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Pennsylvania clinic improving lives through proper diagnosis

Almost everyone knows how important regular newborn screenings are. When coupled with regular well-child checkups, many diseases that affect children can be diagnosed. In the Pennsylvania Amish country, doctors are doing research on a genetic condition called glutaric aciduria type 1. This metabolic disease, which is also known as GA1, prevents the breakdown of specific proteins, according to Baby's First Test.

GA1 affects a disproportionate number of Mennonites and Amish people. The symptoms of this condition seem to mimic cerebral palsy. A 6-year-old Amish boy was taken to Children's Hospital of Philadelphia in 1988. He was unable to use his limbs and had brain damage. A doctor there thought the boy had cerebral palsy, but that wasn't the case.

A biochemical genetic specialist diagnosed the boy with GA1. He and his wife then founded a clinic in the midst of the Plain People to study diseases and genetic mutations that affect the population. While the work is mainly with the Plain People, it can help others as research moves forward.

The work being done in Pennsylvania is making differences in the lives of children diagnosed with GA1. For children who aren't properly diagnosed at a young age, the prognosis is very poor. This highlights how important it is for doctors to explore all possible conditions and diseases when a child is taken in for medical care.

A failure to diagnose GA1, for example, can mean that a child will suffer severe disabilities because of irreversible brain damage. When diagnosed early, dietary restrictions and other care can enable them to lead a normal life.

When a child has to suffer because a doctor doesn't make a proper diagnosis, the parents might choose to seek compensation to help care for the child's future medical and lifestyle care.

Source: The Washington Post, "Pennsylvania clinic treats genetic disorders in Amish and Mennonite people" Nancy Szokan, Oct. 21, 2014

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