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.

Author Hilary Rosselot

Hilary Rosselot
Hilary joined the NFXF team in 2019. Prior to joining the NFXF team, she worked at the Cincinnati Fragile X Research and Treatment Center for over five years. She has experience as a clinical research coordinator across many types of clinical trials and served as the clinical research manager for the Cincinnati program. She earned a bachelor’s degree in psychology, a master’s, and is a SOCRA certified clinical research professional (CCRP). She enjoys time with family and friends, a great book, a strong cup of coffee and, of course, a good laugh!

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