World observes rare diseases day

This week marks Rare Diseases Day, which aims to raise awareness and advocate for the acknowledgement and representation of communities affected by rare diseases in mainstream healthcare facilities. The recent 3rd Biennial Rare Diseases Conference held in Johannesburg highlighted the significance of this awareness initiative. The conference provided a platform for the exchange of ideas and scientific insights, emphasizing the importance of incorporating the experiences of patients, caregivers, and support groups in addressing rare diseases. Monique Nel, Medical Advisor at the global healthcare and pharmaceutical company SANOFI, emphasized the increasing prevalence of rare diseases worldwide. She explained that rare diseases, such as spinal muscular atrophy and cystic fibrosis, primarily affect the respiratory and digestive systems.

“So rare diseases would be celebrated on the 29th of February. On this day, it really is about raising awareness and understanding of what rare conditions really are, for example, someone may have heard of it which is spinal muscular atrophy. It’s a genetic disorder, and another good example is cystic fibrosis; it primarily affects the respiratory and digestive system.”