Rare Disease Week

This Thursday is Rare Disease Day 2018! Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives.

WHAT? The campaign targets primarily the general public and also seeks to raise awareness among policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.

WHY? Building awareness of rare diseases is so important because 1 in 20 people will live with a rare disease at some point in their life. Despite this, there is no cure for the majority of rare diseases and many go undiagnosed. Rare Disease Day improves knowledge among the general public of rare diseases while encouraging researchers and decision makers to address the needs of those living with rare diseases.

You can learn more and “share your rare” here: https://www.rarediseaseday.org/

 

In honor of Rare Disease Day, the APF will be represented at Rare Disease Week on Capitol Hill. Kristen Wheeden and Edrin Williams will lobby with legislative representatives on issues related to Porphyria.

In addition, APF members Jennifer Beck (epp) and Lina Rebeiz (AIP) will help Dr. Mark Korson promote awareness and education about porphyria and other rare disorders for the Honors Rare Disease Day Speaker Series as part of Rare Disease Day - February 28. In this series , patients inform medical audiences by telling their stories. This year's series includes porphyria engagements at:

 

-Tue Feb 27 - Yale-New Haven Medical Center, New Haven, CT

(erythropoietic protoporphyria)

-Wed Feb 28 - University of Vermont Medical Center, Burlington, VT

(acute intermittent porphyria)

 

SHADOW JUMPERS ALERT!!

LIGHT THE MOMENT 2018 applications are due today. If you are still interested in applying, you can find the application here:

/content/light-the-moment-2018

This year, we will be selecting one family for an all-expenses paid trip to Walt Disney World in Orlando, Florida. This trip will include transportation, lodging, meals and making every step possible in the park EPP- friendly. We’ll handle the sun, you can bask in all the wonder of Mickey, Minnie and the gang!

 

Research

The phase 3 trials for Givosarin are going on now. The purpose of this study is to evaluate the use of this medication to prevent or reduce attacks and symptoms in those with an acute porphyria (AIP, HCP, VP, ADP). If you are interested in participating for this exciting new trial, call Edrin at the APF 713.266.9617 or 1.866.APF.3635

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