Rare Disease Day 2020
Rare Disease Day is celebrated on the rarest day of all: the last day of February. With events in over 100 countries, Rare Disease Day quickly became a global tradition, a symbol of the need to unify persons affected by rare disorders worldwide. The key facts in rare disorders are striking:
- there are over 300 million people living with a rare disease worldwide
- over 6000 rare diseases have been identified (a recent publication lists over 10,000)
- of the known rare disorders, 72% are genetic and 70% start in childhood
- less than 5% percent of these disorders have an approved treatment
- in developed countries, the diagnostic process on average takes five years
While these numbers can seem overwhelming, there is much to be hopeful about. In recent years there has been phenomenal uptake on research efforts in rare disorders, resulting already in approved therapies in areas such as Spinal Muscular Atrophy (SMA) and Duchenne Muscular Dystrophy (DMD). In addition, new therapies have revolutionized the treatments of disorders such as Cystic Fibrosis (CF). Scientific advances in areas such as gene therapy are being applied to multiple rare disorders in an unprecedented breadth of research and development. And yet, parallel to hope and excitement for new developments, we must keep in mind that there are still too many unaddressed disorders, and most of all that it is important to recognize the issues patients and families face when dealing with a rare disorder.
In most instances, the patient experience in rare disorders starts with a confounding feeling that something is wrong. Sometimes this can be easily substantiated, other times it is a long road to secure the attention of the right specialist. The isolation and stigma experienced even just through the diagnostic process can be overwhelming. When a diagnosis is obtained, there is often a sense of relief and validation, but too often that is accompanied by discouraging prognosis. In part due to lack of knowledge, patients and families find themselves alone with a computer, seeking answers. In this process, they often find something unexpected: community. Whether it is finding a community specific to that disorder or finding groups that offer support and guidance on rare disorders, there is a universe of connection, information, hope and opportunities. Bridging the gap between the moment when someone realizes something is wrong and the connection with an appropriate support community is one of the key challenges in rare disorders.
Since its launch in 2008, Rare Disease Day has continued to play a vital role in ensuring global awareness-raising amongst the general public and key health care stakeholders, an essential component to the progress we see today in the rare disease community.
We at VOZ Advisors are honored to support Rare Disease Day and celebrate this year’s theme: “Rare is Many, Rare is Strong and Rare is Proud.”
There are many ways to help spread the word: you can share a photo with your hands painted in the Rare Disease Day colors online using the hashtag #rarediseaseday. You can share your own experience and unique story on social media. Other ways of raising awareness include hosting events, sharing the statistics, inviting government officials to visit your organization, and advocating to policymakers that people living with a rare disorder deserve equitable access to diagnosis, treatment, care and social opportunity.
We need to stand hand in hand, in solidarity, to ensure every voice is heard!
Learn more by visiting the Rare Disease Day website.
About The Author [ Juliette Rothera ]
Juliette Rothera is the Marketing and Operations Associate at VOZ Advisors. Juliette is in charge of the social media and marketing strategy, as well as conference strategy. She also offers logistical support.