NORD News for April - The Voice of the Community

News from NORD and its Member Organizations – April 2017

Running for Rare Team Highlights Rare Diseases in Boston Marathon

The Running for Rare Team made an outstanding showing at the 2017 Boston Marathon, with 14 runners and a large cheering section of NORD staff and rare disease Community Partners, who are patients, caregivers and patient advocates. The team runs marathons and half-marathons at locations across the US to promote awareness of rare diseases and to raise funds for NORD’s program to help pay for medical testing for applicants to the NIH Undiagnosed Diseases Network.  
The next stop for the team will be the Providence Marathon and Half-Marathon on May 7, followed by the TCS New York City Marathon on November 5. Runners who are interested in joining the team may write to Anyone interested in becoming a Community Partners may fill out the form on the NORD website. 

The Running For Rare Team and Community Partners promoted rare disease awareness at the 2017 Boston Marathon.

Register Online Now for NORD’s Rare Impact Awards The Rare Impact Awards honor individuals and organizations for extraordinary contributions to help others in the rare disease community. The 2017 Rare Impact Awards will be hosted on Thursday, May 18, in the amphitheater of the Ronald Reagan Building and International Trade Center, the largest structure in Washington DC.
The event, which is open to all, serves as a fundraiser to support NORD’s mission of providing education, advocacy, patient support and research to help all people with rare diseases. View the 2017 Rare Impact Award honorees and register online.

NORD Names New Director of Membership

Debbie Drell, who has more than 18 years of nonprofit experience in public health education, awareness and advocacy, has been named Director of Membership at NORD. She will oversee NORD’s membership programs, which support the collective and individual needs of rare disease patient organizations, patients and patient advocates through education, research, advocacy and mentorship.

Largest-Ever Study of Organic Acidemias Launched

The Organic Acidemia Association, in partnership with NORD, has launched the largest-ever study to research rare organic acid disorders that cause multiple life-threatening conditions. Currently, there are no cures for organic academia disorders. The OAA Natural History Patient Registry will collect information about the patient experience and disease progression. Patients or their caregivers or guardians can enter information from anyplace in the world.
The study was launched on a natural history study platform developed by NORD. The study was made possible through a cooperative agreement between NORD and the US Food and Drug Administration (FDA).

Natural History Study of Pemphigus and Pemphigoid is Launched

A natural history registry that will provide a complete picture of each patient’s experience with pemphigus and pemphigoid has been launched by the International Pemphigus and Pemphigoid Foundation with NORD. The goal is to enroll as many patients and parents or legal guardians as possible to provide information that will help advance research. There is currently no cure for pemphigus and pemphigoid, which are rare, autoimmune diseases involving blistering of the skin and mucosa.

NORD Rare Action Network™ Releases State Policy Legislative Tracker

The Spring 2017 State Policy Legislative Tracker shows – state-by-state – legislation that is being tracked to improve the lives of those affected by rare diseases. Currently, action is underway in 42 states and the District of Columbia.


American Behcet’s Disease Association
May is International Behcet’s Awareness Month, and May 20th is Behcet’s Awareness Day. Behcet’s disease is a rare, chronic, autoimmune, inflammatory disease of unknown origin.
American Partnership for Eosinophilic Disorders (APFED)
National Eosinophil Awareness Week (NEAW) is May 14-20. The purpose is to educate both the public and the medical community about eosinophil-associated diseases. Join APFED as they step up efforts during NEAW to teach others about eosinophil-associated diseases, an emerging healthcare problem worldwide, and how lives are affected by these diseases.
Children’s Tumor Foundation
The Children’s Tumor Foundation celebrates NF (neurofibromatosis) Awareness Month and World NF Awareness Day (May 17th) to focus attention on NF, foster hope in the community, and create fundraising opportunities for innovative NF research supported by the Children’s Tumor Foundation. Watch this video to see what was done in 2016.
Cornelia de Lange Syndrome (CdLS) Foundation
National CdLS Awareness Day is observed the second Saturday of May each year to shed light on this often misdiagnosed, little-known genetic syndrome. Find more information here.
Erdheim-Chester Disease Global Alliance
May 15 is the deadline to submit letters of intent for up to $50,000 in funding for basic science or clinical research projects to improve diagnosis or patient outcomes of Erdheim Chester disease. For more information, visit the website or write to
The ECD Patient & Family gathering on October 27 helps those affected by Erdheim-Chester disease increase their knowledge of this condition, learn how to advocate for themselves in a healthcare system often unaware of their illness, and share fellowship among patients and caregivers. Learn more and register. Questions may be directed to Jessica Corkran at
The ECD Medical Symposium on October 26 will unite medical professionals from around the world to share scientific findings, patient outcomes and case studies, as well as new developments related to Erdheim-Chester disease. Abstracts for presentations are due August 1. Registration is now open.
Immune Deficiency Foundation (IDF)
IDF seeks to connect with individuals or families who have received a definite diagnosis of WHIM syndrome to help with the development of programs and resources for those affected by this disorder. If you or someone you know has this diagnosis, please write to
The Immune Deficiency Foundation, which is the national patient organization for people with primary immunodeficiency diseases (PI), brings together the community each year for a three-day conference. The 9th Naitonal Conference will take place in Anaheim, California. Monday, May 1, is the pre-registration deadline. The event brings together physicians, nurses, affected individuals, families and others. Click here for information and registration.
International FPIES Association
May 4th is National FPIES Awareness Day. Help the International FPIES Association raise awareness about FPIES by spreading the word about this day. Click here for information about the day and how to show your support.
The Myositis Association
Myositis is a rare autoimmune disease of the muscles, the several forms of which are believed to affect approximately 50,000 Americans. Myositis causes severe muscle pain and weakness, difficulty moving and standing, chronic disability, debilitating skin rashes and other symptoms. May is Myositis Awareness Month, and The Myositis Association is dedicated to helping educate both patients and the medical community about this chronic, debilitating group of diseases.
National MPS Society
May 15th is MPS Awareness Day. For more information on ways to get involved, click here.
Ocular Melanoma Foundation & A Cure in Sight
May is Melanoma Awareness Month. As part of this observance and in collaboration with A Cure in Sight, the Ocular Melanoma Foundation will lead “Eye Patch Day for OM awareness. On Friday, May 20, OM Warriors around the globe will wear eye patches to raise awareness for ocular melanoma. Please join OMF and A Cure in Sight in promoting awareness.
Platelet Disorder Support Association (PDSA)
The Platelet Disorder Support Association will present the 17th annual update on immune thrombocytopenia (ITP) for patients, caregivers and the medical community on July 28-30 at the Sheraton Grand at Wild Horse Pass in Chandler, Arizona. Click here for more information.
PRISMS – Parents and Researchers Interested in Smith-Magenis Syndrome
PRISMS is accepting applications for a two-year post-doctoral research grant to support research on Smith-Magenis syndrome. Funding is available up to $75,000 per year for two years to investigators at academic and research institutions in the US. Additional information is available here.
Pulmonary Hypertension Association (PHA)
The Pulmonary Hypertension Association is again joining forces with PH-community serving organizations around the world to recognize World PH Day, observed on May 5th each year since 2012. For information, click here.
Spinal CSF Leak Foundation
Clinicians, researchers and patients are invited to register now for a full-day multidisciplinary Intracranial Hypotension Symposium. Top clinicians and researchers will share the latest advances in diagnostics and treatments of this underdiagnosed, disabling but treatable secondary headache disorder. The symposium will take place at Cedars-Sinai in Santa Monica, CA. 
Transverse Myelitis Association
Registration is now open for the 2017 Rare Neuro-Immune Disorders Symposium (RNDS) to take place on October 20-21 in Columbus, Ohio. This education and advocacy conference is for individuals, caregivers and families affected by acute disseminated encephalomyelitis (ADEM), neuromyelitis optica spectrum disorder (NMOSD), optic neuritis (ON), and transverse myelitis (including the subtype acute flaccid myelitis). Click here for information and to register.
Tuberous Sclerosis Alliance
May 15 is Tuberous Sclerosis (TSC) Global Awareness Day, when people around the world work together to spread awareness about tuberous sclerosis complex or TSC. Visit the TS Alliance website for information about what’s planned and how to get involved.
Worldwide Syringomyelia Task Force
May is Syringomyelia Awareness Month. Visit the Worldwide Syringomyelia Task Force website to read about special activities during the month and the Syringomyelia and Chiari Worldwide Registry, which has been developed in collaboration with NORD.
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