To donate to our campaign, please click here: https://tgen.fundly.com/hall-of-famers/donate
If
you have made it this far, you are aware that we are running the P.F. Chang’s
Half-Marathon in January and we are hoping that you will either join our team
as a runner or as a supporter! I plan to
update this blog once a week and over the next few months tell our story of
searching for a diagnosis for our 2.5 year old daughter Emilia.
My
name is Mary Crowell and my daughter Emilia has a very rare genetic
condition. It is so rare in fact that
there really isn’t a current existing diagnosis that fits perfectly. Through cutting-edge technology, TGen was
able to sequence Emilia’s collection of genes (+3 billion lines of genetic
code) and determine which genetic variation was likely causing all of her
symptoms. Her case was particularly
complicated because she has an error that has not been inherited from myself or
my husband, but rather is considered a random mutation.
I
can hardly explain the excitement we felt when we were told that there may
finally be an explanation for all of her various health issues, and even more
importantly perhaps there could even be a treatment someday. As I mentioned, this type of research is
cutting-edge…and it is going to take a significant more amount of this type of
research to build a treatment for Emilia’s condition because nothing exists to
date, but we have to start somewhere.
As
many of you know, we have traveled to a number of doctors across the country
for a diagnosis and treatment. The
promise of having a facility here in Arizona that is truly able to solve these
very complicated medical conditions and develop first of their kind type of
solutions would truly be a miracle. As I
said on the main site, we truly are hopeful.
As
for our team name “Hall of Famers:”, I will give a more detailed explanation as
I retell our story over the next few months, but here is the jest. Prior to being pregnant with Emilia, I
started writing a book exploring how to best raise girls today. I really wanted to understand how do you
instill truth, beauty and goodness and encourage them to be successful without
compromising any of those qualities?
As
I think the phrase goes, “Man plans, God laughs.” From the instance we realized something might
be wrong with Emilia when I was 5 months pregnant, I stopped writing because I
was struggling with what success really meant.
Throughout these last couple of years my definition of success began to
change dramatically. In fact, there have
been times that we have thought if we just kept her alive into her teens that
would equal success. But after reading
literally hundreds of research studies that are looking into Emilia’s
problematic gene (much of these studies performed on mice), I really have refined
my definition of success for her. Our
boys love the song entitled, “Hall of Fame”.
Every time I hear it, I think of Emilia because I have really come to
believe that she can be and do anything and I see no limit to her success…just
as I do for my 3 healthy children. We
really wanted the song to be our team’s theme song! Here’s a link if you have
not heard the song: Hall of Fame on You Tube
We
know that we have truly AMAZING friends and family…and we are hopeful that we
will build an enormous support team! We
hope to have captains at a number of local companies where you all work...you
know who you are and I am sure are anxiously awaiting my call J.
Please help us spread the word by sharing this site with your friends
and family! If you would like to
volunteer to be one of our captains, please send me a note at me_crowell@yahoo.com.
There
are a number of options for involvement including signing up as a team runner
from our site (which means together we will raise $1,000 for each runner), you
can sign up to donate but not run at all, or you could run by signing up
through the official PF Chang’s Rock and Roll Marathon site but still submit a
donation on our site. Let me know if you
have any questions. Thank you for your
time and consideration!!
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