SEARCH

It is time for us to “Reframe Rare” this Rare Disease Day – come help us!

Those who browse this site will likely know that most diseases which cause periodic fevers are known as rare. But for some, this may be the first time they have encountered rare diseases.

In Europe, any disease that affects fewer than 1 in 2,000 people is classified as a rare disease. There are over 6,000 recognized rare diseases – some, like HIDS, only affect a few hundred of people worldwide. However, altogether over 300 million people and their families are impacted by a rare disease globally.1,2

Not only is there is a huge diversity of disorders and symptoms from disease to disease, but the experiences of those affected by the same condition can vary greatly. Because of the rarity of these diseases and often the differing manifestations experienced, diagnosis can be difficult, and misdiagnosis is unfortunately common.

To bring more recognition and awareness to this issue, Rare Diseases Europe (EURORDIS) organized the first Rare Disease Day in 2008, a day focused on spreading awareness about rare diseases and their impact on the lives of those with rate diseases. This year, Rare Disease Day is taking place on the 29th February - the rarest of days in the calendar. People with rare diseases, their families, patient groups and organizations around the world will be calling to “Reframe Rare,” a message that reframes perceptions of what it means to be “rare” through events and awareness activities.

In support of this important cause, the Novartis periodic fever community are proud to be actively hosting and participating in a broad selection of fantastic activities to raise awareness across the globe, including those below. Come join us and be part of these these events to spread awareness of rare diseases and help “Reframe Rare”. If you are helping to raise awareness elsewhere, share a picture of you in action on the Periodic Fevers Facebook page to inspire others in the community! And finally, if you would like to take part in an event but are unsure where to start, visit Rare Disease Day at https://rarediseaseday.org/events/world to find an event near you.

  • In Belgium, members of the national rare disease organization, RaDiOrg, will be busy folding origami edelweiss’s (a rare alpine flower) to form a vast flower carpet in the heart of Brussels – you can learn more here.
  • There will be two great events taking place in Spain this year. The first, on 21 February, the team are supporting an event that will bring together groups of female researchers and patient representatives who are committed to informing and educating the society at large on rare diseases. Look out for media coverage about the event on what was covered and key ways to raise awareness. Secondly, on March 6 the School of Pharmacists in Valencia will host a roundtable on rare autoimmune diseases, again bringing together experts, people with a rare disease, caregivers and the interested public with support from Novartis. Look for media coverage by Stop FMF after this event!
  • In Germany, the team are supporting a special medical publication in ÄrzteZeitung that will raise awareness of periodic fevers among healthcare professionals to help them recognize and diagnose those with a rare disease. So keep an eye out for the publication – we’ll share a link to it here soon!
  • In Russia, Novartis is partnering with the Sunflower foundation to organize fun and educational activities for children and parents at two medical centres in Moscow.

We look forward to sharing more information with you on these events above and sharing information on living with periodic fevers over the coming weeks and months.

But in the meantime, as the mantra of Rare Disease Day goes: “Rare is many, rare is strong and rare is proud” and together, we will work with you and for you to help improve the lives of all living with a rare disease.

References:

  1. Rare Disease Day 2020 information pack. EURORDIS Rare Disease Day Website. http://download2.rarediseaseday.org/2020/infopack-2020.pdf. Accessed on February 2020
  2. Nguengang Wakap S et al. 2019. European Journal of Human Genetics, 28, pages 165–173(2020)
Learn more about HIDS (hyperimmunoglobuiln D Syndrome)

HIDS is a rare auto inflammatory disease, and one of the periodic fever syndromes that presents in early childhood.

LEARN MORE
Periodic Fevers

December 2015 - GLDEIM/ACZ885/0044