Friday, February 25, 2011

What Is It, Anyway? ~ Rare Disease Day ~ 2-28-2011

Millions Around World To Observe Rare Disease Day

National Organization for Rare Disorders (NORD) and others around the world in observing World Rare Disease Day on February 28, 2011.  On this day, millions of patients and their families will share their stories to focus a spotlight on rare diseases as an important global public health concern.

“There are nearly 30 million Americans—and millions more around the world—affected by rare diseases,” said Peter L. Saltonstall, president and CEO of NORD.  “Everyone knows someone with a rare disease.  But, while many of these diseases are serious and lifelong, most have no treatment and many are not even being studied by researchers.  This leaves patients and families without hope for a better future.”

A rare disease is one that affects fewer than 200,000 Americans.  There are nearly 7,000 such diseases affecting nearly 30 million Americans.

World Rare Disease Day was launched in Europe four years ago and last year was observed in 46 nations.  It is always observed on the last day of February.  On that day, patients and patient organizations will post stories, videos and blogs online and host events to raise awareness of these diseases, which are often called “orphans”.

In the U.S., the coalition supporting Rare Disease Day includes patient organizations and advocacy groups, medial professionals and associations, government agencies, researchers, and companies developing treatments for rare diseases.

Rare Disease Day 2011 activities in the U.S. will include creating an online library of two-minute videos about specific rare diseases and how they affect patients’ daily lives.  Also, patients across the nation will help NORD create a database of physician experts.  Patients will share their personal stories through a survey hosted by NORD and the Pew Research Center, and there will be a drive to enlist support for a new Rare and Neglected Diseases Congressional Caucus.

 “More than half of the people who have rare diseases are children,” Saltonstall said.  “Challenges faced by patients and their families include delayed diagnosis, few treatment options, and difficulty finding medical experts.  Many rare diseases have no approved treatment.  Insurance may not cover treatments that aren’t approved.  Also, treatments for rare diseases tend to be more expensive than those for common diseases.”

In 1983, the Orphan Drug Act was passed by Congress to create financial incentives for companies to develop treatments for rare diseases.  Since then, more than 360 orphan drugs and biologics have been approved by the Food and Drug Administration (FDA).  It is estimated that from 11 to 14 million Americans benefit from these products, but that still leaves more than 15 million Americans with diseases for which there is no approved treatment.

For more information about Rare Disease Day activities in the U.S., go to  For information about global activities, go to
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What is a rare disease?

In the United States, a disease is considered rare if it is believed to affect fewer than 200,000 Americans.  Some other countries and the European Union have similar but slightly different definitions. 

How many people have rare diseases?

According to the National Institutes of Health (NIH), there are almost 7,000 rare diseases affecting between 25 and 30 million Americans.

What are some examples of rare diseases?

Rare diseases are present across the spectrum of medical conditions.  All but a few types of cancer are rare.  There are also rare neurological and neuromuscular diseases, metabolic diseases, chromosomal disorders, skin diseases, bone and skeletal disorders, and rare diseases affecting the heart, blood, lungs, kidneys, and other body organs and systems.  Many rare diseases are named for the physicians who first identified them.  A few are named for patients or even the hospitals where they were first identified.  NORD has a database of more than 1,200 reports on specific rare diseases in patient-friendly language on its website (  The most complete listing of rare diseases in the U.S. is on the website of the National Institutes of Health (NIH) Office of Rare Diseases Research (ORDR) at

Who is affected by rare diseases? 

Nearly one in 10 Americans have rare diseases.  Many—but not all—of these diseases are genetic.  Some are apparent at birth.  Some do not appear until much later in life.  More than half of the people known to be affected by rare diseases at this time are children.  One of NORD’s continuing themes is that everyone knows someone affected by a rare disease.  And, even though each disease is rare, together they significantly impact the American public as a whole.  For that reason, rare diseases are an important public health concern.

How many rare diseases have treatments?

Many rare diseases still have no approved treatment.  And many are not even being studied by medical researchers at this time.  Often, people with rare diseases are treated “off-label” (with treatments that are not approved by FDA for their specific disease).  Increasingly, patients are experiencing reimbursement problems with insurance (including Medicare and Medicaid) for off-label treatments.

What are some of the problems experienced by people who have rare diseases?

  • Difficulty in obtaining an accurate diagnosis
  • Limited treatment options
  • Little or no research being done on the disease
  • Difficulty finding physicians or treatment centers with experience in treating a particular rare disease
  • Treatments that are generally more expensive than those for common diseases
  • Reimbursement issues related to private insurance, Medicare, and Medicaid
  • Difficulty accessing medical, social, or financial services or assistance because those making the decisions are not familiar with the disease
  • Feelings of isolation and of having been abandoned or “orphaned” by our healthcare system

The following agencies of the federal government are Rare Disease Day Partners and year-round resources for the rare disease community.
National Institutes of Health (NIH) Office of Rare Diseases Research (ORDR)
The National Institutes of Health (NIH) is the primary federal agency for conducting and supporting medical research in the United States.  The Office of Rare Diseases Research (ORDR) serves as a resource within NIH to promote and help coordinate research and information related to rare diseases.  ORDR may be found online at:
ORDR also has a Genetic and Rare Diseases Information Center known as GARD.  There is information about GARD on the ORDR website.  In addition, individuals may contact GARD directly at:
By Telephone
Monday - Friday, Eastern Time
(888) 205-2311 (Phone)
(888) 205-3223 (TTY)
(301) 251-4925 (International Telephone Access Number)
By U.S. Mail or Fax
(Answered within 5-10 working days)
The Genetic and Rare Diseases Information Center
P.O. Box 8126
Gaithersburg, MD 20898-8126

Fax: (301) 251-4911

Food and Drug Administration (FDA) Office of Orphan Products Development (OOPD)
The U.S. Food and Drug Administration (FDA) is responsible for protecting the public health by ensuring the safety, efficacy, and security of human and veterinary drugs, biological products, medical devices, our nation's food supply, cosmetics, and products that emit radiation.  Within FDA, the office dedicated to promoting the development of products for the diagnosis or treatment of rare diseases is the Office of Orphan Products Development (OOPD).  The OOPD interacts with the medical and research communities, academia, pharmaceutical and biotechnology industries, and patient organizations.  It administers the major provisions of the Orphan Drug Act.  Through its Orphan Products Grants Program, OOPD provides funding for clinical research on rare diseases.  The OOPD website is at:


The Social Security Administration (SSA), under the guidance of Commissioner Michael Astrue has been working with NORD and others in the rare disease patient community to reduce unnecessary delays that people with rare diseases often encounter when they apply for financial assistance through SSA.  Through a program called “Compassionate Allowances”, SSA is identifying extremely disabling rare diseases to expedite the application for assistance from patients with those diagnoses. 

Read about the Compassionate Allowances Program and view lists of diseases identified for that program to date at the following website:


The Orphan Drug Act was approved by the two houses of Congress in 1982 and signed into law by President Ronald Reagan in 1983.  Although few people realized its significance at the time, it has become one of the most important and successful pieces of healthcare legislation today.

What is an Orphan Drug?
This term refers to a drug or biologic (such as a vaccine or blood product) that treats a rare disease or condition.  A disease is considered rare if fewer than 200,000 people in the United States have it.

Orphan drugs may be new products or they may be drugs already approved for other diseases that are later found to treat a rare disease.  A drug or biologic becomes an orphan drug when the sponsor applies for an orphan drug designation, and the drug is then designated by the Food and Drug Administration (FDA).

Like every other drug, orphan drugs must go through the normal FDA approval process and be evaluated for safety and effectiveness for the intended use.  To date, more than 2,250 drugs and biologics have been designated as orphan drugs since 1983.  More than 360 have been approved for the U.S. market by FDA.

How the Orphan Drug Act Has Helped
Discovering and developing a new drug can be very expensive.  Since rare diseases affect relatively small numbers of people, companies would not be able to recover this expense without the incentives provided by the Orphan Drug Act.  Those incentives are:

  • A seven-year period of marketing exclusivity after an orphan drug reaches the American market
  • Tax credits for the costs of clinical research
  • Opportunities to apply for grant funding for certain clinical testing expenses
  • Assistance in clinical research study design
  • Waiver of Prescription Drug User Fee Act (PDUFA) filing fees (fees that companies normally pay to FDA)

The Orphan Drug Act was a Bipartisan Effort
The Orphan Drug Act was introduced originally by Senator Nancy Kassebaum (R-KS) and Representative Henry Waxman (D-CA).  It was cosponsored by several current members of Congress, among them Senators Orrin Hatch (R-UT).  The late Senator Edward Kennedy (D-MA) also was a sponsor. 

What Will You Do for Rare Disease Day 2011?

Rare Disease Day 2011 will be here soon, and the groundswell of activity has been truly phenomenal!  Here are a few highlights:
  • The U.S. Senate has approved with unanimous consent a resolution designating Feb. 28, 2011, Rare Disease Day throughout the U.S.  This resolution was sponsored by Senator Sherrod Brown (D-OH) and co-sponsored by Senator John Barrasso (R-WY).  If you live in Ohio or Wyoming, be sure to thank your senators for this.
  • We have an unprecedented number of state proclamations this year.  NORD extends a huge thank-you to all who helped with this, and a special shout-out to Kelli Foster and others in the group for their amazing efforts!
  • There are more than 500 Rare Disease Day Partners for 2011!  This illustrates the strong collaboration among patients and families and those who are dedicated to assisting them.  See the list of Partners on the Rare Disease Day US website.
  • NIH Director Francis Collins will speak at the NIH Rare Disease Day event on Monday.  Speakers representing the patient community will be NORD President and CEO Peter L. Saltonstall and Genetic Alliance President and CEO Sharon Terry.
  • Events submitted through the Rare Disease Day US website are listed state-by-state.  See what's happening in your state.
  • FDA is hosting a "Do A Designation" workshop at the Keck Graduate Institute in California on Feb. 28 and March 1.
  • NORD will be continuing its "Video Library" project to create 1- or 2-minute videos describing as many rare diseases as possible.  For each video posted, Alnylam Pharmaceuticals will donate $10 to NORD to support education on all rare diseases.  In addition, Donate Games has donated an XBOX 360 Elite Bundle and other prizes to be raffled off to a few lucky individuals who submit videos.
  • Still not sure what to do on Rare Disease Day?  Tell at least three other people about the rare disease of interest to you and how it impacts daily life.  If you participate in Facebook, consider changing your profile photo to the Rare Disease Day logo for that day.
NORD is grateful to everyone who, in any way, has provided support for Rare Disease Day 2011.  This has been the best year ever, and it's all because so many people find creative ways to participate, no matter where they are or how few resources may be available to them.
For the complete overview of Rare Disease Day events in the U.S., go to the site hosted by NORD at

And don't forget to visit the global Rare Disease Day site hosted by EURORDIS at

We'll keep the US website active after Rare Disease Day. 

Next year will be a leap year, and that means that Rare Disease Day 2012 will fall on February 29th, the ultimate rare day.  Be sure to check the website periodically through the year to see about plans for that special Rare Disease Day!

Clink on the link below to show your support for the 30 million Americans who are affected by rare diseases. Lundbeck Inc. will make a $1.00 donation to support rare disease research for every person who clicks on the link! The money raised will be contributed to a general research fund managed by the National Organization for Rare Disorders (NORD).

And to The Post-Tribune & The Times Newspapers for printing my story!!!

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