Anyone have similar symptoms and having trouble getting diagnosed?

My boyfriend has been having issues since he was younger. In the past muscle cramps had been his main issue and since he was little he would get sick a lot. In the past few months things have gotten worse. He is extremely tired all the time, he has an awful memory, he can't concentrate very well and frequently has trouble holding a conversation without forgetting what he was saying, he has increasingly awful headaches, he has chest pain on and off and some times has trouble breathing, and he complains of overall achy pains and just not wanting to move. It is awful to see him like this and we need answers because at 22 he should not be this miserable. We have been to a neurologist with the possibility of MS/MD; a cardiologist and most recently a neuromuscular doctor. So far we have gotten no where. They found that his lactic acid was low so they want to do a muscle biopsy but other than that we are stuck. His cousin had the exact same issues as him when she was younger, all the way up to getting a muscle biopsy. She was eventually diagnosed with hughes syndrome and once treated she felt so much better. When mention to his doctor she said all of his clotting factors were fine and she doesn't think he has this. I may be crazy but all of his symptoms match and I am concerned she is just blowing us off and I think I need to be more persistent. I figured I would post something on here and get some feedback on if anyone else had similar symptoms and similar issues with being diagnosed? Any input would be so much appreciated!! Thank You!


8 Replies

  • Hello Kaity and welcome to our group.

    Where are you from? Let us know and we may be able to suggest where to seek help from.

    Best wishes.


  • Hi Dave! Thanks for responding. I live in Rochester, NY in the US.

  • Hi there lots of papers on the HSF you can down load also there is this., this is an organization which may be of benefit to you as well as being on here. Also some names on here. Also now you have said where you are located, you will find quite a few new friends on here who can probably help you in the USA, possibly even your own geographical area. All the best Mary F x

  • Just want to say Hi and welcome. I think Mary has covered it all so look forward to seeing you on here again. x

  • Hi and Welcome My symptoms are very similar to your boyfriends and it took some time to get diagnosed. With a suitable specialist it is possible get a heparin trial for a few weeks to find out if his condition responds to anticoagulation.This can then help with is possible to be sero negative and have the condition even though it doesn't show on the tests.Dr Khamashta is researching new types.of testing and they are finding that some of their sero negative patients get positive results with new tests. The group will help you find a suitable specialist. Glad he has such a caring girlfriend. Alltel best Ann

  • The other thing to remember is that autoimmune disorders have a lot of overlap in symptoms, so do make sure he's tested for other things too, for example, thyroid problems and coeliac, as many of these symptoms could be attributable to those. All the best in finding answers. Susie x

  • And Sjogrens too as that often comes with the trio of APS, Sjogrens and Thyroid Antibodies.

  • Hi everyone! Thank you all so much for your advice. Unfortunately his doctor blew him off saying his clotting was fine, except when I got a copy of all his results of all the blood work that he has had, she has not check one thing related to clotting except platelets. He is going back tomorrow with the name of the two tests for APS and if she says no he is asking for a referral to a specialist because the least they could do is rule it out :/ the other night after walking up the stairs he was breathing so heavy and instead of his heart racing like he was out of shape, it was beating slow and hard, it looked like it was going to jump out of his chest and get looked at me and said he felt like he was going to die :/ after a few minutes the feeling went away but each day it's worse and scarier and I refuse to leave any stone unturned and I'm not giving up on at least ruling this out when he has family members who are diagnosed and currently on Coumadin. Thank you all for your help and support, because sometimes I feel like all the doctors blow us off.


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