A rare disease is often thought of as a condition that affects other people and happens to families and individuals other than yourself. The reality is that a rare disease can afflict anyone at any age and can be either acute or chronic. Many are debilitating and present an ongoing risk of death. As the number of rare diseases has grown to affect over 350 million people globally, a societal need arose to expand research in this area. Moreover, the substantial load of these rare medical conditions also signalled the need to develop drugs intended for the safe and effective treatment, prevention, and diagnosis of these illnesses[1]. We consider rare diseases on both an international and national level to stress the importance of working together to provide adequate access to treatment and support for these illnesses.

What qualifies a disease as ‘rare’?

A rare disease can be understood as a rare medical condition that affects only a small percentage of people compared to other diseases more commonly identified within a population. While little is known about the exact number of people living with a rare disease in South Africa, the advocacy group, Rare Disease South Africa (RDSA) approximates this to be around 3.6 million people[2]. According to Jacob Kumar:

Presently, pathologies estimate that rare conditions affect less than 1 in 2000 births. While some of these illnesses may appear at birth, or during childhood, more than 50% of these diseases appear during adulthood[3].

All of this means that, on a global scale, only 1.97% of the world’s population suffer from rare diseases like renal carcinoma, glioma, and acute myeloid leukaemia. In South Africa, some of the most common rare diseases include:

• Turner Syndrome, where a female is born with only one X chromosome. This affects puberty, fertility, and the heart.
• Scleroderma, a chronic hardening and tightening of the skin and connective tissues, leading to joint pain and heartburn.
• Neurofibromatosis, which is a condition that causes tumours to form in the brain, spinal cord, and nerves.

Sadly, there is no cure for the individuals and families living with any one of these rare conditions. Around 50% of these and other rare diseases do not have a disease-specific foundation supporting or researching these conditions, so living with a rare disease is an ongoing learning experience for patients and their families.

Orphan Drugs as a treatment option

The term ‘orphan drug’ is the name given to medication that has been developed specifically for the treatment of rare medical conditions[4]. In the initial 25 years of the Orphan Drug Act of 1983 in the USA, only 326 new drugs were approved by the Food and Drug Administration and brought to market. These are for all rare disease patients combined[5]. As a result, incentives were created to motivate those in the pharmaceutical industry to prepare and develop more of these drugs, including 7 years of market exclusivity and tax credits. In addition to these incentives, research in the USA has found that orphan drugs offer other advantages such as faster development timelines, lower research and development expenses, and lower marketing costs, to name a few[6]. According to research in recent years, despite recent successes of orphan drugs, less than 10% of patients afflicted by rare diseases are treated today, and the unmet medical need remains high[7].

Rare Diseases in South Africa

South African families confess that some of the biggest challenges they face living with loved ones who are afflicted by these illnesses include:

• Getting an accurate diagnosis. Depending on which disease you’re facing, bringing a definitive diagnosis can take between 7 to 10 years[8].
• Emotional support. Families with a member living with a rare medical condition face strong public stigma and resort to secrecy, resulting in more stress and less available support[9].
• Assuring patient access to appropriate treatment. Many conditions in the country only have supportive care due to the lack of expertise and financial assistance available for treatment and care[10].

In South Africa, the ability to diagnose a rare disease is hindered by the lack of capacity and resources, according to research, putting the time to diagnosis for rare diseases in general higher than the estimated 5.5 to 7.5 years in high-income countries[11].

Conclusion

Rare medical conditions are not limited to one country or people but affect individuals and families globally. In addition to creating incentives, there is a greater need for collective and unified attempts at research into these rare medical conditions and the development and production of medication that will assist in preventing, treating, and diagnosing these illnesses.

References

• Jacob, A., Kumar, D., Sharma, A., Tandon, M. 2010. Orphan drug: Development trends and strategies.
• Laura Owings, News24.com, 2021. [https://www.news24.com]
• Melnikova, Irena. “Rare Diseases and Orphan Drugs.” Nature reviews. Drug discovery4 (2012): 267–268. Web.
• Rare Diseases South Africa. [https://www.rarediseases.co.za/]

[1] Jacob, Kumar, et al. 2010

[2] Owings, 2010

[3] Jacob, Kumar, et al. 2010

[4] Jacob, Kumar, et al. 2010

[5] Rare Diseases South Africa

[6] Melnikova, 2012

[7] Melnikova, 2012

[8] Varn, 2019

[9] Smith, Parrott and Zhu, 2017

[10] Rare Diseases South Africa

[11] Owings, 2021