It is widely recognized that when we speak of orphan disease there are 7000-8000 acknowledged; collectively it is accepted that 7-8% of us may be affected at any given time. Yet it is rarely acknowledged that most of these syndromes have multiple markers. If you download the rare disease data base from Orphanet you find over 65,000 different flavors of 7000-8000 syndromes. If you check the list of orphan drugs approved you may find 400 or so drugs; if you eliminate duplications, you may fall below 300. Furthermore, given the pace of discovery of new drugs versus the discovery of new markers, I don’t think you would want to bet against markers topping 100,000 before orphan drugs get to 450.
I accept the reality that there has not been, is not now, and in the near term may not be cures and therapeutics for the vast majority of rare diseases. I also recognize that pursuing therapeutic treatments for the growing list of 65,000 + rare disease flavors, which may cost $10-15K per month is not a viable economic model upon which I can put my hope.
I think about the larger picture of rare diseases a lot. I am a rare disease advocate. I care for two grandchildren with rare diseases, they are my motivation. One would not be alive today without the changes of modern medicine and one, just 50 years ago, could have been a castaway to an institution were it not for sweeping cultural changes.
I am happy to collaborate with industry in advancing access to their inventions and therapeutics; but I want them to realize that on the average it does not put a dent in the aggregate problems posed by rare disease.
We are overwhelmingly a population without cures and standardized care. Our homes are often a hospitals or clinics unto themselves relying on practioners who often don’t know, being funded by insurance plans that are often hostile to our needs, and living in an era of decreased funding for research.
The industries who court us for our support are among the world’s best funded and most profitable, and need to recognize our needs span the year, every day, 24 hour a day, our needs are not limited to federal and state legislative sessions. Yet, the needs of the consumer and industry are broader and more collateral than we think. Barriers to care are not just legislative in nature. The acquisition and delivery of medical services is a greater barrier. And keeping up with its changing table of organization is just as much a barrier to a company marketing and producing its products as it is to the patient attempting to acquire medical services.
The Affordable Care Act has given more access to many people, but it has balkanized the market with each state having its own adaptions. Simultaneously, much of industry has trimmed its staff at local levels and it is ill prepared for battles being raged. It may well be that patient advocates, who must survive at the local level, are now seeing their day of power and influence ascending at the local level. Industry should broaden its dialogue with local patient advocates, it would behoove us both.