The Lapp family graciously wrote about their journey with their son, Ian's, diagnosis of Glutaric Aciduria type...
On Friday, November 22, 2019 over 290 Extraordinary people made a donation to the Clinic for Special...
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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 Medical Home That Makes a Real Difference
Our clinic serves as a trusted medical home for Amish and Mennonite families working to prevent and treat genetic illness in their young children. 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 Rosebrook Family
Brittany Rosebrook noticed something wasn’t quite right during her pregnancy when she didn’t feel her son Tanner kicking or moving actively. After Tanner was born at the hospital, he was sent for a car seat test and was promised to be returned within an hour. This test places the baby in a properly reclined car seat while nurses monitor their breathing and respiration to make sure they can safely travel if they have weak airways. After more than an hour passed, Brittany learned that Tanner started having seizures during the test and was transferred to a different hospital’s NICU.
Tanner’s initial hospital stay lasted two weeks and was riddled with countless tests and labs that all came up inconclusive. When the family finally arrived home, Tanner developed severe dystonia of all extremities that required emergency medication. The episodes occurred multiple times a day, lasting up to three hours each, and required rescue medications to end them.
At five months old, Tanner went to a local children’s hospital for evaluation of severe dystonia and received the genetic diagnosis of Alternating Hemiplegia of Childhood. This is an extremely rare disorder where half of the body can be temporarily paralyzed. In addition, involuntary muscle movements can also happen. The Rosebrook family finally had a diagnosis, but Tanner’s journey was still a mystery. Alternating Hemiplegia of Childhood affects about one in a million people, and Tanner’s specific genetic variant, in the gene ATP1A3, had never been reported before. The variant is de novo, meaning it was a random event and not inherited from either parent.
Brittany explains that after Tanner’s diagnosis, they went to a neurologist and other specialists before finally visiting Dr. Devyani Chowdhury at Cardiology Care for Children in Lancaster, PA. Once Dr. Chowdhury saw Tanner, she told the family that they needed to go to the Clinic for Special Children to see Dr. Vincent Carson.
Brittany distinctly remembers the first time Tanner visited the Clinic, Dr. Carson exclaimed, “He’s so handsome!” Dr. Carson’s goal after this first visit was to provide Tanner the best quality of life possible. He worked with the family to reduce the amount of medications Tanner was on and implement an optimized nutrition plan. Brittany explains,“Dr. Carson has provided us a life and we’re not in constant survival mode anymore. There’s this fearless neurologist that sees Tanner’s potential and wants to get there. He treats Tanner like a human and not a subject.”
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.