Rare Disease Day~ February 28, 2014

I will never forget the day my husband and I walked into our family doctor's office for what we thought was allergies he had developed.  Our doctor listened to his symptoms, and sent us down the hall for an X-Ray.  Back in the room we waited about 15 minutes for the doctor to come back and tell us what he thinks is the problem.  I remember looking at my husband, who had normally been so strong and fit, and thinking how vulnerable he looked sitting in his chair.  At 49 years old, he had rarely had the need to ever go to the doctors, and with such slight, but persistent symptoms, we just thought it would be a good idea to go in and get him some allergy meds.  The fact he rarely ever had the need to go into the doctor is why he looked so vulnerable.  It was just plain uncomfortable for him to be there in the first hand.  

I squeezed his hand and gave him a little wink and told him it is nothing to fret about and everything was going to be okay.  I was sure of it.  Soon the doctor entered the room holding the X-Rays of my husband's lungs in his hand.  As he whisked the door open, I will never forget the very first words he said to us. 

 With a big smile on his face he said, "Good news~ it's not cancer!"  

Relief swept over us as he told us what he thought it was~ Pulmonary Fibrosis.  He then sent us to get a CAT Scan to confirm this and sent us on our way home with a business card and appointment to a local Pulmonologist.  On the way home, I told my husband, I would Google the disease for him and we both felt assured based on the doctors presentation, that it was nothing too serious.  

We couldn't have been more wrong.  As I began to Google the information, I found dryly written medical documents that provided some information.  But, I could read between the lines.  This is a very serious, life threatening disease.  In some aspects, I slowly began to yearn for the doctor to have said it was cancer.  That is a pretty horrible thing to wish for, although I could not help it.  It seemed that there were more treatments,  information, and support available for cancer than there was for Idiopathic Pulmonary Fibrosis.

Without knowing very much, I resolved to start writing about our personal experience.  At that time it was solely for the idea that if, unfortunately, another person was diagnosed with my husband's disease and they Googled its name, that there would be more of a human aspect behind the diagnosis.  

Today is Rare Disease Day and the idea behind this project is similar to my initial efforts.  To raise awareness and connect those who have a disease that is considered rare and may not receive the support and information that comes with a better known disease.  

From their website the classify a rare disease as:

A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000.

A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time.

One rare disease may affect only a handful of patients in the EU (European Union), and another touch as many as 245,000. In the EU, as many as 30 million people alone may be affected by one of over 6000 rare diseases existing.

• 80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.
• 50% of rare diseases touch children.

This year, the Rare Disease Day theme is CARE.  

Patients and their families who feel isolated by the rarity of their disease should know that there are more than 6000 different rare diseases affecting over 60 million people across Europe and North America alone and millions and millions more throughout the world. Most of these diseases are genetic, serious, chronic and debilitating. Each disease is different, but they affect people in similar ways. Joining together can help patients and their families find common solutions for care and remind them they are not alone.

Please give their website a visit and show of support!

http://www.rarediseaseday.org/