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February 2015 eNewsletter

FEBRUARY 2015



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World Rare Disease Day 2015

Dear NNPDF Families and Friends,

Did you know that an estimated 30 million Americans are affected by a rare disease?!  Special challenges face those with a rare disease such as Niemann-Pick Disease, in getting a diagnosis, gaining access to appropriate treatment, finding support resources, and in advancing essential research.  A disease or disorder is defined (in the U.S.) as rare if it affects fewer than 200,000 Americans at any given time.

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Day by Day, Hand in Hand
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Rare Disease Day is an annual event, observed worldwide on the last day of February, to raise awareness of rare diseases as a public health issue. Groups around the globe are strategizing their advocacy and awareness efforts in support of World Rare Disease Day, to be observed on February 28, 2015. 


The National Organization for Rare Diseases (NORD)
 is the sponsor of Rare Disease Day in the United States, and EURORDIS is the sponsor in Europe.  The National Niemann-Pick Disease Foundation is a Rare Disease Day Partner with NORD, and we support the observance of World Rare Disease Day among our members.

Easy ways to show your support for all affected by rare diseases, including Niemann-Pick Disease:

  • Share the NNPDF Awareness Facebook Group highlighting Feb. 28th, 2015, as World Rare Disease Day.
  • Join the NNPDF Blog.  Sign up for the RSS feed (“Subscribe via Feedburner” at the blog) to receive an email notice when the blog is updated.
  • Use Good Search as your internet search engine.  Each search conducted triggers a one cent donation to the NNPDF — all those pennies can add up!
  • Sign up to be a Rare Disease Day Ambassador and use RDD logos on your Facebook page, blog, etc.
  • Wear jeans to school or work on Friday, February 28th in support of the Global Genes Project.
  • Share your rare disease experience with others.  Post links to the NNPDF site and the NORD site on your Facebook page to raise awareness of the plight of those affected by rare diseases.
  • Make a meaningful impact and reach out to your local media by sharing your story, bringing their attention to rare diseases and related needs such as research.
  • Distribute PERSEVERE wristbands to your family and friends to wear in a sign of solidarity in the battle against Niemann-Pick Disease and all rare diseases.
  • Request custom Facebook and Twitter graphics to share with friends and family over social media!

Keep an eye on the World Rare Disease Day web page for additional updates as we get closer to February 28th, 2015.

 


WORLD Symposium ~ 2015

“We’re Organizing Research for Lysosomal Diseases”

From left to right: Gerald Cox, M.D. (Genzyme), Ana Cristina Puga, M.D. (Genzyme), Nadine M. Hill (NNPDF), Sandra Cowie (NNPDF), Dr. Melissa Wasserstein (Mt. Sinai School of Medicine), Jim Green (INPDA), Dr. Elizabeth Thurberg (Genzyme), Simone Azevedo (Genzyme), Marie-Helene Jouvin (Genzyme), & Alan Gilstrap (Genzyme)

Members of the National Niemann-Pick Disease Foundation (NNPDF), Canadian Chapter of the National Niemann-Pick Disease Foundation (CCNNPDF), International Niemann-Pick Disease Alliance (INPDA) and the International NNPDF Scientific Advisory Board attended the WORLD Symposium in Orlando, Florida ~ Tuesday, Feb 10th ~ Thursday, Feb 12th, 2015. The attendees filled a variety of roles tied to our patient advocacy membership representation, presentations of research and keynote speakers for symposiums addressing the next generation of lysosomal disorders: Treatment, Biomarkers and Talent needed to succeed in the Future.

The goal of the WORLD (We’re Organizing Research for Lysosomal Diseases) symposium is to provide a forum to discuss the challenges to research and development of treatments for patients with rare diseases, and to identify opportunities to support the advancement of therapeutic options. Clinicians and researchers who work with lysosomal diseases will have the opportunity to learn about the progression of research and therapy approval processes for a variety of different diagnoses and therapies via face-to-face lectures and in-depth discussion with a panel of experts. This symposium is designed to help patient advocates, scientists, clinicians and other health care professionals identify what resources and actions will be needed to move lysosomal disease research forward.

Research includes:

To see all the Niemann-Pick related research presented at the conference, visit the 2015 NNPDF WORLD Symposium web page.

For more information on this conference, visit the official WORLD Symposium web page.

For additional research links NNPDF funded research, visit:

Fellowships jointly sponsored by the NNPDF and CCNNPDF

Research Grants jointly sponsored by the NNPDF and CCNNPDF


Expanded Access ~ Compassionate Use

Expanded access, sometimes called “compassionate use,” is the use outside of a clinical trial of an investigational medical product (i.e., one that has not been approved by FDA).

For our NPD community, we are providing an article below regarding compassionate use, as well as, an updated web page on the FDA website regarding Expanded Access.

On the FDA page, you will find general information about expanded access, followed by more detailed information on individual patient access to investigational drugs (including biologics), referred to as a single patient investigational new drug (IND).

CLICK HERE to read the BioCentury Article Titled “Viral Crossroads” by Steve Usdin/Washington Editor

CLICK HERE to visit the FDA Expanded Access web page


Webinar ~ Young Adult Patients Transition to Medicare

The New York Mid-Atlantic Consortium for Genetic and Newborn Screening Services will be holding online webinars on transitioning of patients with special care needs to adult medicare.

Participants will acquire the tools and understanding necessary to care for young adults with special health care needs who are transitioning from pediatric to adult care providers. Patients and families are encouraged to attend to better understand their role in medical care transition.

Webinars are being held on February 25th & March 11th, 2015 – visit the link below for local times available


$100,000 Online Challenge for NPC Research

NPD Community Worldwide Unite to Garner $100,000 for NPC Research!

Vote Daily ~ Vote Matt Painter!

We have an unparalleled opportunity to raise $100,000 towards NPC research, but it will only happen if YOU take action and encourage others to do the same. It’s easy! Vote once a day online between now and March 15th to push the Trent and Julie Smith Family Foundation “BReaK Thru Fund” (three of their children have been diagnosed with Niemann-Pick Disease) for NPC research to the finish line and the top prize of $100,000.

Click Here to Vote for Matt Painter!

Matt Painter, Purdue University Coach and the Smith Family BReaK Thru Fund are working together with the NPC community to vote Matt Painter into the final round! With your help, NPC research could garner $100,000, but only if you vote daily! We CAN do this if everyone gets behind this project.

The third round of voting opened on February 16th, 2015 and continues through March 1st, 2015 when 4 Coaches out of the initial 48 will advance to the final round.  Vote daily for Matt Painter to ensure he makes it to the final round!

Share this with your families, share this with your friends and encourage them to do the same.

Alone we are rare, but together we are strong!


2015 NNPDF Annual Board Meeting & NNPDF / CCNPDF Board Retreat

The 2015 Annual Board Meeting of the National Niemann-Pick Disease Foundation (NNPDF) will be held on Thursday, March 12th thru Sunday, March 15th, 2015, in Chicago Illinois. The NNPDF Board of Directors will be joined by the Board Members of our sister-chapter, the Canadian Chapter of the National Niemann-Pick Disease Foundation (CCNNPDF) for a board development and retreat meeting. All family members of the NNPDF are welcome to attend and encouraged to join us as we recap the year past and plan for the months and years ahead!  If you are interested in attending the annual meeting and taking part ~ please contact the NNPDF Central Offices for more details. 920-563-0930 ~ nnpdf@nnpdf.org


9 8.16

PO Box 49, Fort Atkinson, WI 53538-0049
Phone: 920-563-0930  |  Toll Free: 877-287-3672
nnpdf@nnpdf.org | www.nnpdf.org

JOIN THE NNPDF     DONATE TO THE NNPDF


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