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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