Wednesday, March 1, 2017

Living with rare

80% of rare diseases have their origins rooted in genetics, and 50% of rare diseases occur in children.  Yesterday was World Rare Disease Day.  It is a day that takes place the last day in February every year with its purpose to bring awareness to the 7000 existing rare diseases.  CDKL5 is one of those rare diseases with less than 2000 diagnosed cases worldwide.  Prior to April 2015 our family was unaware of the fun facts the surround rare diseases, facts such as 95% of rare diseases do not have ONE single FDA approved treatment, and 30% of children with rare diseases do NOT live to see their 5th birthday.  The mere fact that a specific day was created to bring awareness to the public and decision makers to eliminate the challenges individuals and families encounter who have rare diseases says enough in and of itself.

Yesterday I wore my grey long sleeve CDKL5 awareness shirt, green leggings, and a jean skirt.  I went about my day as usual, and had the opportunity to pass out two Sonya's Story business cards.  Both of the above were intended to educate others on one rare disease, and let us be honest, it is really the only thing I can do.  CDKL5 is just one rare disease that currently has no known cure and will not during Sonzee's lifetime (sorry but not sorry to write those words out).  It is just one of the rare diseases that does not discriminate who it affects, nor does it spare its inhabitants from vast amounts of heartache.  Sadly, unless you know and love someone who suffers from a rare disease you would spend your life in a blissful state of ignorance (I know, I used to live there).


For the last two years on the last day of February I have celebrated a day I would rather not know existed.  For two years, I have not only learned about CDKL5, but I have become aware of rare.  For two years, I have cried over the loss of too many children whose bodies were just too tired trying to fit into a world that is not adequately prepared for rare.  For two years, I have spent some days pleading with g-d, begging for Sonzee not to leave me, and others asking for her to be set free.  For two years, I have walked a tight rope that has changed who I am, but has given me a direction of where I am going to go.  Looking back on the past two years, I guess it makes sense that one four letter word could be defined by both "not occurring very often" and "unusually good and remarkable", because that about sums up living with rare.


**Information was referenced from www.globalgenes.org, and www.rarediseaseday.org.

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