February 28, 2009 is Rare Disease Day
in the United States and Europe
This February 28, 2009, thousands of patients, their families, medical professionals, researchers, educators and others will join in the observance of the first Rare Disease Day in the United States.
Governors in Alabama, Connecticut, Florida, Georgia, Iowa, Kentucky, Louisiana, Maine, Maryland, Massachusetts, Michigan, Missouri, Montana, Nebraska, New Hampshire, New York, Oklahoma, Oregon, Pennsylvania, South Carolina,South Dakota, Tennessee, Texas, Virginia and West Virginia issued Proclamations that February 28, 2009 is Rare Disease Day. This day is an opportunity to increase awareness about rare diseases and the difficulties encountered by those who are diagnosed with a rare disease.
Rare Disease Day was observed for the first time February 29, 2008 in Europe and was a great success. This year, more than 100 rare disease organizations in the United States are partnering with the National Organization of Rare Disorders (NORD) and with the European Organization for Rare Diseases (EUORDIS) to improve awareness of rare diseases throughout the U.S. and Europe.
In the U.S., a rare disease is defined as one that affects fewer than 200,000 Americans. Yet since there are nearly 7,000 such diseases, approximately 30 million Americans suffer from a rare disease, according to the National Institutes of Health (NIH).
People with rare diseases experience certain challenges as a result of the fact that their diseases are so rare. These include:
· Difficulty in obtaining a timely, accurate diagnosis
· Limited treatment options
· Difficulty in finding physicians or treatment centers with knowledge and expertise
· Treatments that are often more expensive than those for common diseases
· Reimbursement issues related to private insurance, Medicare and Medicaid
· A sense of isolation and hopelessness
Rare diseases can affect the entire family of an individual patient. Caregivers often endure ongoing stress and isolation managing the medical and financial issues that arise.
One example of a rare disease that most physicians and the public have never heard of is Tarlov cyst disease. Tarlov cysts (TC) are also known as perineural/perineurial, or sacral nerve root cysts. They are spinal fluid filled cysts that form off the nerve root sheaths and can cause intense nerve pain, since the cyst walls contain spinal cord nerves. They are located most prevalently in the sacral section of the spine between the lumbar area and tailbone (coccyx). The most common symptoms that patients with Tarlov cysts experience are pain in the lower back and in the buttocks, legs and feet, weakness and/or cramping in legs and feet, abnormal sensations in the legs and feet (paresthesias), pain sitting or standing for even short periods of time, bowel and/or bladder dysfunction, headaches (due to the changes in the spinal fluid pressure), sciatica, and vaginal, scrotal, rectal, pelvic and abdominal pain. When a patient describes this group of symptoms, a lumbar-sacral scan should be ordered to rule out the presence of Tarlov cysts.
Tarlov cyst disease is often misdiagnosed/undiagnosed by the medical community, due to lack of education or understanding about the pathology of symptomatic Tarlov cysts, failure to order MRI of the sacrum, and because of the many other body systems that can be affected by the spinal cord nerves. Only a handful of physicians in the world are knowledgeable about and willing to treat Tarlov cysts. To learn more about Tarlov cyst disease, please visit the Tarlov Cyst Disease Foundation’s website at www.tarlovcystfoundation.org. The Foundation provided funding for Tarlov cyst research this year, and Anne Louise Oaklander, M.D., Ph.D., at Harvard Medical School and Massachusetts General Hospital in Boston, has received the initial research grant.
Other important things to remember about rare diseases are:
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Many rare diseases are very serious, life altering or life-threatening.
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Most rare diseases have no effective treatment or cure.
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Since many rare diseases are genetic, about half of the people affected by rare diseases in the U.S. are children.
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Research on rare diseases often adds significantly to the general understanding of more common diseases.
Research Announcement
November 2008
The National Organization for Rare Disorders’ Medical Advisory Committee has announced that Anne Louise Oaklander, M.D., Ph.D will receive the Tarlov Cyst Disease Foundation’s grant for Tarlov cyst research.
Dr. Oaklander is an attending physician in Neurology and Neuropathology at the Massachusetts General Hospital and Associate Professor of Neurology at Harvard Medical School. She directs the Nerve Injury Unit, which she founded in 2002 at Massachusetts General Hospital, following her fellowships at Johns Hopkins. Dr. Oaklander works in the emerging field of nerve injury and neuropathic pain and is internationally recognized for her research, as profiled in Science and New Yorker magazines as well as in print and broadcast news media.
We are excited about Dr. Oaklander's research with the Foundation's grant and hope that her project will put us one step closer to improved diagnosis and treatment outcomes for Tarlov Cyst Disease. Dr. Oaklander’s publications should help educate the medical community and public alike about the diagnosis and treatment of Tarlov cysts.
Tarlov Cyst Disease Foundation Board of Directors
The Researcher Selection Process:
Requests for research proposals were sent out in March 2008.
Initial Research Proposals were received in May 2008.
NORD's Medical Advisory Committee extended invitations for final proposals from the research grant applicants July 2008.
Full Research proposals were received September 8, 2008.
Medical Advisory Committee selected the researcher/grantee November 2008!
The Tarlov Cyst Disease Foundation has provided a grant for restricted Tarlov cyst research. The term “restricted,” means that the grant is exclusively for researching Tarlov cysts. The Tarlov Cyst Disease Foundation is working with the National Organization for Rare Disorders (NORD) to determine the researcher, provide the grant and oversee the research process.
Providing this restricted Tarlov cyst research grant was a long-term dream that the Tarlov Cyst Disease Foundation members and donors helped to make possible. This is a significant initial step in the process to have a researcher focus on Tarlov cysts. The Foundation will continue seeking grants and more funding for research and education in the future; this is just the beginning!
If you wish to be part of the efforts provided by the Foundation, on behalf of all those around the world who live with the pain of symptomatic Tarlov cysts, contact the Foundation by writing to contactus@tarlovcystfoundation.org .You may also become a Foundation member or donor by visiting the “Join Us” page on this website.
We invite all Tarlov cyst patients to participate in the Patient Survey on the “Research & Survey” page of this website. These surveys will be provided to the grantee/researcher selected, so you will be part of the groundbreaking research that will provide solutions for the future!
