News Briefs

Six New Members Elected to NORD Board of Directors

Danbury, CT (Sept. 3, 2009)-----Six individuals with expertise in areas related to rare disease awareness and advocacy have been elected to the Board of Directors of the National Organization for Rare Disorders (NORD).  NORD represents the nearly one in 10 Americans with rare diseases.  


“We are thrilled that these individuals have accepted the call to help guide NORD through this important period in its history,” said NORD President and CEO Peter L. Saltonstall.  “NORD is poised for growth at this time.  The patients and families we serve need strong leadership at the national level.  And the role of our Board of Directors is critically important.  We are grateful to these individuals for sharing their expertise.”  


The new board members are:  

• Brenda Duffy, a Founder of Neurofibromatosis, Inc. (http://www.nfinc.org/);
• Emil Kakkis, MD, PhD, President of the Kakkis EveryLife Foundation (http://www.curetheprocess.org/)
• Marybeth Krummenacker, a Founding Board Member of the Cystinosis Research Network (http://www.cystinosis.org/)
• Mary Sprague, Executive Director of Dystrophic Epidermolysis Bullosa Research (DeBRA) (http://www.debra.org/);
• Charlene Waldman, Executive Director of the Paget’s Disease Foundation (http://www.paget.org/); and
• Wendy White, Founder and President of Siren Interactive Corporation (www.sireninteractive.com).

Brenda Duffy is the mother of two children affected by neurofibromatosis, a genetic disorder that causes tumors to grow on nerves and may also affect the skin and bones. Ms. Duffy served on the board of Neurofibromatosis, Inc., for 20 years and was president of the organization from 1998 to 2005. Over the years, in addition to her advocacy for patients and families affected by neurofibromatosis, she has participated as a consumer representative in National Institutes of Health (NIH) programs, a member of the Integration Panel and a consumer reviewer and presenter for the Neurofibromatosis Research Program for the U.S. Army Medical Research and Materiel Command (USAMRMC), and has testified before Congressional hearings and panels.  She is a special education teacher, working with first grade students who have multiple disabilities in an inclusion classroom.  

Emil Kakkis, MD, PhD, who is board-certified in pediatrics and medical genetics, was the lead investigator in the development several years ago of the first treatment for a rare metabolic disease known as mucopolysaccharidosis (MPS) type I.  Dr. Kakkis later guided the development of new treatments for two other rare metabolic diseases (MPS VI and phenylketonuria).  For 10 years, he was Chief Medical Office of BioMarin, a biotechnology company based in California. Now Dr. Kakkis has founded the Kakkis EveryLife Foundation to accelerate the process of orphan drug development and approval.  

Marybeth Krummenacker is the immediate Past VP of Education and Awareness for the Cystinosis Research Network, and has held numerous positions over the years in that nonprofit organization.  Cystinosis is a rare disease affecting about 500 people in the U.S. and 2,000 worldwide that causes tissue and organ damage throughout the body.  Ms. Krummenacker’s daughter was diagnosed with cystinosis more than 20 years ago, and since then Ms. Krummenacker has been active on the national level in education and advocacy efforts.  She is particularly interested in activities to educate families on topics related to living with rare diseases and to increase understanding of rare diseases among medical professionals.  

Mary Sprague is the Executive Director of DebRA of America, a national nonprofit organization offering patient support, advocacy, and research for people affected by a rare genetic disease, epidermolysis bullosa (EB).  This disease causes the skin to be fragile and easily injured, leading to the formation of painful blisters.  Ms. Sprague previously held executive positions in the human resources and related industries, serving as Director of Managed Work Services of New York and Director of Flik International (Division of Compass Group NA).  

Charlene Waldman has been the Executive Director of the Paget Foundation for Paget’s Disease of Bone & Related Disorders since 1986.  This national voluntary health agency focuses on Paget’s disease, a condition that may result in bones becoming fragile and misshapen, and related bone diseases.  She has authored, co-authored, edited, and reviewed more than 100 publications for patients and health professionals on Paget’s disease of bone, primary hyperparathyroidism, fibrous dysplasia, osteopetrosis, and the complications of certain cancers of the skeleton.  Ms. Waldman has planned and organized more than 117 conferences and symposia for patients and health professionals.

Wendy White is the Founder and President of Siren Interactive Corporation, which is dedicated to helping biopharmaceutical clients use the power of the Internet to establish trust relationships with patients, caregivers, and healthcare professionals through education, support and service.  Ms. White authors a popular blog on marketing therapies for rare diseases and is a frequent public speaker on the topic.  As the mother of a child with a rare disorder, she is intensely interested in patient empowerment and the role of the Internet in providing self-education and support.  She led global Internet Initiatives and eStrategy for the Healthcare Businesswomen’s Association (HBA) and is currently President of the HBA Chicago Chapter.  She received the HBA President’s Award for 2008.  

NORD, a non-profit organization established in 1983, is dedicated to helping people with rare diseases and assisting the organizations that represent them.  Through programs of education, advocacy, research and patient assistance, NORD serves the nearly 30 million Americans who have rare diseases.  A rare disease is one that affects fewer than 200,000 Americans.  

NORD is also the national sponsor of Rare Disease Day, a global initiative launched two years ago to raise awareness of rare diseases as a public health concern.  This special day is observed on the last day of February.  To learn about plans for Rare Disease Day 2010, visit NORD's website ( www.rarediseases.org ) and sign up for the NORD e-News.  


Contact:

Mary Dunkle, Vice President of Communications

mdunkle@rarediseases.org

(203) 744-0100 (office)

(203) 842-9934 (mobile)  

NORD Partners with AAP, EGPAF, and ATS in Support of Pediatric Devices Funding

Leading Children's Health Groups Laud Senate for Funding

Pediatric Devices in FY09 Budget
Initial Two Million Dollar Investment Can Help Save Young Lives, Experts Say

March 10, 2009--Washington, D.C. – With development of pediatric medical devices lagging five to ten years behind those for adults, some of the nation’s leading children's health groups praised Congress for providing significant funding to spur the creation of devices that are safe and effective for children. The American Academy of Pediatrics (AAP), Elizabeth Glaser Pediatric AIDS Foundation (EGPAF), National Organization for Rare Disorders (NORD), and the American Thoracic Society (ATS) led the successful effort to encourage Congress to include funds for this important initiative.

The omnibus spending bill, passed by the Senate today, contains $2 million for development of pediatric devices.  It is the first-ever appropriation for demonstration grants for improving pediatric device availability, as authorized by the Food and Drug Administration Amendments Act of 2007.

In a letter last year to Senate colleagues, U.S. Senators Christopher J. Dodd (D-CT), Edward M. Kennedy (D-MA) and Orrin Hatch (R-UT) – as well as Secretary of State and former Senator Hillary Rodham Clinton – urged the Senate to secure these federal funds for the development of children's medical devices.

The funds will be used to provide grants to nonprofit pediatric medical device consortia, which will give scientists and innovators technical and financial resources to improve the number of medical devices available to children.  The Office of Orphan Products Development will be responsible for administering these grants.

"This investment can help save children’s lives," said Pamela W. Barnes, Elizabeth Glaser Pediatric AIDS Foundation president and CEO. "Children are often left behind in the development of new drugs and medical devices that are suited to their particular needs.  The funds authorized by this omnibus spending bill can spark innovations that will help them live longer and healthier lives."

"Children differ from adults in size, growth, development, and body chemistry, creating major challenges for scientists who are creating medical devices for the pediatric population,"  said Dr. David T. Tayloe, Jr., FAAP, president, American Academy of Pediatrics.  "It is vitally important that children are not just an afterthought as new devices are developed, and this funding will help make this a reality."

"Children deserve the best medical care we can provide," said Peter L. Saltonstall, president and CEO of the National Organization for Rare Disorders.  "These congressional champions did a wonderful service by pressing for this funding.  It will create greater cooperation that will allow device manufacturers to focus on children, and make it possible for more kids to benefit from life-saving innovations in medical device technology."

"Due to the reduced market size, many important and breakthrough respiratory devices – including ventilators, sleep apnea machines and masks – are not available to children," said Dr. Ann C. Halbower, director of Pediatric Sleep Research 
at the Children’s Hospital and University of Colorado School of Medicine, and a representative of the American Thoracic Society.  "This funding will help remove barriers that exist to bringing pediatric medical device products to market, which is crucial for improving care for children living with respiratory illnesses."

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The American Academy of Pediatrics (AAP) is an organization of 60,000 primary care pediatricians, pediatric medical subspecialists and pediatric surgical specialists dedicated to the health, safety and well being of infants, children, adolescents and young adults. (www.aap.org) Contact:  Erin Howard, AAP, 202-724-3303;ehoward@aap.org.


The Elizabeth Glaser Pediatric AIDS Foundation (EGPAF) is a worldwide leader in the fight against pediatric AIDS. Its innovative research programs, collaborative training initiatives, advocacy efforts, and rapidly expanding international prevention and treatment programs are bringing dramatic changes to the lives of children worldwide. (www.pedaids.org.) Contact:  Robert Yule, EGPAF, 202-448-8456;ryule@pedaids.org.

The National Organization for Rare Disorders (NORD) represents the 25 to 30 million Americans affected by rare diseases. NORD is the primary organization providing advocacy, education, research, and patient services for the rare disease community on the national level. Contact:  Mary Dunkle, NORD, 203-744-0100;mdunkle@rarediseases.org.


The American Thoracic Society (ATS) represents more than 13,000 physicians, researchers, and allied health professionals, who are actively engaged in the diagnosis, treatment and research of respiratory disease, sleep disorders, and critical care medicine. (www.thoracic.org)
Contact:  Brian Kell, ATS,
212-315-6442;bkell@thoracic.org.

NORD Gets Top Rating from Charity Navigator

DANBURY, CT (Dec. 8, 2008) The National Organization for Rare Disorders (NORD) has been awarded the highest (4-Star) rating for sound fiscal management by Charity Navigator, a leading independent evaluator of charities.

This is the sixth consecutive year that NORD has received the 4-Star rating. Only 2 percent of the charities evaluated by Charity Navigator receive the top rating six or more consecutive times.

"National Organization for Rare Disorders consistently executes its mission in a fiscally responsible way, and outperforms most other charities in America," Charity Navigator President and CEO Ken Berger noted, in notifying NORD of the rating. The exceptional rating, he said, differentiates NORD from its peers and "demonstrates to the public it is worthy of their trust."

NORD, which is celebrating its 25th anniversary this year, was established by leaders of rare disease patient organizations who helped get the Orphan Drug Act of 1983 passed by Congress and signed into law by President Ronald Reagan. NORD represents the nearly 30 million Americans who have rare diseases with programs of advocacy, education, research, and patient services.

Only about four cents of every dollar donated to NORD were spent on administrative or fund-raising costs in 2007, the most recent year for which figures are available. NORD services include programs to provide certain medications free to patients who cannot afford them, co-pay assistance programs, research grants and fellowships to encourage the study of rare diseases, and referrals to rare disease support groups for patients and families.

Charity Navigator has been profiled in Forbes, Business Week, Kiplinger's Financial Magazine and many other publications. Its ratings are based on examination of two broad areas of a charity's health: how the charity functions on a day-to-day basis and how well positioned it is to sustain its services over time.

The NORD website, which receives approximately 250,000 visits per month, is at www.rarediseases.org. To read the Charity Navigator review of NORD, click here.

(http://www.charitynavigator.org/index.cfm?bay=search.summary&orgid=6741)



Contact:: Mary Dunkle

mdunkle@rarediseases.org

(203) 744-0100

Dr. Brady to Receive
One of Nation's Top Awards

September 3, 2008 — Roscoe O. Brady, MD, a member of NORD's Medical Advisory Committee, has been named a recipient of the 2007 National Medal of Technology and Innovation award. The award honors America's leading innovators and is given to individuals, teams, and/or companies for their outstanding contributions to the nation's economic, environmental and social well-being.

For many years Dr. Brady was Chief of the Developmental and Metabolic Branch of the National Institute of Neurological Disorders and Stroke. His accomplishments include the discovery of the metabolic defects of hereditary lysosomal storage disorders, including Gaucher disease, Niemann-Pick disease, Fabry disease, and Tay-Sachs disease. With his research team, he developed diagnostic tests, carrier identification procedures, and prenatal detection methods for these diseases. His research led to the development of a highly effective replacement therapy for Gaucher disease and for Fabry disease. His team also identified the gene that is responsible for the neurogenetic disorder, Type C Niemann-Pick disease.

President Bush presented Dr. Brady and the other award recipients with their medals at a White House ceremony on September 29, 2008.

NORD is both proud and honored to have Dr. Brady serve as a member of our Medical Advisory Committee.

The National Organization
for Rare Disorders (NORD)
Names Peter L. Saltonstall
New President

Senior health care professional looks forward
to building on NORD’s 25 years of advocacy and support
for those with rare disorders

Washington, D.C. – May 5, 2008 – The National Organization for Rare Disorders (NORD) announced today that its board has unanimously selected Peter L. Saltonstall to be the organization’s new president and chief executive officer. The appointment comes as NORD celebrates its 25th anniversary and the 25th anniversary of the landmark Orphan Drug Act which provides incentives for development of therapies for people with “orphan” diseases affecting 200,000 or fewer people in this country.

Saltonstall brings NORD more than 30 years of healthcare experience in both for-profit and not-for-profit environments as well as extensive federal and commercial market knowledge. He has held senior positions within a number of major academic medical centers and organizations, including Harvard’s Brigham and Women’s Hospital, Tufts-New England Medical Center, St. Elizabeth’s Medical Center of Boston and Harvard’s Risk Management Foundation.

Devoted to improving patient safety, he was a co-founder of SafeCare Systems, LLC, which developed one of the country’s first patient safety management systems and he also played an active role on Capitol Hill in the development of the Patient Safety Act of 2005, which has dramatically improved the reporting of events that adversely affect patients.

Through his career, he has developed a broad understanding of complex healthcare issues and remains committed to improving the health care system to benefit patients.

“We have accomplished much over the past 25 years but there is still a lot of work to do,” said Abbey Meyers, the founder of NORD, who retired as its president this month. “Peter’s extensive experience working with a variety of different stakeholders on complex issues will be a great asset to NORD in advancing the cause of the millions of Americans who suffer from rare disorders.”

After being notified of his selection by the Board of Directors following a nationwide search, Saltonstall talked about his admiration for NORD’s work, his personal experience with rare disorders and his hopes for the future. “I am honored to take on this responsibility and excited about the opportunities to further strengthen the crucial support NORD provides to patients and families affected by rare disorders,” said Saltonstall.

“The Board has every confidence that Peter’s leadership skills, and his extensive health systems, development and policy experience will take NORD forward,” said Dr. Carolyn Asbury, Chair of the NORD Board of Directors. “Those skills, combined with Peter’s personal understanding of the issues faced by the 25 million people affected by rare diseases, have prepared him to build on NORD’s accomplishments and affect the challenges ahead.”

Saltonstall lives in the metropolitan Washington, D.C., area and has one son who, with his wife and two sons, lives in northern California.

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About NORD

The National Organization for Rare Disorders (NORD), a 501(c)3 organization, is a unique federation of voluntary health organizations dedicated to helping people with rare “orphan” diseases and assisting the organizations that serve them.

A rare or “orphan” disease affects fewer than 200,000 people in the United States. There are more than 6,000 rare disorders that, taken together, affect approximately 25 million Americans. For twenty-five years, NORD has served as the primary non-governmental clearinghouse for information on rare disorders. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service. (www.rarediseases.org)

NORD to Celebrate 25th Anniversary
of the Orphan Drug Act

Danbury, Connecticut—The National Organization for Rare Disorders (NORD) and rare-disease patient organizations across the United States are celebrating the 25th anniversary of the signing of the Orphan Drug Act (ODA) during 2008. This groundbreaking legislation brought real hope to the more than 25 million Americans living with one of the nearly 7,000 diseases considered to be rare.

In the decade before the Orphan Drug Act was passed by Congress and signed by President Ronald Reagan, only 10 treatments had been developed for rare diseases by the pharmaceutical industry. In the 25 years since then, more than 1,100 treatments for rare diseases have entered the research pipeline and more than 300 have been approved by the U.S. Food and Drug Administration for marketing. In addition, the Act has proven to be a potent catalyst to the growth of the pharmaceutical and biotechnology industries in the United States.

A rare or “orphan” disease is defined by the U.S. Food and Drug Administration (FDA) as a disease or condition that affects fewer than 200,000 Americans. In the past, these diseases of low prevalence were overlooked by drug and medical device developers. The Orphan Drug Act provides financial incentives that help companies recover the cost of developing a drug for small patient populations.

During 2008, NORD and its members, along with the National Institutes of Health (NIH), the U.S. Food and Drug Administration (FDA), and the pharmaceutical and biotechnology industry organizations, will be celebrating the 25th anniversary of both the Orphan Drug Act and of the founding of NORD. Special events planned for the year include the following:

• A 25th Anniversary Gala hosted by NORD at Union Station in Washington, DC, on May 20, 2008
• An international scientific conference on rare diseases hosted by the National Institutes of Health, with assistance from NORD, during the same week as the NORD Gala
• A special 25th Anniversary NORD Annual Conference in the fall of 2008

Information about these special events, and other news related to rare diseases and the development of new treatments for them, will be posted throughout the year on NORD’s web site (www.rarediseases.org).

For information, contact:

Mary Dunkle, National Organization for Rare Disorders
(203) 744-0100, mdunkle@rarediseases.org