February 28, 2009 was Rare Disease Day in the United States and Europe
Saturday, February 28th, 2009
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, verdana, 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 https://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:
- Many rare diseases are very serious, life altering or life-threatening.
- Most rare diseases have no effective treatment or cure.
- Since many rare diseases are genetic, about half of the people affected by rare diseases in the U.S. are children.
- Research on rare diseases often adds significantly to the general understanding of more common diseases.