Hi everyone,
I don't have anything great to update. Seems that I have taken some steps back. I honestly thought about 2 months ago that I was getting better. My symptoms were mild and more manageable. My pain all over has flared back up and the enthesitis in my ligaments is just not quitting.
My rheumatologist wanted me to try celecoxib. I was hoping it would help at least with my foot and ankle problems but after two days it made my stomach sick and hurt so I stopped that. She is still at the point where she doesn't want to treat me for autoimmune disease despite the anti smooth muscle antibodies and the high ANA. She isn't sure that my neurologists diagnosis of Ehlers Danlos and autoimmunity is correct, so she'd rather watch and wait. I've been watching and waiting for 4 years.
As much as I like this rheumatologist because she doesn't want to "name" my cause for severe polyneuropathy with a specific syndrome, I am realizing that I am possibly in denial about having a genetic connective tissue disorder. The neuromuscular doctor told me that it is certain that I have hEDS especially due to my girls having similar symptoms. I realize that I cannot argue that something genetic is going on here. Our symptoms were all mild until what ever happened triggered "this" to spiral out of control. It is so frustrating to think that this won't heal. I had such improvement in the beginning of the summer that I thought the worst was behind me and that I didn't ever even have to know what happened or what went wrong. I was just so thankful. Now I am trying to figure out why I've taken a downturn and not be upset that I am having to take the pain meds more often. I was at the point that I was doing so well that two weeks went by and I only had to take diazepam once for a muscle spasm and half of an oxycodone after a night on my feet. I was ecstatic. Now I'm back to fighting pain and fighting the pain meds and its such a crappy cycle. Thanks for listening.

So sorry to hear about the setback. The down cycles are just so disheartening.

Has anyone done genetic testing on you and your girls to look for variants?

We had genome sequencing done by Ambry genetics and they couldn't find anything, but they speculate heritable connective tissue disorder. The neurologist at Columbia says we have hEDS for certain with autoimmunity on top of it. The rheumatologist however says that without elevated ESR or CRP, even with the high ANA and anti smooth muscle antibodies, she can't say for sure that autoimmunity is part of it, or that it is damaging that is already done. It is so frustrating. I am sure that some kind of toxic exposure (or at least something toxic to our predisposition) got to us.

I'm sorry about the setback and that you haven't found a good treatment.
I think that an immunological treatment might help although you don't have a specific autoimmune diagnosis.

I had once a positive borderline ANA results, and my CRP has always been negative (except when I had Lymphoma). But immunological treatment (Rituximab) is really helping me now with the POTS and SFN, so there is no doubt it is caused by some kind of autoimmune disorder.

It took me many years to find a doctor who was ready to listen to me, see the whole picture and not just look at the blood results. He agreed that based on my medical history to try immunological treatments.

Hi Healthgirl

Thanks for the update - I haven't been on here myself for a while having other issues to deal with.

Sorry to hear you're having a flare up at present. Stillhoping's suggestion to try an autoimmune treatment may help the rheumatologist distinguish if there is an autoimmune component.

Although you were only on brief trial of celecoxib (NSAID), which you were unable to tolerate, on a longer term it only have acted as an analgesic and not necessarily helped manage the autoimmune symptoms.

Have you previously had any trial of steroidal medication? eg prednisone or cortisone. A short trial that showed improvement while you are under severe symptoms might give a clearer indication of autoimmunity.

All the best for finding solutions.