Disclaimer: I am not a doctor, geneticist, etc. This is my personal experience iwth getting an official geneticist diagnosis for ehlers danlos syndrome without chronic pain.
A while back I shared a blog post about my diagnosis process with ehlers danlos syndrome. It seems to me that more and more people are learning about and getting diagnosed with ehlers danlos syndrome. I have no idea of that is statistically true, it just seems like I am hearing about it more and more. Perhaps I am just now noticing it due to my diagnosis.
Anyway, I thought I would share my experience with a common question. Can you have ehlers danlos syndrome without having chronic pain? Or even can you have EDS without pain at all?
The answer for me seems to be yes. As I shared in my diagnosis process blog post, I primarily sought out a diagnosis because I was needing to see a geneticist anyway. In my case it was to get tested for genetic forms of epilepsy. I had known for years that my half-sister and her daughter (my niece) had been diagnosed with EDS. I also knew that some of the symptoms for ehlers danlos syndrom involved being “double jointed” and having stretchy skin. I had those symptoms. So I thought if I was going out of my way to see a geneticist I may as well see about an EDS diagnosis while there. So I did.
I have never had chronic pain, or any unusual pain at all, really. I explained this to the geneticist. He had me do a physical test (the beighton scale – below)
Credit belongs to www.ehlers-danlos.org.
Based on this scale I got 6/9 points. Then you combine that test with the brighton scale, below.
I got 1 major point for being over 4/9. I did not have arthralgia (pain in a joint) for over 3 months so I did not qualify as having 2 major points. However you can still get diagnosed with EDS if you have 1 major point and 2 minor points. Or 4 minor points. I had 1 major point so to finish diagnosis I needed 2 minor points. I got mine from having hyperetensible skin. I am also nearsighted but my prescription is only -2.5 so I don’t think that counted. Seems how my sister has an official diagnosis from a geneticist that counted as an unequivocally affected first degree relative. For the skin test he pulled my skin away from my forearm about 2 inches from my wrist. In that area my skin pulls out a little more than 1 inch.
I was first diagnosed about two years ago. I’m now 25 and still have no chronic pain. At the time of diagnosis I wasn’t experiencing any dislocations either. I still haven’t had any dislocations but my legs “pop” in an uncomfortable way pretty regularly. I do not have to apply pressure to get it to pop or snap and feel comfortable again, it just does it on its own while I walk so I don’t think it is a subluxation but I’m not sure. It happens at least a few times a a week and sometimes it feels like a release of pressure when it pops, while other times it feels like it pops and then that causes discomfort or pressure. It’s nowhere near what I would consider painful, though. It just feels “off” more than anything else.
When I was diagnosed the geneticist told me that this office does not diagnosed benign joint hypermobility syndrome anymore. He said that people who would have been diagnosed with BJHS in the past are now diagnosed as EDS. He said I would have been the perfect candidate for BJHS when it existed. I’m a little confused because he acted like the diagnosis is obsolete. However I have seen others online say they have been diagnosed as BJHS since I was diagnosed as EDS. So I’m not sure if it’s truly obsolete and some doctors have continued to diagnose it anyway, or if it was just my specific geneticist who has stopped using that label? It’s odd.
He also mentioned that most people who seek out an EDS diagnosis do so because they are in severe pain. His guess was that more people like me (EDS without pain) exist but simply don’t have the desire to seek out a diagnosis because they don’t really need care or treatment. I thought that made a lot of sense.
My half-sister still doesn’t have chronic pain, just normal aches and pains for a woman in her late 40s. Her daughter is only 26 yet she has chronic back pain and is trying ot get disability because it’s so difficult for her to work when she has to stand all day. My father is 71 and while he hasn’t been diagnosed I assume he has EDS because he is the only parent joining my sister and I. He has normal aches and pains for a senior citizen but doesn’t have chronic pain. He is still active with his yard and home at 71.
If you have an EDS diagnosis and don’t have pain please leave a comment sharing your experience. I visit some EDS forums and haven’t found others with an official geneticist diagnosis for EDS who are pain free but I know we exist, though perhaps not very commonly.