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- Posted Wednesday August 7, 2013
TGen's 'Medical Miracle' — now wheelchair-free — celebrates 13th birthday
Shelby Valint, following TGen genomic sequencing, able to walk and talk, even run and dance; urges public to help other children like her
PHOENIX, Ariz. - Aug. 7, 2013 - Shelby Valint,
described as a "medical miracle girl" following genomic
investigations by the Translational Genomics Research Institute
(TGen), is a teenager today, something her mother sometimes doubted
would happen.
"This is such a miraculous milestone that we sometimes didn't
think would come," said Renee Valint, whose daughter Shelby was
confined to a wheelchair for most of her life. She was unable to
walk, could barely talk and sometimes had difficulty swallowing
food and breathing.
In celebration of Shelby's 13th birthday today, her family is
asking that donations of $13 be sent to TGen and its Center for
Rare Childhood Disorders.
After years of inconclusive medical tests, Shelby's doctor
suggested sequencing her genome. TGen's advanced DNA sequencing
discovered a flaw in Shelby's genetic code that was preventing her
from producing sufficient dopamine, a natural brain chemical needed
for muscle control and balance.
Shelby was put on medication usually given to patients with
Parkinson's disease, and within weeks she began to improve. Within
a few months, she had abandoned her wheelchair. She could walk and
talk, eat her own food and breathe effortlessly. The now soon-to-be
8th grader was greeted at her school with tears of joy from other
students and her teachers.
"Please celebrate by donating $13 for Shelby's 13th birthday to a
wonderful organization that literally changed her life by allowing
her to walk and talk like the rest of us. It's so easy to take
these things for granted - walking, talking, eating, even breathing
- but Shelby is now wheelchair-free. We are truly blessed," said
Shelby's mother, Renee.
The Valint family is urging donors to make checks out to TGen, and
send them to Renee Valint, 515 E. Carefree Highway, #1274, Phoenix,
AZ 85085.
"Please don't think your small token of love doesn't matter,
because every little bit does. Thank you for your support,'' said
Shelby's father, Scott.
"Thanks to TGen, I am now able to do all the things other
teenagers can do," Shelby said. "I hope that what happened for me
can happen for many other children, too."
TGen is researching the underlying genetics behind dozens of
children with as yet undiagnosed neurologic conditions. The sad
fact is that many children with such rare disorders never make it
to their 13th birthday.
Shelby's case is just the tip of the iceberg. Hundreds of other
patients have been helped through TGen's research, which not only
is directing previously approved drugs to patients who can benefit,
but is engaged with universities and hospitals throughout Arizona
and around the world in an effort to develop new therapies to
combat neurological disorders, diabetes and other metabolic
diseases, and many types of cancer.
# # #
About TGen
Translational Genomics Research Institute (TGen) is a Phoenix,
Arizona-based non-profit organization dedicated to conducting
groundbreaking research with life changing results. TGen is focused
on helping patients with cancer, neurological disorders and
diabetes, through cutting edge translational research (the process
of rapidly moving research towards patient benefit). TGen
physicians and scientists work to unravel the genetic components of
both common and rare complex diseases in adults and children.
Working with collaborators in the scientific and medical
communities literally worldwide, TGen makes a substantial
contribution to help our patients through efficiency and
effectiveness of the translational process. For more information,
visit:www.tgen.org.
Press Contact:
Steve Yozwiak
TGen Senior Science Writer
602-343-8704
[email protected]
