Did you know there are more than 7,000 known rare diseases? That rare diseases are generally defined as those with a patient population of 2% or less of the total population of a country? That nearly 400 million people in the world - more than the entire US population - have a rare disease? That many, many rare diseases are ultra-rare, with global patient populations in the hundreds? That half the people diagnosed with a rare disease are children? That roughly 1/3 of those children will not live to see their 5th birthday? That 80% of rare diseases have a genetic basis - often due to an error in a single gene? And, finally, that more than 90% of rare diseases have no FDA-approved treatment?
Decades ago, a child with a rare disease would struggle and ultimately die without a diagnosis. Today we have the ability to test for genetic mutations that create symptoms that match those presented in the child. This identification results in a diagnosis and yet, although parents today know the source of their child's disorder, they are regularly told that no treatment exists. While this is true, with today's technology, researchers could create a viable therapy or cure. Unfortunately, the cost of the research, development, and trials for each child is millions of dollars that parents must raise to move the process forward.
To eliminate cost as a prohibiting factor, it's imperative to examine the cost elements and what can be done to reduce them. In the posts that follow, I'll speak with Rare Disease Parents, specialists, and researchers as well as to the regulators overseeing treatment development and trials to learn their perspectives on possible avenues to create a more affordable model for ultra-rare disease therapies.
Until then, read about what several Rare Disease Moms are working on now: