Thursday, February 28, 2013

Rare Disease Day 2013

Hi everyone! I just wanted to stop in and let you know that today is Rare Disease Day!  This is a special day for me both in my work AND my personal life. 

As you know, Charlie has Cystic Fibrosis, which qualifies as a rare (or orphan) disease.  As you can see above, it doesn't get him down :P  Luckily, CF is a rare disease that is pretty well researched, easy to diagnose, and has made great strides in the past few years (including increasing life expectancy and new, better medications). 

Thanks to these things Charlie is thriving and we are very happy about that! While CF does not have a cure, it is still manageable to a point using medications and aggressive treatment options.  There are many diseases out there that affect people who aren't so lucky.

SN: My husband Robb Cyr took these photographs, and for some reason I never remembered to share them here until now.  They are back from October, Charlie was Max for Halloween :)  These are probably my 2 favorite pictures of Charlie EVER!

The company I work for produces a drug for the rare diseases PNH and aHUS, while having other drugs in the pipeline for other types of rare diseases.  My company specializes in ultra rare diseases for which there are no cures/treatments.  Before this drug (which happens to be the most expensive drug on the market) patients with PNH and aHUS had very limited options, and this drug has worked wonders for many of them - allowing them to return to school, work, etc.  Pretty cool!  So today at work we are having a Rare Disease Day presentation with patients that are actually taking our drug.  It should be very interesting, and just one more reason I can identify with all rare disease parents/patients around the world. 

In other news I have 5 layotus I am dying to share with you but I just can't seem to take a decent picture of them myself!  Robb has been SUPER busy lately but I'm hoping to beg and plead enough tonight to get some quick photos from him :)  Hopefully I can share them soon!


  1. I love these pictures of Charlie! Such a handsome guy!

  2. What an adorable young man u have!! Thanks for sharing these pictures!!!
    Have a GREAT day and thanks for my happy mail :)
    Inspiration galore!!

  3. OH MY GOODNESS Charlie as Max is the CUTEST thing I've seen!


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