News Briefs

New Patient Communities Focus on Specific Rare Diseases

Dedicated rare disease patient communities provide patients and families with an opportunity to connect with others who understand the struggles and complications of that particular disease. With patient populations reaching a maximum of 200,000 people, and typically far fewer, patients suffering from rare diseases often feel isolated and terribly alone. Studies have shown that, for about one-third of the people with rare diseases, it takes five years or longer to get an accurate diagnosis. Even after the disease has been properly identified, patients may struggle to find information and proper care. It is often difficult to find a knowledgeable specialist or enough accurate information to become an empowered self-advocate to explore potential treatment plans or options directly with a physician.

In the age of the Internet, this has sent many people online to help meet some of these needs. People with all sorts of diseases and conditions, not just orphan status diseases, are turning to search engines, websites, blogs, social networking sites and support groups to find information related to their health. People want to connect with individuals who understand what they are going through. They want an outlet to share their experience, learn about similar stories, and potentially find additional resources that could help them.

This has lead to a large influx of patient communities dedicated to these very purposes. Some of these are broad non-specific groups that focus on common issues of coping with a rare disease, such as Inspire whose mission is, "We believe no one should have to go it alone, we all need a safe place to talk, and we can help one another." Patients and families tend to exhibit a strong need for interaction and information and these sites attempt to meet those goals. Additionally, these sites are inclusive allowing anyone without a dedicated disease specific space to participate. The benefit of these communities is that regardless of a patient's health, if he or she is able to access the Internet, the technology allows for real time information sharing regardless of physical location.

A new crop of patient communities is emerging that is tailored to focus on a specific patient population. Some of these communities are company-sponsored initiatives such as BraveCommunity.com, which is developed and maintained by Shire Human Genetic Therapies (HGT), a business unit of Shire plc. The site focuses on six rare diseases and serves as an online resource for patients, families and health care professionals seeking more information about certain rare diseases and living with rare diseases. The diseases are Fabry disease, Gaucher disease, hereditary angioedema, Hunter syndrome, metachromatic leukodystrophy, and Sanfilippo type A. It is clear that patients see a valuable need for these sites as the website has enjoyed 3,567 total visits and 3,423 unique visits in just three months time.

NORD and our European counterpart, EURORDIS, have launched a site that will strive to create global online communities for patients and families coping with rare diseases. Rarediseasecommunities.org helps patients access peer-reviewed information about their diseases and connect with other patients. It also provides tools for living with specific rare diseases. Currently one community, for CAPS, has been launched, but several others are in the works.

These sites create a dedicated safe space for individual patients or families struggling with a rare disease. The hope is that these initiatives can help to eliminate some of the isolation that is so common in this patient population. The ability for community-building and information-sharing in this type of forum creates a tremendous amount of potential for interesting dialogue. In many cases, simply being able to ask a question of someone who has experienced a similar situation provides comfort and insight that is not always possible in a larger, less focused space. At a time when Internet use is becoming such a large part of human interaction and daily routine, it is likely that the demand and success of these types of sites will only continue to grow.

Pre-Approval Drug Access

BiPar Sciences and sanofi-aventis recently obtained U.S. Food and Drug Administration (FDA) approval for an Expanded Access Protocol (EAP) for iniparib in metastatic triple negative breast cancer (mTNBC). NORD is assisting with this program. More.

National Organization for Rare Disorders Honored for Effective Use of Donated Funds

Danbury, CT-----For the seventh consecutive year, the National Organization for Rare Disorders (NORD) has earned the top (4-Star) rating from Charity Navigator, a leading independent evaluator of charities.  The 4-Star or "Exceptional" rating honors charities that consistently exceed standards and outperform most others in their category.

"We are gratified by this rating because maintaining our focus on patients and families is extremely important to us," said NORD President and CEO Peter L. Saltonstall.  "We want donors to know that contributions to NORD will be spent in the best possible way to provide needed services for a medically underserved population - the nearly 30 million Americans with rare diseases."

According to the Charity Navigator evaluation, almost 95 cents of every dollar donated to NORD last year went to programs and services for patients and families.  Only 3.7 percent was spent on administrative costs and just 1.2 percent on fund-raising.

Since 1983, NORD has served as the primary representative of the one in 10 Americans with rare diseases. It provides advocacy, information and referrals, networking, mentoring and other services to help patients, their families, and rare disease patient organizations.

NORD also provides research grants to encourage the study of rare diseases and administers patient assistance programs to help patients obtain certain medications they could not otherwise afford.  Other services include encouraging and facilitating the development of new treatments for rare diseases.

A disease is considered rare in the U.S. if it affects fewer than 200,000 people. There are nearly 7,000 such diseases affecting nearly 30 million Americans.

In describing its evaluation process, Charity Navigator notes that it "works to guide intelligent giving. Our goal is to help people give to charity with confidence. At the same time, we hope to help charities by shining a light on truly effective organizations.  Givers can be confident that in supporting those organizations rated highly by Charity Navigator, they will be supporting organizations that are fiscally responsible and financially healthy."

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The Progeria Research Foundation (PRF)
The PRF will hold its 6th International Workshop on Progeria, "From Bench to Bedside in a Decade" April 11-13, 2010 in Boston, MA. The meeting will promote scientific discussions in formal and informal settings with a focus on bringing basic and clinical science together to promote collaboration and progress in progeria research. NIH Director Francis S. Collins, MD, PhD will be the Plenary Speaker. Other highlights include a progeria family panel and presentation of the first-ever progeria clinical treatment trial results.

Registration and information.

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).