Louise Fish: Why Rare Disease Day is so important


In honour of Rare Disease Day our CEO, Louise Fish, took the time to explain why today is such an important day for the millions of people affected by a rare disease worldwide, including people living with TSC:

Rare Disease Day (28 February 2019) is an important opportunity for everyone in the rare disease community to come together and highlight the common challenges faced by those affected by a rare disease, allowing us to drive policy and social change.

Rare disease organisations and communities from more than 90 countries worldwide are taking part in Rare Disease Day 2019, including the Tuberous Sclerosis Association (TSA) and the Tuberous Sclerosis Complex (TSC) community that we serve. We are proud to support Rare Disease Day and this year’s event marks the first time that the TSA has been an official ‘friend’ of the awareness day, increasing our influence in policy and advocacy campaigning to better represent and fight for those affected by TSC.

The global burden of rare diseases in numbers
Whether looked at on a local or global scale, rare diseases can have a significant social and health impact. There are over 7,000 diseases classified as being rare, over 350 million people are affected by a rare disease worldwide, and 1 in 20 of us lives with a rare disease at some point in our lives.

Rare Disease Day gives the millions of people affected by rare diseases a single platform to join as one so that the impact of a rare disease can be better understood, with different voices coming together to form a single and powerful choir of support.

A person living with a rare disease may go their entire life and never meet another individual who is affected by the same condition. Rare Disease Day allows people to connect with others as, even if a single disease community is extremely small, the wider rare disease community is significant. The TSA understands just how vital this connection with others can be, with our flagship annual events throughout the UK giving people whose lives have been impacted with TSC the opportunity to engage with others affected by the condition.

Diverse impact, similar challenges
Although the causes, symptoms and effects of two different rare diseases may be very different, the common challenges faced as a result of living with a rare disease can often be similar. For example, diagnosing a rare disease can often take years, with a struggle to access appropriate medicine and care once a diagnosis is finally made. The Rare Disease Day 2019 theme “Bridging Health and Social Care” illustrates this issue, as a smooth transition from diagnosis and treatment of a rare disease to managing its impact on daily life is so important.

At the TSA, one of our most recent health and social care projects has been developing a summary for the first ever UK clinical guideline on TSC care. We believe that actively involving people living with TSC in making decisions about their own care, treatment and support can help people to stay well and manage their own condition better. Through this guideline summary, we hope that the assessment and treatment of people living with TSC in the UK will improve.

Uniting and learning under a single banner
Rare Disease Day gives people affected by a rare disease the chance to come together and drive a global call on policy makers, healthcare professionals and care services to better coordinate all aspects of care for people living with a rare disease. Through Rare Disease Day, often small and localised groups can call for changes and reform alongside other groups of their size, ultimately benefitting individuals and whole groups affected by a rare disease that may have not been possible if done separately.

Today, I hope that you can join me and #ShowYourRare by supporting Rare Disease Day 2019. You can see what the TSA has planned for Rare Disease Day 2019 on our social media platforms and website.