A 26-Year Journey To Reach A Complex Rare Disease Diagnosis

Picture this: It's a sunny Saturday, and you're cheering on your 5-year-old at her soccer game. The day couldn't be more perfect until, suddenly, you witness her collapsing on the field due to a knee dislocation.

This heart-wrenching moment marked the beginning of Haley Quinn's journey into the realm of rare diseases. At that time, Haley and her family resided in Russia, embarking on a relentless quest for answers. They sought help from numerous doctors and specialists, enduring countless X-rays, MRI scans, and surgeries in an attempt to resolve her recurring joint dislocation woes. The medical response was disheartening, with physicians often saying, We can try this, but there's no guarantee it will work, or We've exhausted all options; there's nothing more we can do.

These words were far from satisfactory for Haley and her family. It would take another 21 years, multiple surgeries, and an astounding number of dislocations (thousands in the same leg) to finally receive multiple diagnoses and a comprehensive treatment plan for symptom management. While Haley grappled with three rare diseases, including Ehlers-Danlos syndrome (EDS), Charcot-Marie-Tooth disease (CMT), and Gastroparesis, her advocacy and focus remain dedicated to EDS.

Haley Quinn, Director of Product Success for Citeline Connect, has dedicated her career to building communities and support systems for people like herself diagnosed with rare diseases. In this very personal account, Haley shares her own medical journey and how it both impassions her and impacts her work on a day-to-day basis in her role at Citeline.