Rare and yet-to-be-described diseases present many challenges for patients, families and physicians. Some patients seen at Rady Children's Hospital-San Diego and elsewhere wait years for a diagnosis due to medical complexity or symptoms that cannot be explained by standard medical knowledge. In some cases, a diagnosis never comes.
Frequently these patients have undergone expensive and painful diagnostic procedures, yet families are still left without an answer.
At the Undiagnosed Disease Center, our multidisciplinary team of specialists from Rady Children’s and the University of California, San Diego School of Medicine seeks to provide a diagnosis and improve treatment for these children. To do this, we collaborate with leading basic science researchers and use cutting-edge technologies, such as genome sequencing. Read how DNA sequencing led to lifesaving treatment for a child with a rare form of epilepsy.
For your child to be accepted into our program, a referral from a healthcare provider is required. The referral should include:
- A summary of the case and all relevant medical records
- Imaging studies
- Biopsy specimens
If your child is accepted into the program, he or she will be evaluated at Rady Children’s. Following the evaluation, our team will update the referring physician and patient/family regarding planned study investigations. Based on the data from these studies, our team will seek to identify the disease and develop a personalized treatment approach.
For more information about our Center and specialists, visit the UC San Diego Neurosciences website.
- For more information, contact Karin Fuentes-Fajardo at 858-822-3786.