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As a college student, Jodie Vento dreamed of a career that would combine her interest in cutting-edge science with her desire to connect with patients and families.
She discovered that career in genetic counseling and now, as manager of the Center for Rare Disease Therapy at Children’s Hospital of Pittsburgh of UPMC, she says she has her dream job.
“It’s very rewarding to be able to help families through their journey along the challenging road of dealing with a rare disease,” she says.
Jodie is frequently the first point of contact for families who call or email the Center. In many cases, those families are confused and in need of answers. They have a very sick child for whom they may not have a diagnosis despite having seen multiple doctors. Or they may have been given a diagnosis of a disease they have never heard of and been told is very rare.
“When a family is facing a rare disease, the person who answers the phone should––at a minimum––recognize the disease name, be able to pronounce it, and understand what needs to happen next for their child to get the care he or she needs,” says Jodie.
Many of the conditions treated at the Center for Rare Disease Therapy are caused by a missing or malfunctioning gene. Jodie uses her genetic counseling skills to help families understand the genetic abnormality that underlies their child’s illness. She also serves as a care coordinator, arranging their appointments with the multiple specialists they will likely see when they visit the Center.
After completing undergraduate degrees in biology and psychology at the University of Pittsburgh in 2005, Jodie earned a Masters in Genetic Counseling from the University of Maryland Medical School in Baltimore in 2008. She worked as a genetic counselor and neurogenetics program coordinator at Children’s National Medical Center in Washington, DC, before joining Children’s Hospital of Pittsburgh in 2012.
The Center’s focus on individualized, coordinated, multidisciplinary care makes it unique, says Jodie. As manager, another part of her job is to prepare a summary of each new patient’s medical record that is presented at a medical team meeting.
“We have a team of dedicated experts across eight pediatric disciplines who come together to discuss the best approach to each patient’s case,” she says.
Because many rare genetic disorders don’t have cures and standard therapies often don’t exist or are of limited effectiveness, innovative thinking is key, she continues.
“With experts from a wide variety of backgrounds weighing in, we’ve learned that it’s possible to take knowledge gained from one condition and apply it to a condition that’s different but may have areas of overlap. I value working with a team that is always striving to find innovative approaches that help children and their families.”
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
Children’s Hospital of Pittsburgh of UPMC
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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