BY: Amanda Mkhize.

In the 10 years of its existence, Rare Diseases SA has made great strides in advocacy for rare disease patients. Du Plessis says: “There is lots of work to be done. Most importantly, we need a Rare Disease Policy to be recognised and enforced in SA, and we need National Treasury to assign a budget to treat these patients. However, the healthcare system in SA faces a multitude of a challenges, and certain aspects are niche and nuanced in terms of rare diseases. This includes lack of available research and data to support evidence, lack of clinical trials in SA for rare disease patients, high prices which make accessibility difficult, and the need for mechanisms to escalate product registration where there are no existing products or alternatives available for rare disease patients.”

Du Plessis also notes that patients can’t expect everyone to be a specialist on their particular rare disease. “We need to acknowledge that local doctors and healthcare practitioners may have limited knowledge and experience of rare diseases. What we would like to see is that they are upskilled on the following three aspects: knowing that rare diseases exist, knowing the impact that these have on the patient, and knowing where to refer a patient who they think may have a rare condition. If we can tick these three boxes, great strides will have been made for the diagnostic odyssey that patients with rare diseases go through,” says du Plessis.

Monique Nel, Medical Advisor – Rare Diseases at Sanofi, says: “Based on the diagnostic service that Sanofi provides, we have noticed an increase in the diagnoses of specific rare diseases in both the public and private sector. Partnerships with various stakeholders are therefore paramount in terms of helping researchers and clinicians better manage and understand diagnostic options for patients with rare diseases.”

This means building on scientific understanding and striving to develop more therapies with the potential to improve the lives of those living with rare diseases and beyond.5 Says Nel: “Sanofi’s rare disease patient registries represent one of the largest collections of real-world data for rare diseases amassed over the past 30 years. It has a presence in 65 countries, with more than 920 participating sites and over 18,000 patients enrolled. These registries help researchers to publish the latest information on real-world outcomes, showcasing innovative treatments and ongoing research for people living with rare diseases.”

Sanofi also has a Rare Humanitarian Programme, which has been running for 32 years and provides humanitarian support to people living with rare diseases. Says Nel: “This is an integral part of Sanofi’s mission to develop sustainable healthcare systems, advance access to rare disease innovation, and improve standards of care for rare diseases worldwide. Over 1,000 people in over 70 countries are currently receiving access to therapy via this programme.6”

“By building meaningful connections with all stakeholders through various platforms, we continuously strive to transform the practice of medicine, sharing experiences and breaking down barriers,” says Nel.

If you or a loved one is suffering from strange or unrecognisable signs and symptoms, speak to your healthcare professional. South Africans living with rare diseases could have extended and improved lives by taking this first step to diagnosis and treatment.

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