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EDS test/diagnosis questions


katyroq
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I'm wondering how those of you who have EDS got a genetic test or diagnosis. Do you have to see a geneticist, or could a GP refer you for the proper testing?

My mom and 3 sisters and I all have various different and mostly mild EDS/hypermobility symptoms, and I have POTS.  I'm curious if we might have EDS in the family. From what I understand, there isn't much that can be done for EDS treatment, and those are not my worst symptoms so I'm not looking for a doctor per se.  Mostly I'm wondering if my POTS is likely to just "go away" or if it may be a lifelong issue due to EDS. 

 

 

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We saw a geneticist at first, but he never committed to anything, only a possibility.  After that we saw a neurologist at Stanford's Autonomic Clinic and he had no reservation about telling us that both girls have EDS type III.  From what I've seen in my own family, POTS will be a lifelong issue, as EDS is not going to go away.  Their POTS symptoms started in their teens and the EDS symptoms started, well, at birth.  It's just gotten a lot worse the last couple of years for both girls.  They are 19 and 21.  I hope this helps!

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EDS and Dysautonomia (POTS) run in our family.  

We do not have an expectation of being “cured”, although every time we master a new assistive tool or strategy to help us adapt to being more fully functional it is a cause for celebration. 

We also refuse to let it dampen our wacky spirits. 😊😜

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I diagnosed myself with EDS and POTS ahead of a rheumatologist and cardiologist confirmed later on. I'm guessing there isn't a genetic marker for EDS type III and so diagnosis is based on clinical signs and patient history. I asked my GP for referrals and she referred straight away.  The rheumatologist went through the whole of the Beighton Score and checked all of my joints and I gave her a full history of my life and health issues. I scored 7/9 hich is high for someone my age. She recommended physiotherapy which I wasn't able to do because the POTS hadn't been treated at that time. I only saw the rheumatologist once. I also have IBS, gastroparesis, scoliosis, mast cell/histamine issues and whole body neuropathic pain. 

My cardiologist says he doesn't get such good results with patients who also have EDS. I am currently taking Nebivolol. I was going to see an immunologist about mast cell issues/histamine intolerance, but I now have a pituitary tumour and that has put the kibosh on things. 

Obviously EDS is for life and POTS seems to go hand in hand with it. My sister has some symptoms of EDS and some autonomic dysfunction. Three generations of the family have IBS which seems to be the link. 

The only people I have spoken to that seem to improve have overhauled their diet and exercised, which means strong core work to help balance the autonomic nervous system. I am hoping yoga will help once my pituitary surgery is done and dusted. 

I wish you well. 

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I went to a world renowned geneticist for final confirmation diagnosis of EDS type III a year ago after being diagnosed with it by neurologist. I believe the EDS is the driving force for some of my other problems - POTS, gastroparesis, CRPS type 1, small fiber neuropathy, autoimmune autonomic neuropathy. All of these are common with EDS so it makes sense. It has kind of become a big glob of problems with overlapping boxes instead of distinct diseases. I don't always know which disease is causing which symptom because there is so much overlap. Hands down, the dysautonomia affects my quality of life the most profoundly since I'm about 95% bedridden at this point.

I had a maximum loading dose session of IVIg with five infusions last fall which helped amazingly well for a while. I'm now fighting insurance to pay for further treatment. Other than that I feel stem cell therapy in the future is my only hope. The current popular stem cell therapy where they use fat cells will not work IMO. They will need bone marrow stem cells that are more undifferentiated to regenerate nerve damage. 

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I was evaluated by Dr. Alan Spanos (https://alanspanosmd.com/).  He was very thorough.  Although I have some symptoms, it was found that I do not have EDS.  I am still looking for the "root cause" of my POTS.  I think it's good to have an evaluation by a trained specialist, that way you can confirm (or not) your condition.  There are some treatments that can be helpful for certain types of EDS and it may be helpful going forward in the future.

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