Rare Disease Day February 29
(ST. LOUIS) - Shriners Hospitals for Children® will join the National Organization for Rare Disorders (NORD) and others around the world in observing Rare Disease Day on February 29. The purpose is to focus attention on the needs of patients and families affected by rare diseases.
Each year, a global planning team selects a theme for Rare Disease Day. The theme for 2012 is “Rare but strong together.”
“This is a global observance,” said Michael P. Whyte, M.D., medical and scientific director of the Center for Metabolic Bone Disease and Molecular Research at Shriners Hospitals for Children. “But it’s of great importance to us here in St. Louis and our hospital, because we specialize in some of the world’s most rare bone diseases.”
Shriners Hospitals for Children — St. Louis and its Center for Metabolic Bone Disease and Molecular Research (Research Center) are dedicated to the study of pediatric metabolic bone disease and some skeletal dysplasias. The center provides a variety of expertise for children with metabolic bone disorders caused by nutritional, chemical or glandular problems which are often genetically transmitted.
Research Center at Shriners Hospitals for Children has been diagnosing, treating and researching more than 100 such rare conditions, including new diseases, since it was established in 1982. This group of experts also provides an international resource for physicians with difficult diagnostic and therapeutic problems.
During the week of Rare Disease Day, the Research Center will be hosting four children with idiopathic multicentric osteolysis (IMO), a condition so rare, fewer than 100 people in the world have been diagnosed with it.
All four children are between the ages of 7 and 9, and have the condition that is often described as “disappearing bones.” Often initially misdiagnosed as juvenile rheumatoid arthritis, IMO causes the bones to disappear mostly in children’s hands, feet, knees and elbows. the condition is also marked by kidney problems.
Because the condition is so incredibly rare, the Research Center staff likes to schedule appointments for these four patients at the same time.
“It’s like camp for these kids,” said Angie Nenninger, R.N. “When they’re here they get to play all day with kids who are like them. And it helps us because we get to see several different kids at once with the same condition.”
“And their families get the comfort of knowing the latest research on this disease,” Nenninger said. “Because this information isn’t easily accessible. It’s not something you can look up on the Internet.”
Patients come to Shriners Hospitals for Children — St. Louis from around the world to seek the best care and latest research in these rare diseases from the specialists at the Research Center.
“These aren’t 15-20 minute office visits. When patients and their families come here, we may devote a whole day to exams, histories, and educating them about their diseases and the approaches we can take to care for them,” said Amy Reeves, clinical research coordinator. “Most families come in frustrated at how little people can tell them about their disease because it is so rare. They leave thankful that we have such a whole person care approach. The knowledge is empowering.”
Reeves said that bringing attention to rare diseases is important, because the challenges to those who have them are tremendous, and include:
- Difficulty getting a timely, accurate diagnosis
- Too little research
- Too few treatments
- Reimbursement or other issues affecting access to treatments
- A sense of isolation
- Difficulty finding medical experts
In the U.S., any disease affecting fewer than 200,000 Americans is considered rare. According to the National Institutes of Health (NIH), there are nearly 7,000 such diseases affecting nearly 30 million Americans. Studies have shown that it often takes five years or longer to get an accurate diagnosis of a rare disease. In addition, only about 200 of the diseases classified as rare have approved treatments.
“Since many of these diseases are genetic, more than half of the people who have rare diseases are children,” Dr. Whyte said. “The problems encountered by families are enormous. It’s important for these families to know they are not alone.”
More than 500 patient organizations, government entities, research institutions, and companies developing treatments have signed up as Rare Disease Day Partners on the national website hosted by NORD (www.rarediseaseday.us). Shriners Hospitals for Children is one of those partners.
About Shriners Hospitals for Children
Shriners Hospitals for Children is a health care system of 22 hospitals dedicated to improving the lives of children by providing pediatric specialty care, innovative research, and outstanding teaching programs for medical professionals. Children up to age 18 with orthopaedic conditions, burns, spinal cord injuries, and cleft lip and palate are eligible for care and receive all services in a family-centered environment, regardless of the ability to pay.
Shriners Hospitals for Children is a 501(c)(3) nonprofit organization and relies on the generosity of donors. All donations are tax deductible to the fullest extent permitted by law.
About National Organization for Rare Disorders
NORD was established in 1983. It provides advocacy, education, research, and patient services on behalf of rare disease patients, families, and patient organizations.