For some time, I have been trying to determine the cause of my loose joints, which I experience now in my knees, wrists, and ankles. The ankle surgeon told me that my issues were unrelated to my rheumatoid arthritis, meaning that something else was wrong.
As I began looking into it, I realized that many of my symptoms could be caused by a rare disease called Ehlers-Danlos Syndrome. This would explain my loose joints, stretched out ligaments, and other issues. In fact, the disease is linked to migraines and even autism.
In particular, the hypermobile subtype, hEDS, fits my situation and explains a lot.
While looking at the diagnostic criteria, I saw that my rheumatoid arthritis diagnosis prevented my joint pain from counting towards the hEDS diagnosis. As I thought about the unfairness of having both rheumatoid arthritis and hEDS, I realized something.
My rheumatologist had previously said that based on her observation of my joints, she would expect me to be in far less pain than I was. As it was, I have tried and failed five different immunosuppressants for rheumatoid arthritis. My joint swelling has never been noticeable, but the pain has been significant.
I remembered that I was diagnosed with rheumatoid arthritis based on my symptoms, rather than a positive blood test. This is not unusual. Approximately 30% of people with rheumatoid arthritis do not have a positive blood test for that disease.
However, with my complaints of loose joints and pain that was not helped by the immunosuppressants, I began to doubt the rheumatoid arthritis diagnosis. I discussed this with my rheumatologist, who agreed that my symptoms would be better explained by hypermobile Ehlers-Danlos Syndrome.
After a few last blood tests, my diagnosis of rheumatoid arthritis was removed. After 18 years of thinking I have rheumatoid arthritis, and 18 years being immunocompromised, that’s it. I am done with rheumatology, because RA is not my issue.
With the diagnosis of rheumatoid arthritis removed, I now meet the diagnostic criteria for Ehlers-Danlos Syndrome. The hypermobility subtype is likely, and I have been diagnosed with hyperlaxity of my ligaments. However, given that rheumatoid arthritis was more likely than hypermobile Ehlers-Danlos Syndrome, but still wrong, I do not want to leave this to probability. I am awaiting a genetic test to rule out other types of Ehlers-Danlos Syndrome.
Losing my diagnosis of rheumatoid arthritis is a huge identity shift for me, as is losing the identity of being someone who is immunocompromised.
In the time since this diagnosis has been removed, I have found myself explaining that I cannot do something several times. Why? Because my joints are hurting since I have rheumatoid arthritis. Wait, no I don’t. I have a rare disease, and it has no cure.
Perhaps surprisingly, I find this a huge relief. I now understand why my rheumatoid arthritis medications never worked. I understand why my body didn’t respond as expected. It’s because my body is affected by a different disease.
While there is no cure for hEDS, I am still relieved. I can stop searching and wondering. I know things will not improve significantly, so I have bought forearm crutches and various ergonomic aids.
I have connected with a few groups of people with this disease, and it has been incredible how many things we have in common. Perhaps one of the most common statements we make is, “That isn’t normal?!”
I knew I was hypermobile, but I didn’t realize that fingers weren’t supposed to bend back the way mine bend back. I didn’t realize quite how unusual the way I sit is. I was shocked when my extremely flexible daughter was unable to sit with her legs stacked, which is my usual mode of sitting.
Two ligaments in my ankle were tightened in November, and an internal brace was added due to how stretched out the ligaments were. I recently saw a hand and wrist specialist, also in Salt Lake City, in hopes that he would be able to do something similar for my wrist. This wrist has not worked in about 20 years, and the idea of being able to use it again was exciting.
Unfortunately, the hand and wrist specialist explained that the wrist is so much more complicated than the ankle that is a similar surgery does not yet exist. Any attempts he might make would be far more likely to cause harm than to do good.
Fortunately, the 9-hour drive was not for nothing. Not only was I able to get information from a true expert in the field, but he also asked his specialists in hand and wrist therapy to see me immediately. They made a custom brace for my wrist and gave me some exercises designed to help strengthen the muscles around the wrist. I have tried hand therapy before, but I have much more hope that the therapy from this specialist center will be better.
Here’s hoping for continuing to get more clarity about my situation, even if the news isn’t great.