STRASBURG, PA & TOPEKA, IN- Researchers and clinicians through a multicenter collaboration have identified a novel multisystem...
On Friday, November 16, 2018 over 210 Extraordinary people made a donation to the Clinic for Special...
STRASBURG, PA- Researchers have identified a novel missense mutation in tyrosyl-tRNA synthetase (YARS c.499C>A, p.Pro167Thr) that causes...
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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 Martin Family
“An angel among us,” is how Ruth Martin describes her son, Darren Lee Martin (‘Lee’). Pictured with his parents, Ruth and Darren, and older brothers Adam and Tristan, Lee’s joy is evident. At six weeks old, mom and dad started to notice that Lee wouldn’t giggle, laugh, and was unable to follow them with his eyes. After several visits to pediatricians and specialists, the Martin family was referred to Clinic for Special Children (CSC).
Lee first visited CSC when he was six months old. Dr. Strauss worked to manage Lee’s symptoms while Dr. Puffenberger worked towards a genetic diagnosis. When CSC started collaborating with the Regeneron Genetic Center in 2014, the Martin’s GNA was one of the first sent for an advanced genetic testing called exome sequencing. A de novo mutation was found in one of the five genes known to cause Kleefstra Syndrome
Kleefstra Syndrome is characterized by intellectual disability and a spectrum of physical and clinical symptoms. Since the symptoms can be diverse, it makes managing care challenging. Although there are no cures for KS, there are many options for the management of symptoms. Since there is no definitive prognosis for Lee, the Martins face one day at a time. Darren and Ruth have found strength in their faith and support from their family and friends. Now a vibrant nine-year-old boy, Lee’s favorite things are to wrestle with his big brothers, spend time outdoors, take car rides, and swinging. “We are so grateful to Dr. Strauss and the Clinic team for their compassion. Dr. Strauss has made a big difference for us, always making sure we, his family, are also taken care of as well as Lee,” says Ruth. “Life doesn’t stop when your child is diagnosed with a rare disorder.”
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.