During FBC (f-bomb breast cancer for new readers) awareness month in October, I received countless emails from readers asking, “Why does breast cancer get so much attention?” and “What about my disease?” Excellent questions! I promised that I would write about Orphan Diseases and here it finally is (better late than never…Silver Lining).
Please allow me to begin by saying that, for the record, I don’t like the phrase “Orphan Diseases.” Not one bit. However, I do understand the reason for the name and that many people who have rare diseases feel as if they are indeed abandoned and alone. Though this is not the source of the name. Rather, due to the high cost of research and the lack of profit potential for pharmaceutical companies, the sad reality is that these diseases are often abandoned, or “orphaned,” thus the name: orphan diseases.
Secondly, I have a very special place in my heart for people with rare diseases. As a pediatric hospice nurse, my patients had more rare diseases than they had common ones. I was forever researching rare diseases and as a result, my NORD (National Organization for Rare Disorders) textbook is dog-eared, highlighted and underlined like nobody’s business.
New rare diseases are discovered every year. Any disease affecting fewer than 200,000 (or about 1 in 1,500) is considered rare (by the 2002 Rare Disease Act). Currently, nearly 25 million Americans suffer from a rare disease. Of the nearly 7,000 rare medical conditions, less than 300 have therapies available to treat them. And here’s another doozie: about 30 percent of children with a rare disease will die before reaching their fifth birthday (these are the children for whom I cared).
When confronted with a rare disease, there are many challenges, including obtaining a correct diagnosis, identifying an appropriate course of treatment, and gaining affordable access to necessary care.
Another challenge is determining the cause of a rare disorder. Approximately 80% of orphan diseases have genetic origins. Other rare diseases are the result of infections or allergies sometimes due to environmental or toxic conditions. Many infectious diseases are common in a given geographic area but rare everywhere else. Other diseases, such as many rare forms of cancer, have no apparent pattern of distribution but are simply rare. All of these challenges can make a patient (and his or her family) feel isolated, fearful and confused. These are all grounds for a few f-bombs if you ask me.
There are two big picture Silver Linings:
- In 1983, Congress passed the Orphan Drug Act (ODA) which created financial incentives for drug and biologics manufacturers, including tax credits for costs of clinical research, government grant funding, and assistance for clinical research.
- Around the same time, the Food and Drug Administration (FDA) and the National Institute of Health (NIH) encouraged “rare disease” product development and clinical research.
A more practical Silver Lining is that NORD assists uninsured or under-insured “orphan patients” with the financial burdens associated with a rare disease and provides information about support groups (both in person and virtual). Speaking of making connections, in my clinical work, I found that the people coping & living with rare diseases tend to be far more likely to have developed herculean internet skills spanning the gamut from research to networking to advocacy.
Yes, we have made considerable progress in our scientific knowledge of orphan diseases over the last quarter of a century, but we have only scratched the surface and have a long, long way to go to meet the medical and psychological needs of patients and their families living with rare disease.
If you’d like to learn more, here are some great websites:
- National Organization for Rare Disorders: www.rarediseases.org
- Food and Drug Administration Office of Orphan Products Development: http://www.fda.gov/ForIndustry/DevelopingProductsforRareDiseasesConditions/default.htm
- National Institute of Health Office of Rare Diseases: http://rarediseases.info.nih.gov/