#RareIsMany: In what ways is a rare disease not rare?

While much of the last year has been dominated by an illness that represents a risk to the many, it remains important to talk about lesser-known and often-overlooked conditions, particularly with Rare Disease Day just around the corner.

A disease is classified as ‘rare’ based on its overall incidence across a population – for example, in Europe, we put a disease into the rare category if it affects fewer than one in 2,000 people.[1] In the U.S. it’s less than 200,000.[1] With this in mind, it is perhaps surprising to know that 1 in 20 of us will face life with a rare disease at some point.[2,3] While cases of each disease are of course rare, the fact that there are at least 7,000 different rare diseases means that having a rare disease is much more common that we might like to think.[1] This is just one of the reasons why, here at Roche, we take the approach that these conditions are no less important than more common diseases.   

There is another way in which the ‘rare’ label doesn’t tell the full story: individual diseases are not uniformly distributed throughout society. For reasons including genetics, patterns of migration and environmental factors, they tend to cluster in particular families, ethnicities, or geographies. Some communities can therefore be disproportionately affected by these diseases, and some countries or even smaller regional areas have a higher burden. Looking at genetics – around 80% of rare diseases have a genetic basis and this can mean that a disease is, unfortunately, common within a family.[2] In these cases, when multiple generations can be affected, family members may have to live with the emotional burden of knowing that they themselves, their children or even their grandchildren may be at risk. One example is Huntington’s disease (HD) – a hereditary, progressive brain disease that severely impacts individuals and their families across generations. Another example is in people with a rare genetic mutation that causes familial Alzheimer’s disease. 

This disparity in the ‘rarity’ of rare diseases between ethnicities and geographies can be illustrated by the significant variations in prevalence of rare and debilitating disorders of the central nervous system such as neuromyelitis optica spectrum disorder (NMOSD), spinal muscular atrophy (SMA) and HD: 

One thing that is all too rare when it comes to rare diseases is treatments. Shockingly, there are currently no treatments for 90% of rare diseases, despite the individual and societal burden they represent – from a physical, mental, emotional and financial perspective.[1] Developing innovative therapies for diseases with small patient populations has its challenges - as well as the limited number of people with rare diseases available to take part in clinical trials, research and development teams may also have to grapple with a lack of validated outcomes measures and the fact that expert centres are often few and far between. But there is no question that these patient communities need breakthrough innovations that can enable them to live longer and healthier lives. I recommend watching (and sharing!) the official Rare Disease Day video for a glimpse of what some people living with a rare disease experience every day. 

Here at Roche, we believe that the best way to navigate these challenges is by working together with the rare disease community. We take the trust of the rare disease community seriously, and are working with patient organisations and people with rare diseases at every stage to understand what is most meaningful to them. That’s why 90% of our development programmes have input from patient partners – and our goal is to make that 100%. 

We’re following the science to make breakthrough innovations for rare diseases previously thought to be untreatable and are focusing our efforts on diseases where there is the greatest need and where we believe we can make the biggest valuable difference to people’s lives. No person living with a rare disease should feel alone. On Rare Disease Day – and every day – at Roche, we stand with the rare disease community to provide answers, support and ultimately new medicines that will help preserve what makes people who they are. 

References

1. FAQs About Rare Diseases. [online]. Genetic and Rare Diseases Information Center. Available at: https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases. Last accessed: February 2021.

2. RARE Facts. [online]. Global Genes. Available at: https://globalgenes.org/rare-facts. Last accessed: February 2021.

3. What is Rare Disease Day. EURODIS. Available at: https://www.rarediseaseday.org/article/what-is-rare-disease-day. Last accessed: February 2021.

4. Epidemiology of Neuromyelitis Optica Spectrum Disorder and Its Prevalence and Incidence Worldwide. 2020. Frontiers in Neurology. Available at: https://www.frontiersin.org/articles/10.3389/fneur.2020.00501/full Last accessed: February 2021.

5. Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: a prospective population-based cohort study. 2011. PLoS One. Available at: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0017067 Last accessed: February 2021.

6. The prevalence of spinal muscular atrophy carrier in China. 2020. Medicine. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7004774/pdf/medi-99-e18975.pdf Last accessed: February 2021.

7. [Roche data on file].