- Posted Wednesday August 7, 2013
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
"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.
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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.
TGen Senior Science Writer