Undiagnosed Disease Program
The Undiagnosed Disease Program (UDP) at CHOP offers personalized care for families who are struggling to pinpoint the cause of their child’s symptoms. The UDP harnesses the knowledge of clinical and research experts from across CHOP plus the power of comprehensive genetic analysis and other advanced diagnostic tools to improve diagnosis and treatment of undiagnosed diseases.
If your child is still undiagnosed after seeing multiple experts and you have a long list of inconclusive or negative test results, we can help. The UDP was built to provide families the medical guidance they need after they’ve exhausted other diagnostic options.
Our multidisciplinary team will review your child’s past test results and utilize specialized diagnostic tools to help understand your child’s condition. We’ll then connect your family with a clinical expert who will be able to map the best path forward for management and treatment.
Before contacting the UDP, review our checklist to make sure you’ve already taken all the necessary steps.
At Chelsea’s 6-month check-up, when her mother, Laura, voiced her concerns, their local pediatrician agreed something was amiss and sent her for an immediate abdominal ultrasound. It came back negative for kidney or liver tumors, the two most frequent tumors found in children with BWSp. “That was a big relief,” says Chelsea’s mother, Laura. “But we still didn’t have a diagnosis.”
Finding a Diagnosis
We understand that it can sometimes be a long journey to find your child’s diagnosis. In the UDP, we can help shorten the diagnostic odyssey, build a plan and find your child a medical home.
Programs & Services
You may already have a diagnosis but are looking for a second opinion or to connect with a specific department. We’ve compiled some helpful links for you:
Learning More About the UDP
Whether it’s about the value of genetic testing, how we work with the National Institutes of Health (NIH), or the research being done in our department, there’s so much to share about CHOP’s Undiagnosed Disease Program.
Groundbreaking programs like the UDP are made possible by generous financial donors. We need your ongoing support to continue to solve medical mysteries and provide answers for families struggling with diagnostic odysseys.