million people worldwide.

Examples or rare diseases include cystic fibrosis, Duchenne muscular dystrophy (DMD), Huntington’s disease, sickle cell disease, and amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease.

These medical conditions come in many forms and most are thought to be caused by abnormalities in genes or chromosomes.

Meanwhile, others are inherited and are passed from one generation to the next.

In addition, some rare diseases occur randomly in a person and they become the first in a family to be diagnosed.

One of the challenges that patients face is that rare diseases are often misunderstood, with some sufferers spending up to a decade waiting for an accurate diagnosis.

And with Rare Disease Day 2024 being observed on Thursday (February 29) around the world, South Africans are being urged to support those affected.

This can be done through advocacy, education and collaboration.

Kelly du Plessis, founder and CEO of Rare Diseases SA. File image

Kelly du Plessis, the founder and CEO of patient advocacy group Rare Diseases SA, said that there are more than 4.1 million individuals in the country living with these medical conditions.

“Yet many of them, as well as their families, are often left coping alone and in silence.”

She added that this can be mentally and physically challenging to all those involved.

“Years of uncertainty can be physically, mentally and financially taxing.”

Du Plessis added that rare diseases might be individual in nature but, collectively, they represent a significant portion of the population.

And as high costs and limited access to treatments place a significant burden on patients and their families, Rare Diseases SA said that they are committed to bridging the gap in care and support for these patients.

In a bid to improve equity among rare disease sufferers, health-care company Sanofi has rallied its employees and resources to help those affected.

Medical adviser for rare diseases at Sanofi South Africa, Monique Nel, added that they have noted an increase in diagnoses within both public and private health-care sectors.

“Collectively, we need to expand scientific knowledge and develop more effective treatments to improve the quality of life for those affected by rare diseases.”

Sanofi’s rare disease patient registries, which have been collecting data for over 30 years, are among the most extensive sources of real-world information on rare diseases globally.

“These registries, spanning 65 countries with over 920 sites and more than 18 000 patients, support the publication of new findings on treatment outcomes and ongoing research, thereby contributing to innovative care for rare disease patients,” Nel said.

Equity in diagnosis

Given the serious nature of many rare diseases, faster and more accurate answers are the key to survival for some, Nel warned.

“For example, newborn screening can drive equity in diagnosis for the rare disease community, giving the littlest patients, who can’t speak for themselves, a fighting chance from the start.”

She also believes that the earlier the diagnosis, the sooner a clinician can initiate an intervention, providing a better chance to improve outcomes.

Equity in innovation

Each person living with a rare disease has unique needs and their symptoms can vary greatly.

Nel explained that for this reason, Sanofi is determined to develop groundbreaking medicines for rare diseases.

“This is not just for conditions with no treatment options, but importantly, even for conditions where treatments do exist, because there is no one-size-fits-all approach.”

Equity in access

Sanofi’s Rare Humanitarian Programme, which was established in 1991, provides access to treatments to patients, regardless of where they live or their ability to pay.

To date, this initiative has provided more than 3 600 people globally in more than 100 countries with access to free treatment through the programme.

Equity in support

Sanofi provides rare-disease sufferers with necessary therapies, connects them with community resources, facilitates accurate diagnoses and ensures that research on these types of medical conditions continues.

“Patient registries are a critical tool in supporting all of these efforts, as they aggregate real-world evidence, from across the globe, of all different types of people living with rare diseases,” Nel said.