They are sometimes unheard of by the public and, unfortunately, sometimes hard to diagnose for doctors.
They are rare diseases and today is Rare Disease Day.
In the United States, a rare diseases is generally defined as one that affects fewer than 200,000 people, though a few ailments with more people are included because of variations.
The National Institutes of Health suggests there are about 7,000 rare diseases. The NIH search-able data base has information on many of those disease and a link is here.
Figuring better support can be had by working together, patient advocacy groups for those diseases formed the non-profit National Organization for Rare Disorders, which estimates that 30 million Americans - one in 10 - has one of the diseases. The link is here.
The Orphan Drug Act of 1983 was designed to encourage drug companies to invest resources in developing pharmaceuticals to fight such diseases, and the law did spawn commercial growth.
Frazer-based Cephalon, founded in 1987, used success with Provigil and Novogil, drugs for narcolepsy, to grow to the point that Teva Pharmaceuticals spent $6.8 billion to acquire Cephalon in 2011.
Malvern-based Auxilium is 12 years younger but also works in the orphan drug space. It's Xiaflex is the only FDA-approved nonsurgical treatment for adults with Dupuytren's Contracture with a palpable cord. The condition involves fingers that bend toward the palm of the hand and can't be extended.
“Auxilium is very pleased to participate with NORD in this global observance of Rare Disease Day,” Adrian Adams, chief executive officer of Auxilium said in a statement. “Hearing from physicians and patients about how their rare diseases affect their lives and what Xiaflex represents for them is an inspiration for the employees of Auxilium.”
Big companies have added rare disease divisions or departments and struck deals with smaller firms to develop such drugs. The Wall Street Journal reported that GlaxoSmithKline spent $300 to collaborate with a Canadian biotech Angiochem to work on drugs for lysosomal storage diseases.
But rare diseases are not exempt from the national debate on health care costs. Because there are few patients - and often few manufacturers - prices for some orphan drugs can run quite high.
NORD joined 13 other patient groups including the Friends of Cancer Research and the March of Dimes in filing an amicus brief (friend of the court) with the Supreme Court in support of President Obama's health care plan, officially called the Patient Protection and Affordable Care Act. NORD. The court will hear oral arguments on challenges to the law in March. The brief is here.