Rare Disease Day; Every Day

So February 29 is Rare Disease Day.  This year marks the fifth anniversary of the event, and what started with a few countries in Europe has now spread to over 60 countries.  The main focus is to raise awareness among the public and decision-makers about rare or ‘orphan’ diseases and their impact on patients’ lives.

Their definition of a rare disease is one that affects a small number of people.  In Europe that means fewer than 1 in 2000.  In the United States it means fewer than 200,000 at any given time.  But if it disrupts your life and is potentially fatal isn’t it a rarity?

Lets take a look at our group of supported diseases:

• Alpha 1 Deficiency:  Affects 1 in every 2,500 people in the United States.  This represents about three percent of the 12 million people who have been diagnosed with COPD, but another 12 million don’t know that they have it.  An estimated 20 million Americans carry the gene.
• Chronic Granulomatous Disorder:  Only about 1 in 200,000 people have this, but four hundred or so people fills a room pretty quickly.
• Complex Partial Seizures:  A very small subset of Epilepsy, but being diagnosed with this makes you part of a community of 50 million.
• Factor XIII Deficiency:  Kind of like Complex Partial Seizures in that it affects one in five million, but over 600,000 Americans die every year from some form of clotting disorder.
• Pulmonary Fibrosis:  IPF is one of about 200 interstitial lung diseases, but about 40,000 die of it and almost 50,000 find out that they have it every year.
• Huntington’s Disease:  Affects over a quarter of a million people but having a parent with the disease gives you a 50/50 chance of having it yourself.
• Infantile Spasms:  Called the “most enigmatic” of all of the epileptic syndromes, it is very uncommon and often has no known cause.  It commonly begins in the first several months of a child’s life, and while they often disappear, children who experience infantile spasms generally stop developing cognitively.
• Narcolepsy:  While it is estimated that over 200,000 people are known to have narcolepsy, it generally takes almost a decade of confusion for most of them to be properly diagnosed.
• Pulmonary Hypertension:  While there are a couple of types of PH, and a variety of symptoms, they all present as continuous high blood pressure and it can lead to heart failure.  There are about 150,000 hospital discharges each year in which PH was one of the diagnoses.

Each of these groups represent but a fraction of the number of people in the world, and with our world population pushing 7 trillion, that may not seem like many.   But if you look at them as a group, it is millions of people, and that IS a lot.  There is someone born in the United States every 8 seconds, and someone dies in our country every 12, so there is a pretty good chance that at some point in their lives they will have crossed paths with someone facing one of these diseases.  Think of it as a “Six Degrees of Disease Separation” game.

Perhaps that community doesn’t seem so isolated any more.

And none of these diseases are brand new.  People have been researching narcolepsy, Huntington’s, pulmonary hypertension, and the others for decades, and in some cases centuries.  They aren’t the common cold, but they have a commonality:  They make people sick, make them scared, and quite often are not curable.  So having Congenital Factor XIII Deficiency doesn’t make you unusual; rather it makes you a part of a community.

Perhaps we need to make February 29 just like every other day, a “Living With My Disease Day”, and raise the awareness that there is this vast network out here that is trying to get by.  You get a birthday once per year (with the exception of our Leap Year!), and anniversaries creep up on us, but every morning that you wake up and take a breath it’s a “rare disease day”.  Let people know why you’re observing it.

We are.