There is no need to convince anyone already working in the rare disease community about the importance of advocacy and raising awareness for rare diseases.
If you or a loved one is affected by a rare disease you are all too aware of the challenges that are encountered. You are also probably advocating for the many actions that need to be made to improve the lives of all individuals living with a rare disease.
However, getting the general public interested in rare diseases can be another story. A story that, in my opinion, needs to be changed.
In this article I will share the five reasons why I think rare diseases should interest everyone and why they deserve our collective attention.
Rare diseases are not that rare and anyone can be affected
In Europe, a rare disease is defined as a disease that affects less than 1/2000 people. Some of the more than 7000 rare diseases affect only a very small number of people. However taken together, there are 300,000 people in Europe living with a rare disease.
At a world scale that number rises to 300 million and, of course, this figure only accounts for the individuals diagnosed with a rare disease, not their family and carers, whose lives are also greatly affected.
If you are not yet personally affected by a rare disease, that’s fine. However, with this knowledge, it is not hard to imagine that at some point in your life you or someone you know may be affected (perhaps this is already the case and you are unaware as they have no visible signs). So having some basic knowledge about rare diseases may help you in the future.
While many rare diseases are genetic diseases inherited from a parent, do novo (new) mutations happen all the time. There are also some rare diseases have no genetic basis and can present in adulthood, such as a numerous rare autoimmune diseases. Neuromyelitis optica spectrum disorder (NMOSD) is one example.
You may know someone that is unaware that they have a rare disease and by recognizing some of their symptoms, you could help them talk to their doctor and receive an earlier diagnosis that could save their life. If a friend mentioned they experienced recurrent nosebleeds, for example, this could be a red flag for hereditary hemorrhagic telangiectasia.
This argument alone should make rare diseases an interesting topic to learn about.
Rare disease research is innovative and can lead to better understanding of non-rare diseases
Exploring rare diseases through research enables us to deepen our comprehension of disease mechanisms and can also shine light on how certain genes function and interact with each other.
This understanding can inform research into both rare and common diseases, shedding light on disease pathways and potential therapeutic targets.
Hutchinson-Gilford progeria syndrome is a rare premature aging syndrome, and has been used as a model to research aging-related cardiovascular diseases.
Rare disease research often involves cutting-edge technology and leads to discoveries that can then be transposed to more common illnesses. Dr. Stephanie Cherqui, a professor from the University of California San Diego, found a treatment for a rare lysosomal disease called cystinosis using hematopoietic stem cells and has now tested this same technology for Alzheimer’s disease, a more common disease, with promising results.
These examples, along with many others, demonstrate that the knowledge gained through rare disease research enhances our ability to diagnose, predict, and treat a wide range of health conditions.
They can teach us empathy and how to respect people with different experiences or conditions
When we start to explore the world of rare diseases we are exposed to people with a wide variety of clinical presentations. These can include people who have visible and invisible disabilities or others with visible differences such as facial malformations or rare skin diseases.
Learning about the various disabilities experienced by rare disease patients will mean that you will have a greater understanding of their challenges. You will know not to question someone who appears healthy (in your opinion) when they park in a disabled parking spot, as they may have an invisible disability. You will also know not to make an insensitive comment to someone saying they “look fine” while they are struggling with extreme fatigue and/or chronic pain. When we learn about someone’s lived experience we are more likely to be empathetic to their needs.
Similarly, talking to your children about people with a rare disease that causes a facial difference or an intellectual disability may also help teach children acceptance and understanding.
When we teach children that we are all unique, we decrease the chance that they will discriminate or bully others who are visibly different.
Granted, you don’t need to have a rare disease to have a disability, but learning about rare diseases from an early age can be nothing but positive.
As it is the back to school season, now is the perfect time, and there are some great resources available for children, parents and teachers. A few examples include the Teacher’s Guide to Supporting a Student with a Facial Difference by AboutFace or the many children’s books by Fondation Ipsen (one of my favorites is Moon, the Little Raccoon) to get the conversation started.
Being kind to everyone is something that our society could definitely benefit from, and it starts early with proper education that fosters understanding and respect for all.
The Cost of the Diagnostic Odyssey
Obviously, when a patient is misdiagnosed or has a lengthy diagnostic odyssey, they face significant financial and emotional burdens. They may be exposed to unnecessary medical tests and examinations, suffer from debilitating symptoms that can prevent them from being able to work, and experience significant psychological distress. The cost to the patient and their family is evident.
However, we could also argue that these additional and unnecessary tests can have a significant impact on the healthcare systems that we all rely on.
Imagine the unnecessary tests (and their cost) that could be avoided if patients were diagnosed early, when their initial symptoms first occur. Misdiagnoses and diagnostic delays can also lead to a patient’s condition worsening or the development of life-threatening complications. This can result in the need for more costly management and follow-up that could have been avoided if their disease had been caught early.
To give you an idea of the cost, the EveryLife Foundation for Rare Diseases’ report, entitled The Cost of Delayed Diagnosis in Rare Disease: A Health Economic Study, estimated that the economic impact of a delayed diagnosis is up to $517,000 in avoidable costs per patient. Although this study focused on only seven rare diseases in the U.S., it clearly demonstrates the significant medical and societal costs of a delayed diagnosis.
Rare disease patients waiting years for a proper diagnosis is just plain inefficient. If more people (especially general practitioners and pediatricians) are educated on rare diseases, they are more likely to be able to recognize any red flags quickly, and refer patients to a reference center for diagnosis and treatment.
This would leave more money for developing new treatments and supportive care.
If you believe in health equity, rare diseases should interest you
Today, it is estimated that 300 million people live with a rare disease worldwide, and yet access to diagnosis and treatment is highly inequitable both within and across countries. Even in Europe, smaller or poorer countries are less likely to have access to specialized expert centers and costly treatments. The European Reference Networks (ERNs) have aimed to address this problem by enabling cross-border virtual consultations.
A truly inclusive society should make sure that the needs of its most vulnerable members are met. This includes people living with a rare disease. No matter where you live, you should have the same chance of receiving a timely diagnosis and accessing affordable care and treatment.
On May 24, 2025, the World Health Organization adopted the first-ever Resolution on Rare Diseases. This is a first step in making rare diseases a global health priority and taking concrete actions towards a more equitable and inclusive society. However, there is still a lot of work and advocacy to be done, including the development of a Global Action Plan to ensure national governments implement the necessary actions to ensure that no one is left behind.
We need to realize that creating healthcare systems that are patient-centered and holistic for rare disease patients ultimately benefits everyone.
So the next time that someone claims that rare diseases do not interest them because they are not personally affected, I hope you can use some of these points to start a discussion with them. Talk about a rare disease you are familiar with or maybe refer them to some sources where they can find reliable rare disease information.
In conclusion, rare diseases should interest everyone.
We should not have to be affected by something to care about it.
Now, more than ever, the world needs to hear this message.
