Tell Me More: Why is Obtaining a Diagnosis Challenging?

We invite you to our next UDNF Tell Me More Lecture Series on Thursday, July 11th  at 12:00 p..m. ET for Why is Obtaining a Diagnosis Challenging? – Navigating the Uncharted Waters of an Ultra Rare Disease.

Are you an undiagnosed patient who has been on a long diagnostic odyssey? Come join us for a discussion of the various types of testing used to obtain a diagnosis and their limitations. The complexity of attaining a diagnosis will be explored. Tips to help shorten the diagnostic odyssey will be presented. Lastly, strategies to remain hopeful while living undiagnosed will be shared.

About the Speakers:

Nikki Patrick lives in the suburbs of Chicago with her husband, Josh, and 3 children, Grace, Brendan, and Meredith. Nikki became involved in the world of rare and undiagnosed diseases after the birth of her 4th child, Felicity. Felicity battled a relentless disease during her short 21 months before she passed away in December 2020. Nikki is passionate about coming alongside to support families in getting their needs met to better serve their children. Nikki continues to seek a diagnosis for Felicity while also coming alongside families like hers to help them navigate the process. Nikki has successfully seen 2 children to ultra rare diagnosis, and has helped many other families understand the process better. Nikki holds on yo hope that one day she will have an answer for Felicity both for her own peace and for the future “Felicity’s” to come. It is her hope that no parent or family feel as alone as she did during Felicity’s life. 

Devin Oglesbee is an Associate Professor in the Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology and in the Department of Medical Genetics at the Mayo Clinic, USA. He supported the Undiagnosed Diseases Network by co-directing the Phase II Metabolomics Core with his colleague, Dr. Ian Lanza. Dr. Oglesbee’s research is centered on translational applications for the laboratory diagnosis of inborn errors of metabolism and rare genetic disorders. His particular areas of interest include developing novel clinical assays, characterizing new biomarkers; and developing methodologies for improving and expanding newborn screening.

Nicole Walley is a clinical research coordinator in the Department of Pediatrics, Division of Medical Genetics, at Duke University. She received her MS in biology at Duke University and is also a trained phlebotomist. Nicole coordinates patient visits and lab work for the UDN at Duke.

We hope you’ll join us on July 11th!

How to Register:

Registration for the event is free and open to everyone. To register, please visit the UDNF Registration Page. 

All the best,

Sarah Marshall
Patient and Community Engagement
Undiagnosed Disease Network Foundation