According to the National Institutes of Health (NIH), there are nearly 7,000 diseases defined as rare, or affecting fewer than 200,000 Americans by U.S. definition.
Somebody you know has one of these diseases, and the patients and families coping with them need our help. They live with day-to-day challenges that are vastly underserved at this time by our medical and public health systems.
This results in shattered dreams, unnecessary expense, lost productivity, and all too often, premature death.
What are the challenges?
Even though each disease is unique, the problems associated with having a rare disease tend to be consistent. They include:
- Delayed or inaccurate diagnosis
- Difficulty finding a medical expert
- Too little research
- Few, if any, treatment options
- Insurance or other reimbursement problems
- Lack of awareness and understanding of the patient’s needs
- A sense of isolation.
In fact, much of the research on rare diseases today is being funded by patients, families, and patient organizations raising money through golf tournaments, bake sales, and other means to provide grants for researchers at universities and hospitals.
Seek Treatment
Only about 200 rare diseases currently have treatments approved by the U.S. Food and Drug Administration (FDA). That leaves many patients and their families in the position of being treated with products not specifically approved for their disease or not being treated at all.
Furthermore, more than half of the patients are children. The organization I represent—the National Organization for Rare Disorders (NORD)—receives phone calls and emails on a daily basis from parents who are coping simultaneously with the challenges of having a desperately sick child, appealing insurance denials, finding appropriate medical care, and educating their families and friends about their child’s disease. It’s a lot to deal with, and no one should have to do it alone.
Just by becoming more aware of rare diseases and the needs of the children and adults who have them, you can help. The word “rare” is misleading. These diseases touch lives all around us, and as a society we need to pay more attention. It could be your son or daughter, or your elderly parent, who is affected.
If we all focus a little more on these issues, we could improve millions of lives, reduce unnecessary healthcare spending, and put meaning in the phrase: Alone we are rare. Together we are strong.
Peter L . Saltonstall
President and CEO, National Organization for Rare Disorders (NORD)
Mothers lead the way in researching rare disorders
Few medical conditions a re as difficult to diagnose as rare disorders. Many patients wait seven to 10 years before receiving a correct diagnosis, and when the disease is finally given a name,
the person behind that diagnosis is often a mom. Why?
- First, 80 percent of all rare disorders including cystic fibrosis, childhood cancers, and numerous unnamed diseases are diagnosed during early childhood.
- Second, physicians receive little medical training in rare disorders and can spend an entire career without ever encountering one.
- Third, and most importantly, is the strength of a mother’s instinct to protect her young – she is literally fighting for her children’s lives. Empowered by the inter-net, these mothers research and network with unmatched skill.
“Having support and encouragement right at their fingertips can transform a family’s solo ordeal into a shared journey; stripping away feelings of isolation and bolstering their faith and determination.” A simple click of a mouse can make a world of difference.
Wendy White
Founder and President, Siren Interactive
