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What is the Diagnostic Odyssey?

The Diagnostic Odyssey is the sometimes long and treacherous journey patients with undiagnosed conditions must endure. This journey can sometimes take years, and involve a wide range of doctors, tests, anxiety, and lost treatment time. This site, and our study, endeavors to collect these journeys, quantify the diagnostic timeframes, and use this data to create awareness about and demand for expanded newborn screening in every state for every disease. If you have been diagnosed with a lysosomal disease, join us. You can help shorten the diagnostic journey for other patients and be a part of this important campaign.

Why is there a need?

Every newborn in the U.S. is screened for at least 29 disorders, where evidence suggests that early detection is possible and beneficial. With new or improved treatment options and development of high-throughput screening tests, additional conditions have been proposed for inclusion in newborn screening programs. Collectively, lysosomal diseases occur in about 1/5000 births, which is more frequent than some conditions already included in newborn screening. Misdiagnosis or delayed diagnosis can have devastating consequences, because efficacy of many available lysosomal disease treatments relies on early diagnosis. The arguments for lysosomal disease inclusion in newborn screening programs center around the advantage of early treatment (when treatment is available), avoiding a diagnostic odyssey for families and providing information for family planning to couples who have an affected child.

Who should participate?

If you have been diagnosed with a lysosomal disease, we invite you to participate.

What are the benefits of participating?

Newborn screening is not mandated at the federal level. Instead, each state determines which disorders will be screened and which screening tool will be used; these decisions seem to be based largely on the economic cost of screening and treating identified disorders, because these variables have an impact on local economies. By participating in this Diagnostic Odyssey project, you can help define the financial and personal costs associated with delayed detection and diagnosis. By presenting the overwhelming financial, physical, and emotional benefits for newborn screening, we create a way forward to screen for more diseases in more states faster. By participating in this study, you could help improve the lives of thousands of patients worldwide.

What is the timeline?

The Diagnostic Odyssey project will begin collecting data soon. So, stay tuned!