Cost of Delayed Diagnosis in Rare Disease: A Health Economic Study

By Hilary Rosselot

Fragile X Syndrome Included in an Important Economic Impact Study

When did you receive your Fragile X diagnosis? How long did it take you to receive the correct diagnosis? Did someone in your family stop working or significantly reduce their hours to care for your child with Fragile X? In Fragile X, we know a delay in diagnosis not only cause delays in accessing supportive therapies and symptom treatment, but it may also increase the financial and emotional stress on the family. Accessing timely diagnoses allow families to reduce unnecessary medical costs, improve access to supportive, accurate care, and enable families to plan for the future. The time, money, and energy it takes to receive a diagnosis can be immeasurable, until now.

The National Fragile X Foundation is proud to be part of the Everylife Foundation’s newest report, The Cost of Delayed Diagnosis in Rare Disease: A Health Economic Study. This study used real-world data to evaluate healthcare usage in seven rare diseases and its relationship to timely diagnosis and the diagnostic odyssey as well as the potential for new therapies. This report not only digs into each community’s healthcare data but also provides future directions for policy and healthcare.

The time is now to develop policies to reduce time to diagnosis, and the EveryLife Foundation is championing that work.