When Ashley scheduled an interview for the Major Pain podcast to discuss her chronic illness, she was prepared to talk about living with an undiagnosed disease. But to her shock, just weeks before recording her interview, a rheumatologist officially confirmed a diagnosis. Ashley found herself looking back on her life and seeing the disparate pieces of her journey link together. From being a child in the dentists office screaming that her local anesthetic wasn’t working, to high school when her jaw constantly dislocated, to needing surgery at 20 to tighten the ligaments of her shoulder, her genetic condition had been making itself known her entire life. Doctors had constantly ignored or brushed off the signs, leaving Ashley to gaslight herself into thinking everything was fine. Once her condition progressed past the point of denial, she took it upon herself to uncover answers. She eventually ordered genetic testing from a company online that pinpointed a defect. She took these results to a rheumatologist that confirmed what Ashley had begun to suspect, and she was diagnosed with classic type 1 Ehlers-Danlos syndrome (cEDS).
In this episode of the Major Pain podcast, Ashley speaks her diagnosis out loud for the first time. She discusses the monumental re-contextualization of finally finding answers, having barely begun the process of integrating this information into her life. Her condition, cEDS, is a connective tissue disorder that affects her entire body. This genetic defect results in her body not coding for connective tissue properly, causing wide ranging symptoms including chronic pain, hypermobility and exhaustion. This also affects her vision, which is far from the normal 20/20 at 20/1200. She also lives with a rare form of adrenergic POTS (postural orthostatic tachycardia syndrome), meaning her heart jumps to extreme rates with minimal activity. Since cEDS is genetic there is currently no cure or treatment, but there are methods of management that can be beneficial. Ashley is now beginning the process of learning the best ways to live with her disease, including purchasing her first cane. Although the prospect of living with an incurable disease is daunting, the ability to finally identify her mysterious ailment is deeply comforting.
RESEARCH OPPORTUNITIES: https://rarepatientvoice.com/MajorPainPodcast/