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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 Beiler Family
Kathy Beiler seemed like a typical newborn baby when she arrived in August 2018, however, the situation quickly changed. When she was two weeks old, her family noticed she was not eating as much and seemed unsatisfied with each feeding. She also began to have trouble sleeping. In the following months, Kathy’s family also noticed that she was not gaining weight as quickly as they expected.
During the first 11 months of Kathy’s life, the Beilers tried many strategies to help Kathy gain weight, including different formulas and cranial therapies, and reached out to family, friends, and medical doctors. While she grew taller, she still didn’t gain weight. It seemed like nothing was working. Eventually they learned of the Clinic for Special Children (CSC) and reached out to try and find answers.
The next week Kathy had a new patient appointment at the Clinic with Dr. Laura Poskitt, a Pediatrician at CSC, and Dr. Matt Demczko, a visiting doctor from Nemours. Kathy’s mother, Mary, explains the first visit to the Clinic, “I was very impressed at the thorough examination and was very pleased and relieved that the doctors had a good idea about what they were doing and what could possibly be wrong.” At this first visit, Drs. Poskitt and Demczko changed Kathy’s formula and did blood work to check for a reason for Kathy’s low weight and poor strength.
Later that night the on-call doctor, Dr. Vincent Carson, Pediatric Neurologist at CSC, called the family to report Kathy’s blood work results returned showing very low sodium and high potassium levels. He admitted her to a local hospital to make sure she was safe while changing formulas and stabilizing her electrolyte levels. During Kathy’s first day in the hospital, Drs. Poskitt and Carson were concerned that she could have a disorder called Aldosterone Deficiency and drew blood to run a special genetic test at CSC. Aldosterone is critical to keep normal electrolyte levels in the body. Without aldosterone, patients can experience low blood pressure, recurrent dehydration, and failure to thrive (poor growth and development).
Within three days, Kathy’s genetic test results came back positive for Aldosterone Deficiency and she was discharged from the hospital that same day. CSC doctors placed Kathy on Florinef (fludricortisone), a synthetic version of aldosterone which her body cannot make, and she began to grow, learn new skills, and her appetite improved. As a result, her weight went from being in the first percentile to a normal weight today.
Kathy is now 22 months old, has normal skills like walking and running, and is improving every day with her medical regimen and the help of a physical therapist. She has three brothers and a sister that dearly love her. The Beiler family looks forward to their visits to CSC and sharing Kathy’s improvements with the doctors. The Beilers add, “We as a family are very thankful for the blessings and encouragement we have received from the Clinic, family, and friends. And daily we strive to praise God and continue to look on the sunny side of life.”
Thank you to the Beiler family for sharing their inspirational story!
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.