Rare Disease Day: Importance of Fundraising and Research

For some 30 million Americans living with a rare disease is part of everyday life. Many individuals suffering from a rare disease go to sleep and wake up with the same understanding and outlook of the disease as they did the day before, or even years before – there is no reprieve. In the United States, a disease is considered rare if it affects fewer than 200,000 people combined in a particular rare disease group. February 28 is rare disease day, a time when those suffering from one of the 7,000 recognized rare diseases are given the spotlight.


This year’s rare disease day efforts are focused on research. Currently, more than 95 percent of rare diseases have no treatment and zero cures. The research necessary to find cures requires money – money that is currently not being funneled towards rare diseases. Even with the passing of the Orphan Drug Act 25 years ago, in 1983, there have only been a combined 326 new drugs approved for rare diseases.


The allocation of funds is especially concerning when approximately 50 percent of rare diseases do not have a disease-specific foundation supporting or researching their rare disease. Who is advocating for these patients?


The lack of widespread knowledge and support leads to a greater burden put on the patient. On average it takes 4.8 years for a patient to receive an accurate diagnosis. The longer it takes for a patient to receive the proper diagnosis the more doctors bills they accrue. Patients on average see 7.3 different physicians before diagnosis.


The costs associated with a rare disease do not disappear after diagnosis. The average estimated cost annually for a patient living with hemophilia, a rare blood disorder, is $131,111. That equates to $8.7 million across their lifetime.


Funding allocation for rare diseases is further complicated due to segmentation of the diseases. Each rare disease is unique and requires specialized attention from researchers. Eighty percent of rare diseases have identified genetic origins, others are the result of infections, allergies, and environmental causes, or are degenerative and proliferative.


The key to advancements for all the Americans suffering from a rare disease is a collaboration between researchers and the ability to have crossover medication and treatment options. Keytruda, a drug originally used for advanced-stage melanoma, is an example of what is possible if funding is dedicated to enabling necessary research.


The medication has been proven a viable treatment option for patients with pleural mesothelioma. There are approximately 3,000 Americans diagnosed with the rare mesothelioma cancer in the United States each year. The disease currently has no cure and very poor prognosis – patients typically only live 12 to 21 months following diagnosis. The results from the keytruda trial show progress and hope for patients.


Keytruda was an effective therapy in approximately 76 percent of the treated pleural mesothelioma patients, which represents a promising result and an improvement in prognosis. Among the 25 patients who received Keytruda, 28 percent had some shrinkage of tumors, while 48 percent of the treated patients experienced stable disease or no increase in the extent of tumors. Keytruda is just one example of the power of researcher collaboration and persistence. With more resources dedicated to rare disease research, the Keytruda breakthrough could be one among many.


If everyone with a rare disease lived in one country, it would be the world’s third most populous country – making rare diseases, collectively, not so rare. In an effort to raise funds and awareness the National Organization of Rare Disorders (NORD) is hosting a 7,000-mile rare movement. The campaign challenges advocates to join together and seek pledges to walk, run, or bike 7,000 miles collectively throughout the month of February. Research funding and relief cannot come soon enough for patients with a rare disease. On February 28 #ShowYourRare to show patients they do not fight alone.

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