I’m as “normal” as anyone else. I look completely “normal” (besides being in an orthopedic brace), I act completely “normal,” and my life is completely “normal”. I have been married for 40 years and have two adult children and three grandchildren. I have worked with my husband in his private optometry practice for 20 years and help with the daily care of our 11-year-old grandson. My life is full, happy, active and busy – as “normal” as I may assume some of yours are.
However, I am far from “normal”. I have a rare disease that spontaneously and randomly tears my tendons and cartilage. So rare that few doctors have even heard of it, even fewer have ever seen or treated it and no one else has it. This was, as you can imagine, impossible to believe. 18 years later I still have a hard time wrapping my head around it. It took six years, five doctors, three top ranked rare disease specialists across the United States and 14 orthopedic surgeries before I was correctly diagnosed with what is now called “an orphan of a rare HLA B27 autoimmune disease”.
With no doctors having any experience with this disease and no FDA approved treatments, it was predicted that the damage to my tendons and joints would be so severe that I would be in a wheelchair in my 50s. After the shock and disbelief wore off, when it was clear this wasn’t some horrible nightmare, I got busy. At first, it was hard getting doctors to believe that I have some rare disease they’ve never heard of, but I found a team of doctors willing to think outside the box. I began a lifelong treatment of a chemotherapy drug, a biologic drug and other disease modifying drugs to try to slow the progression and lessen the severity of this disease. And six years ago, I began stem cell procedures to try to help repair my torn tendons. My medications and treatments are considered experimental – they are not FDA approved and not covered by insurance. I cannot tell you how many times I’ve heard from my doctors, “I’ve never seen this before, I’ve never tried this before, I have no idea if this well even help you.” I shrug my shoulders, smile and say, “Me neither, but I have no other options, and if you are willing to jump on this crazy train with me, I’m willing to do everything and anything I can do to get better!”
My disease is incurable, and it will continue to damage my tendons, soft tissue and cartilage. I live on chemotherapy drugs that make me sick and inject myself with a biologic drug. I will continue to be medically monitored for the rest of my life and I will continue to live in my doctor’s office and in physical therapy. I am determined to live the best life I can, despite living in a body that tears me apart.
I’m just a “normal” person that suddenly found myself in a rare world I knew nothing about. A scary, lonely, painful, frustrating unbelievable world, and there isn’t a thing I can do to prevent or change it. I have no control over my disease, but I do have control over how I choose to live with it. I could have easily accepted the grim prognosis, thrown up my arms in defeat and laid on my couch feeling sorry for myself waiting for the wheelchair to come, but that would be worse than the disease itself!
I hope that my story can help someone else find their strength, their courage, their defiance to stand up and demand of themselves and their medical team better. Never give up, never settle, never surrender to the disease, never allow it to take you out of your life!
The National Organization for Rare Disorders (NORD) is committed to telling the stories of patients and families with rare or undiagnosed diseases and helping them live their best rare lives. If you would like to share your story, contact NORD here.