Courtney refers to herself as a hot potato patient, being passed from specialist to specialist in search of a diagnosis to her mystery illness, but none of these providers have been willing to keep digging until an answer is found. She used to be an avid globe trotter while working as a pharmacist, but when her illness kicked into high gear she became unable to pursue travel or maintain employment. Since then she has put as much energy as possible into solving her diagnostic puzzle, but an answer has remained elusive.
Courtney’s neurological symptoms started with facial spasms that eventually spread to her arm, shoulder and ribcage. These uncontrollable movements are accompanied by extreme fatigue, bouts of confusion and heart rate issues. Her doctors have found several troubling abnormalities in her testing including spinal lesions on her MRI, slightly elevated MS and lupus antibodies in her spinal fluid and elevated porphyrins in her urine. Frustratingly, none of these findings have clearly pointed to a diagnosis.
The deeper Courtney sojourns into this diagnostic morass, the more frustrated she becomes by infuriating contradictions. Her disability claim has been denied with the recommendation she return to work, but doctors agree she is not ready to be cleared for employment. She has tested with low copper and ceruloplasmin (a protein that binds to copper), and started supplementing copper to correct this. Then she learned these tests could be indicative of excess copper storing in her body (the main symptom of Wilson’s disease), and cannot get a clear answer if her copper is low or high. She has tested as a genetic carrier for Wilson’s disease and brittle cornea syndrome (a connective tissues disease related to EDS) but her doctors don’t agree if being a carrier could be causing symptoms. She has notes from so many doctors on her chart that new providers will often assume she is a problematic patient and be reluctant to add anything new.
In this episode of the Major Pain podcast, Courtney discusses her difficult diagnostic journey so far. She is deeply grateful to the friends and family who have stepped up to care for her when caring for herself became difficult. Her sister owns a campground on the Mississippi river in Savanna, Illinois that has been an invaluable haven from her medical trauma (learn more here). She hopes that sharing her story on this platform might crowdsource new diagnostic ideas to pursue. If you have ideas to share after listening to her journey, email Jesse at email@example.com.
In this episode we also check in with former guest Sydni Dupre to announce her new video podcast! Find her on YouTube at https://www.youtube.com/@SydniGDupre
RESEARCH OPPORTUNITIES: https://rarepatientvoice.com/MajorPainPodcast