When cancer and Crohn's disease invaded my life, simultaneously
no less, the silver lining in the very dark cloud was that they
were both fairly common, well-understood diseases. I could spend
hundreds of hours on the Internet and in bookstores researching
treatments, and there were local organizations and programs in
place to provide support.
But what about the nearly 30 million Americans and countless
others around the world who are diagnosed with rare diseases? What
must it feel like to be told you have something that many doctors
have never heard of and for which there is no known treatment?
Last week we observed Rare Disease Day. This is the first time
in this country this awareness campaign is being held, and it is
the hope that this global event will continue on the last day of
February each year.
According to Peter Saltonstall, president of the National
Organization for Rare
Diseases, "The day is intended to bring together the patients
and families with rare diseases to discuss the need for greater
awareness, more research and better access to diagnosis and
treatment".
A rare disease is defined as one that affects fewer than 200,000
Americans. The
National Institutes of Health lists nearly 7,000 such diseases.
Besides the fear one feels when hearing they may have something
that is often barely pronounceable, patients often face long delays
getting an accurate diagnosis, have difficulty finding doctors who
can treat them and are often not afforded many treatment options.
In some cases, alternative treatments might be available that
are also quite costly. Without the approval of the U.S. Food and
Drug Administration, there is often no coverage from health
insurers. Even approved treatments for rare diseases tend to be
more expensive than those for common diseases.
Before the Orphan Drug Act was signed into law by President
Reagan on Jan. 4,
1983, only 10 treatments had been developed for rare diseases by
the pharmaceutical industry.
This legislation provided special tax breaks and incentives to
encourage the pharmaceuticals to "adopt" an orphan (rare) disease
and invest in research and development of drugs to treat it.
Without such considerations, it would be economically unfeasible
for them to produce and market drugs that would only benefit small
patient populations.
Since the act was passed, approximately 330 orphan drugs and
biologics have been approved by the FDA. The patient leaders who
worked to get the Orphan Drug Act passed went on to form NORD 25
years ago.
Organize your thoughts, empower yourself with knowledge and help
spread the awareness about rare diseases:
If you or someone you know is affected, go to the National
Organization for Rare Diseases's Web site at
http://www.rarediseaseday.org/.
Network with others who may have the same disorder and exchange
information and support via NORD's confidential networking program.
NORD offers assistance for those who are uninsured or
under-insured and are having difficulty getting life-saving or
life-sustaining medications.
Encourage your primary physicians to buy the NORD resource
guide. It lists more than 1,300 organizations for people with rare
disorders and is an excellent source for patients and families
seeking information and resources. The cost is $50 plus $7 for
shipping and handling. For more information, go to
http://www.rarediseases.org/programs/nordresourceguide.
The National Patient Travel Center ensures that financially
needy patients have access to distant specialized medical treatment
and will provide long distance medical air transportation. Call
(800) 296-1217 or go to
http://www.patienttravel.org/ for more information.
--
(This column should not be substituted for medical advice. It is
recommended that you talk with your doctor when making medical
decisions. Lynda G. Shrager is an occupational therapist, author
and professional health organizing consultant from Slingerlands,
N.Y.. E-mail: lshrager@otherwisehealthy.com.)
c.2009 Albany Times Union