The National Organization for Rare Disorders (NORD) is doing its best to bring attention to the 30 million Americans that have a rare disease. Even the U.S. Senate did their part by passing a resolution declaring Feb. 28, 2011 as “Rare Disease Day.” The purpose of Rare Disease Day is to harness the creative energy of the millions of people around the world with rare diseases — as well as that of all the people who care about and assist them — to help others understand certain fundamental issues that need to be addressed. Here are some of the ways you can help.
In the U.S., any disease affecting fewer than 200,000 Americans is considered rare. Only about 200 of the known 6,800 rare diseases have treatments. Many patients are treated “off-label,” with products not developed specifically for their disease. Increasingly, in today’s economic climate, insurers refuse to pay for off-label treatments.
Speaking as a person with two rare disorders/diseases, an arteriovenous malformation (AVM, a cerebral vascular abnormality) and appendiceal adeoncarcinoma (a very rare cancer), I am thrilled that attention is being brought to our little crowd. Only 500 – 1000 people/yr. are diagnosed with some form of appendix cancer.
I have been so fortunate to have found expert doctors to address both of my conditions. The AVM is an ongoing condition that requires monitoring as it cannot be surgically removed since it sits in a critical part of my brain.
Appendiceal adenocarcinoma (non-mucinous type) is a very rare aggressive cancer that needed immediate attention upon my diagnosis in February, 2010. In my hometown, no one knew exactly how to treat this rare cancer since there is no protocol or drugs specific to appendiceal adenocarcinoma. Even diagnosis is difficult and patients are too frequently misdiagnosed, wasting precious time and the possibility of recovery. Very limited research has been conducted since most of the research has to be privately funded and funds are scarce. Fortunately, I found an excellent team of doctors at M.D. Anderson Cancer Center in Houston, TX who have seen many of the few cases of appendiceal adenocarcinoma that are diagnosed each year. Dr. Paul Mansfield, Dr. Michael Overman and the rest of the MDACC team put a treatment plan in place that has steered me to the place where I am today. Disease-free. I am VERY fortunate.