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Dr. Kevin Strauss lead author on recently published papers demonstrating the safety & efficacy of SMA gene therapy
Recently published companion papers detail the safety and efficacy of onasemnogene abeparvovec, a gene replacement therapy for...
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There is a way to use the power of genetic knowledgeand biochemical knowledge to predict and prevent disabilities in children. And I've devoted my life to that idea.
A Comprehensive Medical Practice That Makes a Real Difference
Our clinic serves as a trusted medical practice for Amish and Mennonite families working to prevent and treat genetic illness. The sturdy, timber-framed building was “raised” by the hands of those in the Anabaptist community it serves just outside of Strasburg, PA. Inside, it is filled with an array of high-tech gene sequencing tools that allow us to deliver highly personalized care—a precise treatment option for the right patient at the right time.
The Zimmerman Family
Jared Zimmerman was a typically active child for the first three years of his life. Shortly before his 4th birthday, he started to mention to his family that he felt “dizzy” when playing with his siblings and friends. When a dizzy episode would hit, he learned to lay down and it would pass in time.
The infrequent dizzy episode soon increased to about twice per week. He kept having episodes for several months until he suddenly was experiencing them two to three times per day. His parents, Ella and Timothy Zimmerman, knew something wasn’t quite right and took Jared to the Compassion Parochial Clinic in Mifflinburg for examination.
Stacy Chubb, CRNP immediately ordered an MRI for the next day, which did not show anything unusual. Around this time, Jared was now having about six to seven episodes a day and started displaying more prominent seizures with stiffening and shaking. Stacy referred the family to the Clinic for Special Children where he was seen by Dr. Vincent Carson, Pediatric Neurologist.
Dr. Carson started Jared on a seizure medication called oxcarbazepine. Within the first days of starting the medication, the Zimmerman family noticed Jared was experiencing shorter seizures. Dr. Carson met with the family a month later at an outreach clinic in Mifflinburg organized by the Clinic. “We definitely appreciate that the Clinic does outreach in Mifflinburg. It’s much easier to access for us,” explains Ella.
By that time, Jared was already completely seizure-free. “Our time meeting with Dr. Carson was very positive,” says Ella. Dr. Carson ordered genetic testing to determine that Jared had a misspelling in the DEPDC5 gene, which was causing his seizures.
The DEPDC5 gene provides instructions for making the DEPDC5 protein which is important for regulating the mTOR pathway. The mTOR pathway is important for the growth and development of nerve cells. Therefore, changes in DEPDC5 can lead to brain malformations and seizures. Interestingly, people with changes in DEPDC5 only sometimes experience seizures.
“When we received the diagnosis of DEPDC5-related epilepsy, we were glad to know what we were dealing with. We have extended family that have the DEPDC5 genetic variant, so the diagnosis made sense,” explains Ella. Today, Jared has been seizure-free for almost a year. He loves to draw and play outside in the woods.
“We appreciate the research on genetic disorders that the Clinic does. It’s why we chose to go to the Clinic because we trusted that they knew a lot about DEPDC5,” says Ella. “If you have epilepsy in your family, it would be a good idea to get genetic testing so you know if your children may have it.”
Thank you to the Zimmerman family for sharing their story and we are inspired by Jared’s progress!
Help us to continue to provide patients with timely, affordable and effective care!
Our clinic serves as a trusted medical home for families working to prevent and treat genetic illness in their children. Serving predominantly Amish and Mennonite families, the sturdy, timber-framed building was "raised" by the hands of those in the Anabaptist community outside of Strasburg, PA. Inside the clinic is filled with an array of high-tech gene sequencing that allows us to deliver state of the art care in a nurturing environment.