The program identified carriers in the Plain community to deliver innovative treatments presymptomatically to affected newborns STRASBURG,...
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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 Weaver Family
Estelle Weaver was born a week and a half early in August 2019. Her parents, Kenneth and Eve, were thrilled at the birth of their sixth child and second daughter. Before she left the hospital, Estelle received the state newborn “heel-stick” test. Four days later, they received the call that Estelle’s test was positive for Phenylketonuria (PKU). PKU is a genetic disorder that results in high levels of the amino acid phenylalanine. “The most shocking thing for us was that Estelle was our sixth child and we didn’t know that PKU ran in our family,” explains Kenneth.
The Weavers urgently called the Clinic for Special Children (CSC) and made an appointment the next morning with Dr. Vincent Carson. During that first three-hour long appointment, Dr. Carson explained what PKU was and discussed a treatment plan for Estelle’s care with her family. “We were so thankful that CSC was an option for us,” explains Eve. “We really appreciated the time that Dr. Carson took with us that first appointment and how he connected with us. It meant a lot to our family.”
Estelle’s treatment plan includes eating a low protein diet supplemented with a specialized formula that is phenylalanine free. Eve explains the transition for Estelle’s care, “It was a little bit of an adjustment to not breast feed Estelle, but every day mixing a doctor prescribed formula recipe that is adjusted each week according to her levels was even more of an adjustment” Each week, she gets a heel prick test and sends it to CSC to monitor her phenylalanine levels. If a PKU patient is not treated, their phenylalanine levels can increase and cause irreversible brain injury resulting in intellectual disability and psychiatric issues.
Today, Estelle is a happy five-month old baby that loves playing with her siblings, especially when older sister Evelina sings to her in her rocking chair. To manage her PKU, Estelle will need to monitor her phenylalanine levels closely throughout her life. However, the future of PKU looks bright with the promise of new innovative therapies like gene replacement therapy. There are planned gene therapy trials for PKU and CSC is involved in ongoing research.
When asked about what message they would give to other parents, Kenneth and Eve say, “Allow yourself to grieve the loss of ‘normal’ for your child. Yet accept the new ‘normal’. Do what you can, the best you can for the future good of your child. Above all else remember to thank God for the roses and enjoy them, their beauty and fragrance, in spite of the thorns.”
Thank you to the Weaver family for sharing their story with Estelle and PKU!
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.