According to the US Food and Drug Administration (FDA), a rare disease or disorder refers to a condition that affects less than 200,000 people. Some rare diseases — like Ribose 5-phosphate isomerase (RPI) Deficiency and Fields’ Disease — have only ever been diagnosed in two or three individuals in the whole world. That’s why the European Organization for Rare Diseases initiated Rare Disease Day on February 29, 2008, intentionally placing the date on a day that only occurs once in four years.
While this event’s primary goal is to raise awareness for rare diseases, it is also meant to generate positive change for afflicted individuals as well as offer resources to help fuel their support system (i.e. family and friends). Despite the official date only occurring on leap years, Rare Disease Day continues to be held worldwide on the last day of February every year in collaboration with other institutions such as the USA’s National Organization for Rare Disorders (NORD) and the Canadian Organization for Rare Disorders (CORD).
What Challenges Do People with Rare Diseases Face?
In comparison to more wide-spread illnesses such as cancer or heart conditions, rare diseases often go unnoticed in the media and subsequently the healthcare industry. This, in addition to other unique barriers such as inadequate information on their condition to lack of treatment and qualified support, unfortunately, individuals with rare diseases face numerous challenges.
Difficulty Obtaining An Accurate Diagnosis
Many physicians are trained to recognize more obvious health issues, hence, “If you hear hoofbeats, think horses, not zebras,” is a common saying among healthcare providers. This phrase is intended to prevent providers from going down medical rabbit-holes when the actual diagnosis may be something much less complicated. However, this blind spot makes it difficult to diagnose rare, life-threatening disorders correctly and can often lead to professionals ignoring important indicators of a more serious condition in lieu of a simple answer.
Limited Therapy Options
Even with an accurate diagnosis, individuals with rare diseases may not find a suitable therapy plan for their condition. Only about 300 out of the 7,000 rare medical conditions have therapies tailored to them and the odds of those treatment plans being local to the afflicted individual are slim. Thus, being part of a smaller patient group often means the needs of people with rare diseases are unmet.
Thankfully, the rise of digital healthcare, such as virtual appointments through telehealth, can help to break a few barriers by linking patients with the appropriate providers far and wide. Additional technology-enabled solutions like the tools bundled into Raintree’s all-in-one platform for therapy and rehab, can reduce providers’ workloads as well as allow more time to address and research the unique needs of these patients.
Little Or No Research On The Disease
The rarity of many of these diseases often works against the afflicted individuals, not only when it comes to poor media attention, lack of provider knowledge and less available therapy treatment, but also minimal research capabilities. Some diseases only affect a handful of people in the entire world and more are still being discovered, making it extremely difficult to secure the resources needed to study these conditions in-depth.
Fortunately, there has been significant progress in rare disease research over the past few decades, both in terms of patients’ willingness to participate and the availability of opportunities. In fact, nearly nine out of ten (88%) people with rare diseases would consider taking part in investigational treatment today, compared to 62% three decades ago.
How Can You Participate In Rare Disease Awareness Day?
Various organizations worldwide conduct events and provide opportunities for you to participate in Rare Disease Day, whether you are a patient, family member, therapy provider or sympathizer. For starters, check out NORD’s RareDiseases.Org or the Rare Disease Europe (EURORDIS) RareDiseaseDay.Org website.
After learning more about this annual day of advocacy, you can get involved by:
- Sharing your story: Are you living with a rare disease? Sharing your story may offer strength to other patients with similar issues in addition to drawing more attention to the condition.
- Joining the campaign: Do you want to know more about what makes a disease rare and be part of the awareness day? RareDiseaseDay.Org helps locate participating opportunities near you by simply submitting your country and the type of event you want to join.
- Donating: Visit Donation.RareDiseaseDay.org to schedule a single or recurring donation.
- Submit an event: NORD helps you set up an event and get the word out for people to participate.
- Shop: The Rare Disease Day shop makes it easy for you to advocate through posters and clothes for various ages, from children to adults. Items come uniquely decorated with stripes because a zebra is the symbol of rare diseases in the United States.
- Light up: NORD lets you know “how to light up for rare” in your home or on another building and share pictures on social media. They also follow up and make sure your effort doesn’t go unnoticed.
With your help, people with rare diseases can look forward to a world with more information on their condition, access to life-saving research, the ability to pursue customizable therapy solutions and innovative new products. Advocacy efforts can also help promote greater collaboration between agencies such as the FDA and European Medicines Agency (EMA) to help lower the cost of clinical trials and therapies.