Without
context, a piece of information is just a dot. It floats in your brain
with a lot of other dots and doesn’t mean a damn thing. Knowledge is
information-in-context…connecting the dots.-Michael Ventura
The above quote recently resonated in Aislinn’s world when I learned my blogs for Miracles for Mito had traveled across the pond. To my surprise, it was a doctor in the United Kingdom that had seen my blogs! How cool is that!?!
With much excitement I began corresponding with Dr. Fry, an established genetic specialist from the Institute of Medical Genetics at the University Hospital of Wales. He has been doing research into the genetic basis of childhood disease since 2004. He was interested in Aislinn’s confirmed GRIN1 mutation and possibly including her medical data in a paper that could consolidate what is known about GRIN1.
*
The above quote recently resonated in Aislinn’s world when I learned my blogs for Miracles for Mito had traveled across the pond. To my surprise, it was a doctor in the United Kingdom that had seen my blogs! How cool is that!?!
With much excitement I began corresponding with Dr. Fry, an established genetic specialist from the Institute of Medical Genetics at the University Hospital of Wales. He has been doing research into the genetic basis of childhood disease since 2004. He was interested in Aislinn’s confirmed GRIN1 mutation and possibly including her medical data in a paper that could consolidate what is known about GRIN1.
*
Believing
in my heart that power is knowledge, more connections were made with the
fabulous Children's Hospital Colorado genetics team who identified her GRIN1 mutation
and Emory University where her mutation is being studied. I
felt it would be beneficial to the medical community at large, and for other
families recently diagnosed (or searching for a diagnosis) of GRIN 1 defect to
have a collaboration of as many specialists as possible. These connected
dots have profound possibilities. Who knows what might come out of these
newly connected dots?
I
am very grateful that Dr. Fry reached out to me, and I wish to continue down
this path for two main reasons:
1) More minds, the better. Anything we can do to mitigate the symptoms and increase the quality of life is most welcome.
2) To “blaze the trail” for current or future families afflicted with this defect.
Someone pinch me because sharing Aislinn’s journey through blogs has been healing. Knowing that her struggles have created an interest for those in the medical field and across the world is more than I could have ever asked from God or the Universe! I am honored to have been contacted by him and others.
Aislinn is on this earth for a reason, hers is to be the guiding light and trail blazer for others to better treatment and hopefully a future cure. In her own rite, she is a Rockstar! She says so herself!
1) More minds, the better. Anything we can do to mitigate the symptoms and increase the quality of life is most welcome.
2) To “blaze the trail” for current or future families afflicted with this defect.
Someone pinch me because sharing Aislinn’s journey through blogs has been healing. Knowing that her struggles have created an interest for those in the medical field and across the world is more than I could have ever asked from God or the Universe! I am honored to have been contacted by him and others.
Aislinn is on this earth for a reason, hers is to be the guiding light and trail blazer for others to better treatment and hopefully a future cure. In her own rite, she is a Rockstar! She says so herself!
Much
love,
Michelle D. Voss-Shelley, APA
(Mom to eight year old Aislinn with a GRIN1 mutation)
* Image per http://news.bbcimg.co.uk/media/images/68963000/jpg/_68963038_hosp.jpg
Michelle D. Voss-Shelley, APA
(Mom to eight year old Aislinn with a GRIN1 mutation)
* Image per http://news.bbcimg.co.uk/media/images/68963000/jpg/_68963038_hosp.jpg
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