Saturday, February 27, 2010

Rare Disease Day, February 28, 2010

For Rare Diseases, Research and Funding are Rare . . .

"A rare disease." It sounds like a bad cliché  from an old movie, doesn't it?  Of course in those old movies the beautiful and tragic leading lady afflicted with the rare disease somehow crosses paths with a (single) up-and-coming young physician who falls madly in love with her and miraculously discovers a cure.  And they all live happily ever after . . .

Even in real life we look for heroic figures (so-called "champions") to emerge when faced with a rare disease because without them, rare diseases suffer for lack of research and funding to seek a cure. 

There are more than 6,000 diseases or conditions that meet the criteria of rarity.  The National Organization for Rare Disorders (NORD) maintains a database with information and helpful links for more than 1,200 of these diseases.

Advocates for Rare Diseases Come Together

When it comes to finding a cure for a disease, there is strength in numbers.  If very few individuals are afflicted by a specific disease, condition or syndrome, the costs associated with research and funding are prohibitive.  Of course, when there are hundreds of thousands (or millions) of dollars to be spent on a research project, obviously "bang for the buck" is a guiding principle, specifically they need to determine to partake in research that will benefit the the largest number of individuals.  Drug companies invest hugely in research projects and their funding is largely directed towards the traditional diseases that affect the millions who will, in turn, buy their pills and capsules for treatment purposes.  Rare diseases are at a distinct disadvantage in both scenarios.

Orphan Diseases and Orphan Drugs

Rare diseases are sometimes called "orphan diseases."  The NORD states, "The rare disease patient is the orphan of health systems, often without diagnosis, without treatment, without research, therefore without reason to hope." 

In the United States the Rare Disease Act of 2002 defines a rare disease as one that affects fewer than 200,000 Americans. The National Organization for Rare Disorders (NORD) is a healthcare coalition of sorts, dedicated to concentrating limited resources in order to lobby on behalf of rare diseases in general.  The organization is committed to the identification, treatment, and cure of rare diseases through programs of education, advocacy, research and service. Among the outstanding accomplishments of the NORD is their successful lobbying that resulted in the 1983 Orphan Drug Act.  This act legislated tax incentives and more perks for drug companies to produce the relatively small amounts of pharmaceuticals needed by individuals affected by rare diseases.  These incentives allowed the drug companies to produce these drugs and still recognize a profit.  
Why is Rare Disease Day Important?

Rare Disease Day is an opportunity to provide information about the disparity in healthcare that results when individuals are afflicted with a rare and difficult condition.  It's also an occasion to advocate on behalf of patients with rare diseases and their families who often struggle with isolation, complex medical needs, financial and emotional stress.

Parents of Children Affected by Rare Diseases . . .  

. . . this is a place for you:  Children's Rare Disease Network.  Here you can connect with others through social networking, keep up with breaking news via their e-newsblog, SNIPS, share your story, get involved in advocacy projects and more . . .

Oliver's Story, in the words of his parents . . .

. . . read how Oliver and his family are coping with a rare disease at their new blog: Oliver's Story.

More links of interest:
. . .

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