Why Rare Is Not So.....Rare

Image shared from Rarediseases.org

Since I started this blog a year ago this week I have shared all kinds of statistics on here. And little has changed, rare diseases affect about 1 in 10 in the U.S. But there is something about that 1 in 10 that has changed....We have gotten a name for what Bruce Willis has, it is the same illness that Wendy Williams just told us about in herself last week, Celine Dion shared publicly that she is suffering from a rare disease and most recent Amy Schumer has disclosed the reason for her changing appearance is the affect of a rare condition. All of this is a reminder that not only is rare disease not rare, but also that it does not discriminate.

Rare Disease affects the young and the old. When we think of chronic diseases that impair life functioning, we probably get a picture in our minds of an older person with a walker, possibly on oxygen. But the truth of the matter is that over 50% of rare diseases occur in children. Our youngest are the most vulnerable when it comes to rare diseases. This is why early diagnoses and diagnostic tools like newborn screenings are critical to the rare disease community.

Some may picture in their mind's eye, a weak person who has not taken care of themselves, either frail or quite overweight. And then we see people like Bruce Willis and Celine Dion, who obviously worked hard to care for their bodies. They probably had people that consulted on what was best for them nutritionally and movement-wise to be in the optimal shape for their careers. Yet for both Bruce Willis and Celine Dion their rare diseases have made their movements more difficult that their age would suggest they should be.

All of the celebrities that I mentioned had been in public, on stage communicating (though admittedly I know little about Wendy Williams). So, their communication skills were most likely above average - as their livelihoods depended on performance in front of some type of audience. They had been trained in these skills with the best of the best, and at least some of these names were at the top of their industry at times. And now Bruce Willis, according to latest reports cannot no longer communicate, Celine Dion's illness can affect the muscles that are needed to sing.

And I want to point out that these people I mention also have the money. They could pay for the cures....if they existed. While the number of identified rare diseases ahas grown to 10,000 now, what not has not changed is the percentage with treatments and cures - there we are still stuck at less than 5%. This does not mean that they exist, but only certain people have access. It means in a world where we can sent messages across the globe in an instant, land spacecraft on the moon and Mars, and have basically taught computers to think and work for us - we still have not found treatments or cures for the great majority of rare diseases that affect over 300 million worldwide!!

While Leap Day may be rare. And while each rare disease on its own may be rare. Rare disease on its own is not rare. Not only that if it does not affect you or someone you love - there is a good chance that at some point it will. Help us spread awareness and bring light to the 30 million Americans living with a rare disease, in hopes of one day soon having treatments and cures for all!!