If your baby receives abnormal results from their newborn metabolic screenings and was born in Pennsylvania, New Jersey or Delaware, your family will be referred to the Newborn Metabolic Screening Program at Children's Hospital of Philadelphia (CHOP). CHOP's specialized program will confirm your child's diagnosis, discuss treatment options, and provide ongoing care.
Learning your child may have an inborn metabolic disorder can be upsetting for families who want immediate answers. At CHOP, our team of doctors, nurses and genetic counselors can confirm most of these diseases on your child’s first visit with us. There are a few metabolic disorders that may require additional genetic testing, but our goal is to provide your family with individualized treatment recommendations — and begin treatment — as soon as possible.
During your initial visits with the Newborn Metabolic Screening Program, we will discuss:
- Your child’s disease in more detail, including what to expect long term
- How certain treatments may slow the progression of your child's disease, such as diet changes, vitamin therapies and medications
- When more invasive and complex treatments — such as liver, stem cell and bone marrow transplants — may be needed
- Which treatments may reduce your child’s risk of experiencing lifelong complications from their disorder, such as developmental delays, cognitive disabilities, serious illnesses and life-threatening medical problems
- What to expect with each treatment, how to help your child avoid a medical crisis, and what to do (and who to call) if your child's health does deteriorate
- Possible genetic counseling for parents considering future pregnancies, available prenatal testing and recommended pre-implantation testing
It's important to note that children with inborn errors of metabolism cannot be cured. However, with prompt diagnosis, early treatment, and ongoing monitoring and support, these children can lead full and happy lives.