Abstract
Fear strikes at the heart when a diagnosis of cancer is made. Life as the person knows it is forever changed. But then consider the added impact of learning for you or a loved one who has a rare form of cancer. Perhaps there are only 100 reported cases in the literature – or fewer – and few researchers, if any, are studying that type of tumor. This is where our organization, NORD (www.rarediseases.org) comes into the picture. When a diagnosis of a rare disorder is made, or when a diagnosis remains elusive, it is to NORD that many people turn.
NORD was established in 1983 after the signing into law of the Orphan Drug Act by President Ronald Reagan. This law was the result of the valiant lobbying efforts by a small group of determined parents and rare disease group leaders. Abbey Meyers, one of those parents, is the founder of NORD and served as its president for 25 years. Until her retirement in 2008, Ms Meyers was considered the primary consumer advocate for people with rare disorders. She spearheaded an organization that has become a true beacon of hope, providing a way out of the dark and isolated world of rare diseases. Abbey Meyers had extraordinary practical and visionary insight. She understood from the start that if research were to be undertaken for disorders that affect relatively small populations, it would need to start at the grass roots level. Thus, shortly after NORD became a 501(c)3 non-profit organization, a medical advisory committee (MAC) was appointed and a clinical research seed-grant program established.
NORD's research grant program attracts outstanding researchers from within the United States and internationally. Our RFPs are determined by private donations from individuals and rare disease patient organizations. The steadfast philosophy behind our research grant program is that the money is to be used for clinical research that could not otherwise be undertaken because of the lack of funding for rare disease research. The minimum amount awarded for a RFP is $30,000, but we have received much higher funding amounts. We are continually amazed at the funds that dedicated individuals and groups are able to raise for rare disease research. NORD has received funding for multiple grants in the amount of $50,000 each.
Our MAC, which uses a formal method similar to that used by NIH for scoring each application, determines the researchers who are awarded these grants. Examples of the rare cancers for which NORD has been able to administer clinical seed grants include adenoid cystic carcinoma, multiple myleoma, hepatocellular carcinoma, pheochromcytoma, and monoclonal gammopathies.
It is not an exaggeration to state that people who have been diagnosed with a rare form of cancer contact us every week. They are usually overwhelmed, confused, and feeling desperate. They may be from rural areas where treatments for rare diseases are difficult if not impossible to access, or just as likely may reside in or near major metropolitan areas. They want to know where the most current clinical trials are being conducted, who the experts are, and how to contact them.
These patients or family members are often financially devastated. We have literally received phone calls from people who are supposed to start radiation therapy the next day, but have just found out that their insurance will not pay for it. We recently received a phone call from a young man in Texas who had just started his own business and had purchased private medical insurance. Within a month he was diagnosed with testicular cancer, and had undergone an orchiectomy. He was to start radiation therapy (RT) within a specific time frame and was waiting for his insurance to approve the series of treatments. This individual contacted NORD because he was supposed to receive his first RT treatment the following day, but his insurance company had just advised him that they would not cover the treatments. The reason they gave him for denying coverage was that their policyholders had to have been in their program for a minimum of six months before “reproductive treatments” would be covered. He did not have the finances to pay for even his first radiation treatment.
We understood immediately that whoever had denied his claim at that insurance company obviously misunderstood the need for radiation treatments. While the treatments involved a reproductive organ, they clearly were not for the sake of reproduction. We carefully provided him with the proper wording to explain his situation, and strongly encouraged him to speak with a senior level insurance representative. We also referred him to some excellent patient organizations that are focused on testicular cancer. Happily, by the end of that day we learned from this young man, through an e-mail, that his treatments were to be covered and to proceed as scheduled. In addition to questions about rare cancers, we hear from people who are struggling with the effects of the rare group of disorders, paraneoplastic neurological syndromes (PNS). We were most fortunate to enlist the help of one of our country's foremost researchers on PNS to help us write a report for patients on this complicated syndrome. He is a member of an international consortium of researchers on PNS, and through our contact with him, we have been able to guide people to appropriate researchers regardless of the country in which they reside.
NORD services include:
Information in patient-friendly language about rare disorders. Referrals to support groups. Patient-assistance programs to help people obtain certain medications they could not otherwise afford. Research grants and fellowships to encourage the study of rare diseases. Advocacy on important public policies. Help in locating clinical trials. Assistance in identifying resources such as free air travel for sick children and their parents. A monthly news e-blast about the most current news on rare disorders. A registered nurse (RN) and genetic counselor to provide both medical and genetic guidance and explanations for people who contact us.
We feel that this is a particularly appropriate time to address your readers because of the upcoming global effort to raise awareness about rare disorders. The event Rare Disease Day will be recognized and celebrated both within the United States and overseas on February 28, 2010. The official U.S. Rare Disease Day website is http://rarediseaseday.us. Eurordis, our sister organization in Europe (a group that Abbey Meyers helped form), is the official European partner in this event. Their website is http://www.eurordis.org.
NORD thanks the Rare Tumors online medical journal for providing us with the opportunity to tell your readership about our organization and the numerous services that we provide. We hope that you will feel comfortable about contacting us, or referring your patients to us for information and support. We are entirely dedicated to our mission of “the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.”