Rare. We are many – advocating for patients with rare diseases

Rare. We are many – advocating for patients with rare diseases
Rare. We are many - advocating for patients with rare diseases. Image source: Pixabay

Johannesburg, 28 February 2023: Rare Disease Day falls on 28 February each year and is a critical opportunity to bring together all stakeholders including patients, families, care partners, healthcare professionals, researchers, clinicians, policy makers and the general public, to collectively raise awareness for vulnerable rare disease patients who are often under-recognised and under-represented.

A disease is defined as ’rare’ when it affects fewer than 1 in 2,000 people.1 Currently, there are more than 7,000 known rare diseases, affecting more than 300 million people worldwide.1-2

Rare diseases are often misunderstood, with some patients spending up to 10 years waiting for an accurate diagnosis.3,4 Years of uncertainty can be physically, mentally and financially taxing. Kelly du Plessis, Founder and CEO of patient advocacy group, Rare Diseases SA, terms this the “diagnostic odyssey” that rare disease patients often experience.

What causes rare diseases?
Rare diseases come in many forms. Most are thought to be caused by abnormalities in genes or chromosomes, and some are passed from one generation to the next (inherited), while others occur randomly in a person who is the first in a family to be diagnosed (acquired).1 The exact cause of a number of rare diseases is still unknown.1 Not all rare diseases, including infections, some rare cancers, and some autoimmune diseases, are inherited.
Examples of rare diseases

Some examples of more commonly known rare diseases include cystic fibrosis, Crohn’s disease, Duchenne’s muscular dystrophy, Gaucher disease, Fabry disease and Hunter syndrome or Mucopolysaccharidosis type II.

Tackling the challenges of rare disease diagnosis and treatment

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.

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”

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.

For more information, visit: www.rarediseases.co.za

References:

  1. NIH. Genetic and Rare Disease Information Center. FAQs About Rare Diseases. Available at: https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases. Accessed January 2022.
  2. Nguengang Wakap S, Lambert DM, Olry A, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet 2020;28:165–173. https://doi.org/10.1038/s41431-019-0508-0.
  1. Mistry PK, Sadan S, Yang R, et al. Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention. Am J Hematol 2007;82(8):697-701.
  2. Wilcox WR, et al. Mol Genet Metab 2008;93(2):112-128.
  3. Sanofi Your Health webpage. Rare Disease. https://www.sanofi.com/en/your-health/specialty-care/rare-diseases. Accessed February 2023.
  4. Sanofi. The Sanofi Genzyme Rare Humanitarian Program turns 30. Available at: https://www.sanofi.com/en/about-us/our-stories/the-sanofi-genzyme-rare-humanitarian-program-turns-30. Accessed February 2023.

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Kerry Simpson

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