Why Invisible Conditions Need More Visibility (Especially the Rare Ones)
While rare diseases can be visible, many are invisible or cause invisible symptoms or disabilities that significantly impact an individual’s quality of life. With over a decade of experience working with the rare disease community in Europe, Natasha Barr shares about the benefits of increasing the visibility of invisible conditions—especially the rare ones.
Written by Natasha Barr
Hi! My name is Natasha and I offer communication, content writing and translation services to the rare and chronic disease community from Paris, France, where I have lived since 2010.
When I was asked to write something for the Invisible Condition blog, I was a little unsure of what to write. However, with February 28th being Rare Disease Day and knowing that many rare diseases are invisible conditions or are accompanied by invisible symptoms, I realized that this was the perfect opportunity to talk about something I care deeply about.
In Europe, a rare disease is defined as one that affects less than 5 per 10,000 (or 1/2000) individuals. While rare diseases can be visible many are invisible or cause invisible symptoms or disabilities that significantly impact an individual’s quality of life.
I have been working with this community for more than a decade and one of the most common needs is for more recognition and understanding of these hidden aspects of their condition. On a more personal level, invisible conditions shaped my life long before I even knew about them, so I’m honored to contribute to the Invisible Condition blog.
In this article, I will cover the many reasons why I think invisible conditions need to be brought out of obscurity, in particular when it comes to rare diseases.
In this article, I will share about:
Growing Up With Parents With Invisible Conditions
My Introduction to the World of Rare Diseases
6 Reasons Why Invisible Conditions Need More Visibility
Growing Up With Parents With Invisible Conditions
Both my parents had invisible conditions. My father has Crohn’s disease and ankylosing spondylitis. But it was not something we really talked about growing up. We knew that he had to be careful of what he ate and that he had to rush to the bathroom at certain times of the day, but that was just his “normal”.
My mother had a long battle with breast cancer, but she kept it hidden from my sister and me for a very long time as she did not want to worry us. That was until it got really bad and she needed daily help with showering, dressing and other caregiving tasks. And even then, she shared as little as possible about the extent of her disease.
From the outside, no one knew my parents had these invisible illnesses. Everything was a secret and it took me a long time to even tell my friends about it. The weight of not being able to talk about it had a negative impact on my mental health. I developed terrible anxiety in my early 20s and I now realize that it took me a long time to open up about that as well.
Looking back, I often think that things would have been less stressful had we all been more open about the health issues in the family.
My Introduction to the World of Rare Diseases
Fast-forward to 2011 when I moved to Paris and got hired at Orphanet, the reference website and database on rare diseases and orphan drugs. It was at Orphanet where I was introduced to the world of rare diseases and where I started to learn about the more than 7000 that exist. I researched and wrote abstracts about these diseases and learned about the national rare disease plan in France (the first to be adopted in Europe, in 2004).
Raising awareness at a Rare Disease Day event in Paris in 2020, with one of my former Orphanet colleagues.
I participated in rare disease-related activities such as Rare Disease Day. I remember thinking how amazing it was that all of these people living with rare diseases (PLWRDs) came together to advocate for better care and raise awareness for the common issues they shared. I saw people proud to speak about their rare diseases and passionate about improving the lives of others. And that sharing their “rare” with the world was a positive action that ignited positive change and strengthened their collective spirit.
Thanks to the advocacy efforts of the rare disease community, the 24 European Reference Networks (ERNs) were launched in 2017. That year I joined VASCERN, the ERN on rare multisystemic vascular diseases as a scientific and communications project officer. The diseases covered by this ERN include rare diseases like Marfan syndrome, vascular Ehlers-Danlos syndrome and primary lymphedema, to name a few.
It was at this job that I really got to work closely with the patient community and I quickly realized the benefits that came from creating these multi-stakeholder networks where patient advocates and medical experts worked together for a common cause.
6 Reasons Why Invisible Conditions Need More Visibility
In 2022, I decided to create my own small business where I continue to work with the rare disease community. With all of this in mind, here are the main reasons why I think that invisible conditions need more visibility (with a bit of an emphasis on rare diseases).
1. To Better Recognize and Diagnose These Diseases
PLWRD often face a long delay (referred to as a “diagnostic odyssey”) before receiving a diagnosis (if at all). A recent Rare Barometer retrospective patient survey reported that the average time from symptom onset to diagnosis in Europe is five years.
This is often due to a lack of knowledge of non-specialized healthcare professionals about the signs and symptoms of rare diseases. By raising awareness and educating the doctors of tomorrow, especially the primary care physicians and pediatricians who are often the first contact point with patients, the quicker they will be able to refer them to a specialized center for diagnosis and care. Medics for Rare Disease is doing a great job at educating young doctors with their Rare Disease 101 course, which covers the basics of rare diseases and how to properly support patients.
2. To Reduce Misunderstanding and Stigma
It is common for many rare disease patients with invisible conditions to face skepticism and disbelief when describing the extent of their symptoms. Something as simple as using a disabled parking spot without a wheelchair can invite judgmental looks. The more we educate the public about the real impact of invisible disabilities, the less likely patients are to face unfair and harmful assumptions.
Having people share their personal stories is, in my opinion, the best way to raise awareness and increase understanding of what a patient really experiences. I work with the World Alliance of Pituitary Organizations and last year we made a great awareness video for Acromegaly Awareness Day which did just that. And it is never too early to start educating your kids about visible and invisible disabilities with age-appropriate material. Fondation Ipsen provides a variety of free books on the topic of rare diseases for all age levels.
3. To Protect the Mental Health of Those Living With a Rare Disease
As rare diseases are less known by the public, people living with them are less likely to receive empathy and nods of understanding when they share their diagnosis with others. People with invisible conditions often struggle with the mental health impact of being misunderstood, ignored or not believed by their doctors, family or friends. This can lead to feelings of isolation and can affect the whole family unit.
To address the unique mental health needs of the community, Eurordis launched the Mental Health & Wellbeing Partnership Network in 2023. They have developed a dedicated information page with a resources hub and they are working on many other exciting projects. As someone whose anxiety improved significantly after opening up and sharing her struggles with others, I truly believe that talking about mental health is vital.
4. To Create or Strengthen Patient Support Networks and Patient Organizations
The majority of patient advocates I have talked to mention a major turning point in their journeys being when they joined a support group or patient organization or met others with the same (or similar) condition as them. The feeling of being finally understood and supported is irreplaceable.
One of the patient organizations I have worked with, NMO France, was founded by Souad Mazari after her diagnosis with neuromyelitis optica spectrum disorder (NMOSD), when she realized there was no patient organization for her condition in France. This is quite common in the rare disease field, especially with ultra rare diseases. By raising awareness for invisible conditions and the organizations that offer this much needed sense of community, we can help others find their “tribe” quickly, so that they do not have to walk the journey alone.
5. To Reduce Medical Trauma Experienced by Patients
I have heard many patient advocates talk about less-than-ideal interactions with doctors or specialists. A few examples include a diagnosis that is given in a cold and detached manner, their symptoms or concerns being minimized or ignored (leading to misdiagnosis) or being on the receiving end of truly hurtful remarks.
Educating healthcare professionals about rare diseases and any invisible disabilities associated with them can help to reduce these negative events and foster patient/healthcare professional relationships based on trust and respect.
In addition to providing expert cross-border care in Europe, the 24 European Reference Networks have brought patient advocates and healthcare professionals together to learn from each other. Many offer training to medical students on their specific groups of diseases and patient advocates are involved in the preparation of the course content, ensuring that compassion is a key element of care.
6. To Create Societal Changes that will Benefit Everyone
When we discuss rare diseases and invisible conditions at a societal level, and we understand the challenges faced, we can better advocate for improved policies and support systems. Whether we are talking about school or workplace accommodations (as described in this article by Tim) or respite care for caregivers, there is still so much that needs to be changed to improve the lives of people living with these conditions.
Rare Diseases International is a global alliance of PLWRD that aims to advocate for rare diseases as an international public health priority. They have spearheaded many great initiatives including their recently launched campaign for a World Health Assembly (WHA) Resolution on Rare Diseases. Anyone can participate in this campaign and every voice counts!
How You Can Learn and Raise Awareness
I can honestly say, from both my personal and professional experience, that shining light on both visible and invisible conditions can lead to positive change and hopefully result in a more caring society.
As a general rule, believe people when they talk about their symptoms, listen to them, and don’t try to minimize their feelings. This can make a huge difference to someone.
If you would like to learn more about rare diseases, you can take a look at my article where I share my top 5 sources for reliable rare disease information. I’m also more than happy to talk to you about all things rare disease and mental health. You can email me at natasha@caretently.com or send me a message on LinkedIn or Instagram.
Celebrate Rare Disease Day on February 28, 2025
Finally, make sure to celebrate Rare Disease Day wherever you are in the world and become an ally to the rare disease community! Rare Disease Day is an international event that takes place on the last day of February every year. It aims to raise awareness and ignite positive change for the 300 million PLWRD worldwide. For more information (including downloadable resources and a list of events in your area), visit their website: rarediseaseday.org.
Natasha Barr in Paris, France
Photo credit: @_photoshootparis_
About Natasha Barr, Creator of Caretently Health Communications
Natasha is a medical writer, translator and content creator with a passion for helping raise awareness about rare and chronic diseases as well as mental health. Originally from Vancouver, British Columbia, Canada, she moved alone to Paris in 2010 after having admired the city from afar for most of her life.
She worked at Orphanet and VASCERN in Paris before starting her own small business in 2022. In her spare time she loves traveling (mainly back to Canada to visit family/friends) and experiencing new cultures and cuisines with her partner. She is happiest either on a beach reading a good book, floating through the beautiful streets of Paris or grabbing a bubble tea/singing karaoke (especially old school hip-hop and R&B) with friends.
She is bilingual in English and French and is currently learning Mandarin Chinese.
Contact
Email: natasha@caretently.com
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Website: https://caretently.com/