Diagnostic Odyssey’s Mission
Our mission is to generate awareness about the benefits of increasing the number of diseases included in newborn screening and to create demand for expanding newborn screening to include lysosomal diseases in every state.
The Process: Participant’s steps to complete the project
There are five steps to complete the project:
- Fill out the Patient Consent Form. If you are a Guardian or Medical provider, you will provide consent for the patient.
- Fill out the Patient Information Form. This should take less than five minutes.
- Upload your diagnostic information files and reports. You may have to take some time to find or request these forms. You can log out of this site and log back in at a later time when you are ready to upload these files.
- Request your diagnostic review. Once you are confident that you have completed these first three steps, request a diagnostic review. Your files will be reviewed by an medical expert specializing in lysosomal diseases. Once you request a review, you will review a confirmation notice with an estimated timeframe within which to expect a review.
Use our contact form if you have any questions during the project.
Resources and Advocacy Groups
This list of resources is not comprehensive.
NIH Rare Disease Guides
National Organization for Rare Disorders (NORD)
Lysosomal Disease Network (LDN)
Rare Diseases Clinical Research Network (RDCRN)
List of Patient Advocacy Groups