RDD2018 : Research is Key !

Feb 28 is Rare Disease Day ! Official video 2018

Research brings hope to the millions of people living with a rare disease across the world and their families. About RDD2018 theme.

The main objective of Rare Disease Day (RDD) is to raise awareness among the general public and decision-makers about rare diseases and their impact on patients’ lives.

OrphaNet, portal for rare diseases and orphan drugs, includes the Diethylstilbestrol DES syndrome as rare disease ORPHA:1916.

MORE INFORMATION

How much do you know about DES?

A Rare Disease Day Timeline

From the inception of Rare Disease Day to present day

For the past 35 years, the National Organization for Rare Disorders (NORD) and the Orphan Drug Tax Credit have been doing as much as possible to alleviate the issues and concerns plaguing the rare disease community.

Every February for the past decade, though, patients, family members, and the general public have been encouraged to join in by observing Rare Disease Day. 2018 marks the 10-year anniversary of the inaugural event, and, as always, people around the world are encouraged to inform and educated those around them of rare diseases and their impact on patients’ lives. The infographic takes you from the inception of Rare Disease Day to present day.

2008: A Rare Day
The first Rare Disease Day was held on February 29, 2008 in some European countries and in Canada via the Canadian Organization for Rare Disorders (CORD). The date was chosen because February 29 is rare in that it only comes around every four years. The day was a massive success, filled with walks and press conferences to raise public awareness for rare diseases.

2009: The U.S. Joins
In 2009, Rare Disease Day was observed for the first time in the United States, as well as in Panama, Colombia, Argentina, Australia, and the People’s Republic of China. Governors from 39 U.S. states issued proclamations acknowledging Rare Disease Day, and in Europe, more than 600 patient advocacy organizations participated.

2010: Patients and Researchers: Partners for Life
2010 was the first year that Rare Disease Day had an official theme, and it was emphasized that the occasion would recognize the relationship between patients and researchers. More than 350 patient groups signed on as Rare Disease Day Partners.

2011: Rare Diseases and Health Inequalities
The theme for 2011 was Rare Diseases and Health Inequalities, and events around the world highlighted the differences for rare disease patients around the world. It compared rare disease patients to other segments of society, too, and stressed the need to ensure equal health care and treatment access for all.

2012: Solidarity
Solidarity was the Rare Disease Day theme in 2012, and with the slogan Rare, But Strong Together, and the occasion even attracted the U.S. Food and Drug Administration (FDA). The regulatory agency hosted its first-ever rare disease patient advocacy day, while the National Institute of Health (NIH) sponsored a research symposium.

2013: Solidarity
The Solidarity theme returned in 2013 after a successful 2012, but this time with the slogan Rare Disorders without Borders. Strong worldwide participation proved the effectiveness of the mantra, and EURORDIS co-hosted a Policy Discussion Meeting entitled “Faster Access to Medicines for Rare Disease Patients” with Members of the European Parliament. The assembly was designed to expedite the improvement of treatment access in the context of the revision of the EU Transparency Directive.

2014: Care
Join Together for Better Care was the slogan in 2014, and everyone throughout the rare disease community was encouraged to focus on care. The day commemorated the 30th anniversary of both the Orphan Drug Act and the National Organization for Rare Disorders (NORD), and reflected upon progress to date and ways to accelerate the addressing of unmet needs.

2015: Living with a Rare Disease
Day-by-day, hand-by-hand, rare disease stakeholders, policy makers, and medical professionals are working to make a difference in the community. In 2015, that slogan helped emphasize the struggle that is having a rare disease and the work that needs to be put in to care for patients.

2016: Patient Voice
Patient Voice was the driving force behind Rare Disease Day 2016, and with 85 countries – including first time participants Aruba, Indonesia, and others – hundreds of events were organized by patient groups, making the voice of rare diseases heard louder than ever before.

2017: Research
The slogan for Rare Disease Day in 2017 was With research, possibilities are limitless. Research brings hope to the millions of people living with rare diseases, and allows patients, families and caregivers the access to find answers to questions, no matter how basic, pertaining to a specific disease state.

2018: Research
Building on from the successes of Rare Disease Day 2017, the theme for 2018 is again Research. Rare disease research contributes to the development of diagnostic tools, treatments and cures, as well as improved health and social care for patients and their families. The patient community needs researchers, who are dedicated to the discovery of treatments and cures, and researchers need patient participation to ensure the meaningfulness of their work.

More Information
  • For more information on Rare Diseases, be sure to follow Rare Disease Report on Facebook and Twitter.
  • OrphaNet, portal for rare diseases and orphan drugs, includes the Diethylstilbestrol DES syndrome as rare disease ORPHA:1916.
  • Enjoy our health infographics album on Flickr.
How much do you know about DES?

Embrace Your Stripes

Common symptoms can mask underlying rare diseases and lead to misdiagnosis and a delay of treatment

Since its inception in 2012, Rare Disease Report has stressed the phrase

“When you hear hoofbeats, don’t assume it’s a horse.”

This, of course, is a twist on former Maryland professor’s Dr Theodore Woodward’s instructions to his medical interns. Woodward insisted on thinking horses and avoiding zebras in all diagnoses, because rare diseases are just that – rare.

With RDR’s new infographic, you’ll see exactly why it’s so important to keep an open mind, though. This zebra and the 5 facts that come along with it are constant reminders to look for stripes.

More Information
  • For more information on Rare Diseases, be sure to follow Rare Disease Report on Facebook and Twitter.
  • OrphaNet, portal for rare diseases and orphan drugs, includes the Diethylstilbestrol DES syndrome as rare disease ORPHA:1916.
  • Enjoy our health infographics album on Flickr.
How much do you know about DES?

Rare Disease Day 2018 Poster

Rare Disease Day is open to everyone ; so get involved!

The main objective of Rare Disease Day is to raise awareness among the general public and decision-makers about rare diseases and their impact on patients’ lives.

OrphaNet, portal for rare diseases and orphan drugs, includes the Diethylstilbestrol DES syndrome as rare disease ORPHA:1916.

More information

How much do you know about DES?

RDD2017 : With Research, Possibilities are Limitless!

Rare Disease Day Official Video 2017

Feb 28 is Rare Disease Day !

The main objective of Rare Disease Day (RDD) is to raise awareness among the general public and decision-makers about rare diseases and their impact on patients’ lives.

OrphaNet, portal for rare diseases and orphan drugs, includes the Diethylstilbestrol DES syndrome as rare disease ORPHA:1916.

MORE INFORMATION

How much do you know about DES?

Rare Disease Day Information Pack

Join the international campaign and get involved in raising awareness !

The main objective of Rare Disease Day (RDD) is to raise awareness among the general public and decision-makers about rare diseases and their impact on patients’ lives.

OrphaNet, portal for rare diseases and orphan drugs, includes the Diethylstilbestrol DES syndrome as rare disease ORPHA:1916.

RDD Pack Overview

JOIN THE INTERNATIONAL CAMPAIGN TO RAISE AWARENESS FOR RARE DISEASES.
  • What is Rare Disease Day?
  • 10 Years of Rare Disease Day.
  • The Role of EURORDIS.
  • The Role of National Alliances.
  • How to Raise Awareness.
  • Rare Disease Day Guidelines.
  • Download Materials.
  • Register Your Event and Become a Friend.
  • Tell Your Story and Raise and Join Hands.
  • Download the Info Pack here and the full Web Pack (10 MB) here.

More information

How much do you know about DES?

Rare Disease Day 2017 Poster

Rare Disease Day is open to everyone ; so get involved!

The main objective of Rare Disease Day is to raise awareness among the general public and decision-makers about rare diseases and their impact on patients’ lives.

OrphaNet, portal for rare diseases and orphan drugs, includes the Diethylstilbestrol DES syndrome as rare disease ORPHA:1916.

More information

How much do you know about DES?

Help us Fund Research to Treat and Cure TPP1 Deficiency

Atypical TPP1 Deficiency, CLN2, and Maya : Three Years later

Maya is very much a typical pre-teen who loves Meghan Trainor and Taylor Swift. However, in May of 2014, Maya was diagnosed with a rare disease called Atypical TPP1 Deficiency (aka SCAR7).  Atypical TPP1 Deficiency is a subset of Late Infantile Neuronal Ceroid Lipofuscinosis 2 (CLN2), a form of Batten Disease.  At the time of her diagnosis, Maya was one of eight reported cases in the world. Since her diagnosis, we have learned of ten other people with this disorder.

Atypical TPP1 Deficiency and CLN2 are caused by mutations in the TPP1/CLN2 gene resulting in deficient activity of the enzyme tripeptidyl peptidase 1 (TPP1). In the absence of TPP1, lysosomal storage materials, normally metabolized by this enzyme, accumulate in many organs, particularly in the brain. Buildup of these storage materials in the cells of the nervous system contribute to progressive and relentless neurodegeneration which manifests as loss of cognitive, motor, and other functions.  Patients typically present initially with language delay followed by movement disorders, motor deterioration, dementia, and early death. During the later stages of the diseases, feeding and tending to everyday needs become very difficult.  Currently, there is no cure for TPP1 Deficiency or CLN2.

In May of 2016, the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s Hospital in Houston, Texas announced the commencement of a new research project to explore treatments for Atypical TPP1 Deficiency.  This project is dependent upon Maya’s friends and family for funding.

Get Involved

  • To help fund the research project and to raise awareness about Atypical TPP1 Deficiency we ask that you make a donation directly to Texas Children’s Hospital.  You can do so by giving directly to Texas Children’s. If you donate from this page, funds go directly to the research project for Atypical TPP1 Deficiency/SCAR7.
  • We also ask that you order a #FightingForMaya T-Shirt.  You can do so by going to Booster.com. Once you receive your shirt, we ask that every Friday you show that you are #fightingformaya, by:
    • Wearing your shirt
    • Taking a Selfie
    • Adding the hashtag #fightingformaya
    • and sharing your pic with the world.

    Go crazy, be creative and have fun!!!

“The most beautiful thing about her is her smile. It’s infectious…”

Image via RareDaily.

Thank you for helping to show Maya and others that you stand with them in the fight to find a treatment and cure for Atypical TPP1 Deficiency.

Beau James
bjames358.blogspot.co.uk

9ème Journée Internationale des Maladies Rares

Ensemble, faisons entendre la voix des malades

En France, l’Alliance Maladies Rares, collectif de plus de 200 associations et porte-parole des malades et de leur entourage, organise cet événement dans les régions depuis sa création en 2008.

9e Journée internationale des maladies rares, alliance-maladies-rares.org, 29/02/2016

Evénement annuel organisé un 29 février, jour rare, la Journée internationale des maladies rares est l’occasion d’unir nos forces et de sensibiliser aux défis quotidiens à relever pour Faire entendre la voix des malades ! Pour sa 9e édition, la journée sera relayée par de nombreux acteurs sensibles à la cause des maladies rares dans plus de 85 pays dans le monde. 30 millions d’européens, dont 3 millions de Français, sont concernés par l’une des 6000 à 8000 maladies rares dénombrées.

Le slogan, Ensemble, faisons entendre la voix des malades s’adresse au plus grand nombre afin d’unir l’ensemble des forces pour que les besoins des malades et de leurs familles soient mieux pris en compte et ainsi trouver des solutions communes, obtenir des traitements, des soins, des ressources et des services nécessaires pour améliorer le quotidien des personnes concernées.

Le Distilbène DES, maladie rare, en savoir plus

Rare Disease Day 2016 Poster

Download the RDD infopack 2016

Rare Disease Day takes place on the last day of February each year.

The main objective of Rare Disease Day (RDD) is to raise awareness among the general public and decision-makers about rare diseases and their impact on patients’ lives.

OrphaNet, portal for rare diseases and orphan drugs, includes the Diethylstilbestrol DES syndrome as rare disease ORPHA:1916.

More information

How much do you know about DES?