Ignored for a Decade: A Rare Disease Journey from Misdiagnosis to Advocacy
Mary
State: Illinois
Congressional District:
Diseases
Blood Disease, Bone / Muscle Disease, Cancer, Chronic Pain, Gastrointestinal Disease, Immune Disease, Lung Disease, Migraine, Rare Disease
Issues and Challenges
Mary has encountered: Access to Expert Providers, Access to Medicine, Rare / Underserved Disease, Caregiving, Disability, Invisible Illness, Job Insecurity / Loss, Step-Therapy / Fail First
My Story
In my early 20s, I began experiencing joint pain, severe GI issues, unusual allergic reactions, unexplained fevers, and other symptoms, all of which were disregarded by my providers as unconnected, lifestyle-related, or simply anxiety.
At age 26, the pain forced me to leave my career in the fine dining world, as I could no longer work on my feet. I changed careers and was able to find success in other industries. By age 34, nearing the peak of my career, I was absolutely thriving when my health started falling apart again. I was having months-long spells of vertigo, extreme migraines, debilitating GI issues, rashes, and joint pain. Despite a family history of autoimmune disease, my health care providers continued to ignore my symptoms. With no clear diagnosis or treatment plan, I spent tens of thousands of dollars on movement specialists, dieticians, and physical therapy.
At age 37, I found myself in the hospital for 10 days with gangrene in both hands, swelling, blood clots, and unmanageable pain. It took several more years, several rheumatologists, and a change of hospitals before I received a definitive diagnosis.
I’m now 47 years old, living with scleroderma, myositis, interstitial lung disease, and essential thrombocytosis, a rare, chronic blood cancer.
I was well aware of scleroderma and other autoimmune conditions because I had several family members who had them. I was my mother’s primary caregiver at the end of her life. My experience and firsthand knowledge didn’t spare me a challenging path of treatment. Step-up therapies, long wait times, lack of communication between specialists, insurance formulary changes, and providers without scleroderma knowledge have been hurdles to getting the care I need.
My goal is to advocate for others because awareness is crucial to improving diagnosis, improving treatment, and improving outcomes for rare disease patients.
My Motivation and Inspiration
I am inspired by my fellow advocates and our collective mission to improve care for all patients by raising our voices and sharing our stories.
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