Several years ago I was diagnosed with neuropathy – although the doctor was not sure what kind at that time. So off I went to see my first few specialists – Neuro-muscular and neurology. The neuro-muscular doctor was pretty confident it was small fiber neuropathy with autonomic involvement and Raynaud’s and he ordered a skin biopsy to confirm SFN. Low and behold it was not only positive, it was severe and progressive. I was started on several medications and sent on my way.
Evolving symptoms and some bright shiny new ones led my Primary doctor to send me to Rheumatology. Gallons of bloodwork, a change of doctors, and a lip biopsy later, I was diagnosed with Sjogren’s syndrome and sent to see an Immunologist due to odd findings with some of my bloodwork. After more fun filled tests, I was diagnosed with Common Variable Immunodeficiency! Within 3 years I had “collected” a team of 8 different doctors and 5 conditions that have no cure.
Then my Rheumatologist grew concerned with the level of pain and stiffness I was having daily. Lo and behold I got to add Rheumatoid Arthritis to the list. All of these conditions require regular visits to even more doctors to monitor side effects of medications and to help ease/treat symptoms.
After a year of tweaking my meds, therapies, and reading/watching everything I could about my plethora of conditions; I was in a semi decent place. My cocktail of medications was doing a pretty decent job at keeping me moving, working , and living my life. However, I knew there was still something “not right” and so I continued reading books, medical journals, and articles, and watching lectures and talking to people who had some of these conditions. I wanted ALL the knowledge so that I could advocate for myself, understand what the doctors were doing, and figure out what was going on with me. It was a lecture on YouTube that gave me the missing piece of the puzzle.
Last week I saw my Rheumatologist and told him that I had been watching a lecture and panel on RA and the woman they spoke with said that she was in her 50s (like me) and that she had just been diagnosed with hEDS (hypermobile Ehlers Danlos syndrome). She spoke about how she had symptoms practically her whole life and no one had ever figured it out. Her childhood sounded just like mine! So my Rheumy (He is wonderful and treats me like an intelligent team member instead of a dumb patient) said he would do some tests. I got a 9 out of 9 on the Beighton score (at the age of 54!) and he took a full history asking me lots of questions about my childhood and family.
So I currently know I am hypermobile and he is thinking it is hEDS or HSD. There are many types of EDS and hypermobile disorders, so for now we are trying to figure that out. Read more about hypermobility here. So off to Occupational and Physical therapy I go to see if we can reduce pain by learning how to use my joints and to strengthen the muscles to help support my body now that we know my connective tissue is not working correctly. I am hoping that some of the pain we were attributing to RA, may in fact be the hypermobility. If that is the case I may be able to cut back on some of my meds, at least for awhile.
While collecting Doctors and diseases is not nearly as much fun as collecting stamps or shiny rocks…I do feel relieved that I am slowly but surely getting answers. I feel validated that it is not “all in my head” and that I am not lazy or whimpy. I feel as though I have an amazing team of doctors (12 now!) and I am hoping that we can keep the worst of things at bay for as long as possible.
