Global PWS Registry Debuts as Part of Prader-Willi Syndrome Awareness Month
Washington, D.C. and Pasadena, Calif.—May 4, 2015—The Foundation for Prader-Willi Research (FPWR) and National Organization for Rare Disorders (NORD)® today launched the Global Prader-Willi Syndrome Registry, a new database to accelerate research and cures for the rare disease Prader-Willi Syndrome.
The Global PWS Registry creates a platform for patients around the world to share information about PWS with researchers on developmental history, medical complications, and quality of life.
NORD President and CEO Peter L. Saltonstall said the Global PWS Registry addresses what is widely recognized as one of the greatest needs and inherent challenges of the rare disease community – natural history data to help medical researchers better understand how diseases develop and progress over time.
“The Global PWS Registry will provide a complete picture of each patient’s experience with Prader-Willi,” said Foundation for Prader-Willi Research Executive Director Susan Hedstrom. “We are launching this initiative to help fill the missing link researchers and medical experts need to advance research and get to a cure.”
To help drive awareness and participation, FPWR has created a custom Facebook Profile Pic creator that will allow participants to promote the registry: http://www.fpwr.org/pic-creator. This is one of many activities planned for Prader-Willi Awareness Month.
“Our goal is to enroll as many patients, or their parents or legal guardians, as possible,” said Hedstrom. “The success of the registry is dependent upon community participation.” read more >
Fallon was born on October 10, 2013, at 4:44 a.m. Minutes later, she was whisked away from her parents and the decision was made to send her to another hospital with an experienced NICU. In less than 24 hours, she was moved to a third hospital, Morgan Stanley Children’s Hospital in New York City, which had a yet potentially life-saving heart and lung bypass machine called an ECMO machine. Fallon arrived with minutes to live.
Fallon passed away a few days later, on October 21. “We held her while she took her final breath; a moment we will never, ever forget,” said Kristen.
It was not until two months later with Fallon’s final autopsy results that a lung biopsy revealed Fallon had died from a rare disease called Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.
ACD/MPV is a rare, incurable lung disease that is apparent at birth. It affects the development of the lungs and their blood vessels. Without a lung transplant, ACD/MPV is fatal. Babies are not likely to survive long enough waiting for a donor (another infant), and even less likely to survive the transplant.
The cause is not known. Only 400 known cases have been identified worldwide since ACD was discovered in 1947.
Since Fallon’s death, Kristen has set out to raise money for ACD research.
“If even one baby can be saved based on that research – we would be so happy,” said Kristen.
To make this happen, Kristen and her family teamed up with the ACD Association, a group of parents around the world who have lost a child to ACD. read more >
The final 2015 State House Event took place yesterday. Now that all of the numbers are in, take a look at (and share!) this year’s highlight reel & recap:Together, we planned and hosted 32 State House Events in capitol buildings across the U.S., up from last year’s 12 State House Events
With all of our efforts, Rare Disease Day continues to grow! Thank you to everyone who planned and attended events, joined the social media campaign, changed their profile photos, shared infographics, and got involved. As the official U.S. sponsor of Rare Disease Day, NORD thanks everyone who came together to support this truly community and group effort. Together, we are strong!
Keep the Momentum Going read more >
Rare Disease Day is here! Celebrated on the last day of February–the rarest day on the calendar–this is the one day every year when the world comes together to improve the lives of people living with rare diseases.
NORD is proud to work with our partners as the official sponsor of Rare Disease Day in the U.S. Here are a few ways you can get involved to help make this the most impactful Rare Disease Day yet.
Social media awareness - Together we can grow awareness. Change your profile picture to the ”I SUPPORT Rare Disease Day” badge (pictured) and encourage others to do the same. Share photos, updates and videos using the hashtags #RDD2015, #RareDiseaseDay and #1in10. You can find us on Twitter @RareDayUS, Facebook /RareDiseaseDay.US and instagram @rarediseasedayUS.
The presentation will be webcast and can be viewed online at https://videocast.nih.gov/.
RareDisease Dialog is the official blog for the National Organization for Rare Disorders (NORD). NORD’s staff and friends will share information of interest to the entire rare disease community.
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