Rare Disease Day – shining the light on rare diseases

Rare Disease Day – shining the light on rare diseases
Rare Disease Day - shining the light on rare diseases. Image source: Pixabay

Johannesburg, 28 February 2022: Rare Disease Day is observed every year on 28 February (or 29 in leap years) globally to recognise and raise awareness about rare diseases and their impact on patients’ lives. Over 7,000 rare diseases have been described to date, affecting over 350 million people worldwide.1,2

A disease is defined as ‘rare’ when it affects fewer than 1 in 2,000 people.1 Examples of rare diseases caused by single-gene mutations include cystic fibrosis, which affects the respiratory and digestive systems; muscular dystrophies, which affect the muscles; and Huntington’s disease, which affects the brain and nervous system.

Unfortunately, health practitioners may have limited knowledge and experience of rare diseases. This means that many people don’t get diagnosed or get misdiagnosed, or only get diagnosed after many years of living with their rare disease.3,4 This reduces their quality of life, as well as that of their family and carers, making it critical to create greater awareness of rare diseases.

Recent surveys showed that those living with rare diseases had a significantly higher prevalence of anxiety and depression compared to the general population.5,6 Levels of high stress can become even worse for carers when the person they are supporting has a diagnosis with no available treatment option.5,6

Says Monique Nel, Medical Advisor – Rare Diseases at Sanofi: “Over the past 40 years, Sanofi has been dedicated to researching and developing innovative treatments for rare diseases. Apart from developing potential new treatments, Sanofi strives to ensure equitable access to medicines, to eliminate the long search for a diagnosis, and to elevate the voices of those living with a rare disease.7”

“Our rare disease patient registries have grown to represent one of the largest collections of real-world data for rare diseases collected over the past 30 years. We have a presence in 68 countries worldwide, with more than 920 participating sites and more than 17,800 patients enrolled.”

Sanofi also has a Rare Humanitarian Program, which had its 30th anniversary last year, and provides humanitarian support to people living with rare diseases worldwide. This is an integral part of the company’s mission to develop sustainable healthcare systems, increase access, and improve standards of care for rare diseases worldwide. Over 3,300 people in more than 100 countries have received access to free therapy since the program began.8”

“We understand that people living with rare diseases face the challenge of often being overlooked while more common conditions are tackled. Rare diseases deserve the same amount of time, resources and dedication to finding effective treatments and therapies as any other conditions, which is a mission that Sanofi strives to promote every day,” says Nel.

If you or a loved one is suffering from strange signs and symptoms that you don’t recognise, 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.

What causes rare diseases?1
There are many different causes of rare diseases. Most are thought to be genetic, caused by changes in genes or chromosomes. In some cases, genetic changes that cause disease are passed from one generation to the next. In other cases, they occur randomly in a person who is the first in a family to be diagnosed.

Many rare diseases, including infections, some rare cancers, and some autoimmune diseases, are not inherited. While researchers are learning more each year, the exact cause of many rare diseases is still unknown.

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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. Bogart KR, Irvin VL. Health-related quality of life among adults with diverse rare disorders. Orphanet J Rare Dis 2017 Dec 7;12(1):177. doi: 10.1186/s13023-017-0730-1. PMID: 29212508; PMCID: PMC5719717.
  4. National Alliance for Caregiving. Rare Disease Caregiving in America. Available at: https://www.caregiving.org/wp-content/uploads/2020/05/NAC-RareDiseaseReport_February-2018_WEB.pdf. Accessed January 2022.

7.Sanofi Your Health webpage. Rare Disease. https://www.sanofi.com/en/your-health/specialty-care/rare-diseases. Assessed February 2022.

  1. 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 2022.

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Kerry Simpson

Mantis Communications

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