Discussions By Condition: I cannot get a diagnosis.

years of symptoms now my daughter has them

Posted In: I cannot get a diagnosis. 12 Replies
  • Posted By: loraine10
  • May 20, 2009
  • 07:07 AM

I'll try to be brief. Me - 50yr female with 18 yr old daughter. When she was 1 I developed 3 DVTs in 3 deep veins in left leg, extreme shortness of breath. Hospitalized for 3 weeks - Heparin drip followed by 6 months on coumadin. Slowly developed the following symptoms: episodes of chest pain and down left arm, confusion, memory loss, blurred vision, low BP. All cardio tests were okay but then Docs put me on treadmill - collapsed with 138 pulse. HR/BP sudden drop, incoherant. Given atropine and taken for cardiac cath - nothing showed. Symptoms continued with occasions also of sudden fast HR (180) during rest and other symptoms. Failed TTT with drop in HR/BP. Daughter developed symptoms - first showed up when she was about 10 and swimming competively. Got more frequent around age 15 to complete collapse and same symptoms as me. She failed TTT - HR/BP drop. Symtoms are always there at some level along with fatigue. Family history: grandfather with "thick blood" (blood taken regularly as treatment), mother with autoimmune disease (sojgrens), dad with MS. Only diagnosis we get is NCS but we never faint except on TTT - wondering if it could be Hughes (APS) or other blood disorder. Any input would be great....I would love you if you could point us in the right direction!

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12 Replies:

  • I have no idea what could be wrong, but if I were in your shoes I would find a geneticist. Sometimes it takes the right kind of expert to put the pieces together.
    halal37 96 Replies Flag this Response
  • Thanks...I feel it is genetic. Electrophysiologist has told my daughter no more swimming, which we stopped already because it was scary what happened to her (and me on treadmill) - our symptoms are identical when we exercise and the docs are amazed at how extreme the symptoms are, however I don't buy the NCS diagnosis because we always have symptoms in varying degrees which are triggered by any sort of stress on the body. Thanks for your input...I will look into that.
    loraine10 5 Replies Flag this Response
  • Sorry, but I don't know what NCS is-- I thought those letters stood for Nerve Conduction Study (a treatment/analysis-test, not a diagnosis). Could you fill me in? I am not a doctor; I'm a MMT with a medical background (went to several years of med school) and have worked with various doctors. The only symptoms I see you list that would indicate Hughes are the DVT's......but I would think more symptoms would be required for diagnosis. Have they ever suggested POTS (postural orthostatic tachycardia syndrome)? Normally one would feel light-headed upon standing from a sitting or lying down position (even fainting sometimes).......but the failed Tilt Table test is indicative also. You might also look into Dysautonomia, another positive tilt table test indication.You might also want to check out Long QT Syndrome. It can be genetic, and usually happens with exercise like you mention. With your family history, I understand why you would be suspecting auto-immune involvement (Hughes).......a simple blood test can rule this in or out just to be sure. I would also look into Thrombophilia because of your DVT's and your Grandfather's 'thick blood'. I'm sorry, I suppose I haven't really given you any answers. But please check into the disorders I have mentioned....they may lead you to a diagnosis or at least help you understand some things. All my best to both you and your daughter. I do hope you find some answers.
    Harmonium 322 Replies Flag this Response
  • Hi Harmonium. Thank you for you excellent reply. So many of the things you brought up are things I have looked into. My problem is getting a doc who puts the pieces together. NCS stands for Neurocardiogenic Syncope - fainting. I don't faint but it seems that since I failed the TTT I got stuck with that diagnosis. As for Hughes - I got the DVTs early in my second pregnancy and since my condition was so severe it was decided to terminate the pregnancy. I got pregnant 1 year later and was instructed to self inject heparin daily. I miscarried at about 13weeks. Decided to not try to get pregnant again. 12 years later and due to all the symptoms mentioned I was sent to every kind of doctor. As with Hughes my blood work showed a false positive for syphilis which after specific test showed neg., IgG antibodies and I have always had minor migraines with zigzag shiny lights. The docs were totally baffled by my blood tests and as soon as I collapsed and got the NCS diagnosis everyone of them dropped all further evaluation. I was so ill and mentally out of it that I just went along with it. Until later when the symptoms lightened and especially when my daughter showed similar symtoms. I researched and found out about Hughes and compared it to my symptoms! The pots thing came up also, but the doc said it was rare and dropped it. I just can't seem to find a doctor who can put it all together. I am thinking I should ask my GP to test for Hughes and at least rule that one out. I am tired and have been trying to figure this out for so long. My medical care has been poor. Thank you for your input. I was wondering if Pots like symptoms are similar to Hughes?
    loraine10 5 Replies Flag this Response
  • Harmonium - PS My GP, who I consider more with it than a lot of doctors I have seen, has never even heard of POTS! I had to explain to him what it was!
    loraine10 5 Replies Flag this Response
  • Harmonium - PS My GP, who I consider more with it than a lot of doctors I have seen, has never even heard of POTS! I had to explain to him what it was!This is the only post (reply) from you that I can see right now (if you made another, it sometimes takes a while to post it I don't know why). It's a PS, so I'm thinking I'm missing something here......I'm glad you got to 'inform' your doc about something-- rare when that happens! :) It's funny, around here many people say their docs miss a POTS diagnosis.....but I was taught about the condition in massage school; I would think med school would be much more stringent, lol. I suppose they learn quite a bit (I did do a couple of years there)-- some things get lost in the shuffle. Did he say that's what he thinks is going on? But it still doesn't explain the DVT.......maybe two separate issues. Not everything is connected, although sometimes it seems that way. Look into the Vagus nerve (google it) if you are interested. Lots of fun info concerning POTS and how the vagus nerve functions. I really think it could help you and your daughter. I'm a firm believer that the more we know how our own bodies function, the better. I'm glad you are getting somewhere! :D Best wishes to you both!
    Harmonium 322 Replies Flag this Response
  • Harmonie - Yes, I did post something prior. Regarding other symptoms which would indicate a possible Hughes diagnosis. I go back and forth in thinking some of these things are related and then thinking they are not. I read more about LQT and it fits, except we were both given event monitors and there were abnormal beats, but nothing that would indicate LQT. I did read that is possible to not have it show up. I can tell that the docs are confused (they don't like to admit it). The only diagnosis I got was "Extreme Exercise Induced Neurocardiogenic Syncope - something not written up in the books". They tried me on 2 BB's but it made it worse. My daughter was told "no more swimming". On her TTT her HR went to 140 in 10 minutes of tilt (from a 55) then her BP suddenly dropped from 110/70 to 53/38 and her HR dropped to 60 immediately after. She was messed up for about a month from that. My experience was similar. They used the drugs during my TTT however.My BP went to 60/undetectable and HR to 50. We never feel good - Some days better, some really bad. I am hypothyroid also - on meds. I know with Hughes there is usually another autoimmune issue so that fits. Other Hughes things - pregnant when I got the DVT - could not carry to term due to how bad off I was, then miscarried 1 year later, blood work a few years ago showed IgG antibodies present and VDRL test showed a false positive - that was mentioned in the message that is delayed. Hope I don't bore you....it is great talking to someone who understands this! You are a smart one! ;)
    loraine10 5 Replies Flag this Response
  • RUN, don't walk, to a geneticist! I think your family has a blood coagulation disorder, also called coagulopathy. Something called Factor V Leiden comes to mind, but there are other possibilities.
    aquila 1263 Replies Flag this Response
  • Thanks Aquila! When I look over my history that is what I think also. I was tested for the Factor V Leiden and the other usual clotting disorders. But the Syncope diagnosis leads the docs to not go further. I have had many episode of what I think are TIAs and these have been witnessed by family members. I just can't find anyone to put the puzzle together. I have an appointment with my GP next Tuesday and I am going to try to get the tests done for Hughes Syndrome. Maybe he knows a good geneticist! Thanks again!
    loraine10 5 Replies Flag this Response
  • I'll try to be brief. Me - 50yr female with 18 yr old daughter. When she was 1 I developed 3 DVTs in 3 deep veins in left leg, extreme shortness of breath. Hospitalized for 3 weeks - Heparin drip followed by 6 months on coumadin. Slowly developed the following symptoms: episodes of chest pain and down left arm, confusion, memory loss, blurred vision, low BP. All cardio tests were okay but then Docs put me on treadmill - collapsed with 138 pulse. HR/BP sudden drop, incoherant. Given atropine and taken for cardiac cath - nothing showed. Symptoms continued with occasions also of sudden fast HR (180) during rest and other symptoms. Failed TTT with drop in HR/BP. Daughter developed symptoms - first showed up when she was about 10 and swimming competively. Got more frequent around age 15 to complete collapse and same symptoms as me. She failed TTT - HR/BP drop. Symtoms are always there at some level along with fatigue. Family history: grandfather with "thick blood" (blood taken regularly as treatment), mother with autoimmune disease (sojgrens), dad with MS. Only diagnosis we get is NCS but we never faint except on TTT - wondering if it could be Hughes (APS) or other blood disorder. Any input would be great....I would love you if you could point us in the right direction!Hi!Loriane, I think you are in great trouble I want to help you but.... its ok If you want to get rid of this disease (if genetic) then please contact any expert and honest homeopath (world class). only a homeopath can solve your problem be patient and get your treatment I wnt to help you but i think you are so far from I feel sorry for that. If I can do anything else for you please
    Anonymous 42789 Replies Flag this Response
  • Loraine10,Sorry it's taken me so long to get back to this thread. I'm glad you have some more suggestions, and I think you are on the right track. I would get tested for Hughes, as you seem to have many symptoms. It can't hurt to test. I would also have your doc look further into POTS.....just because it's 'rare' doesn't mean you don't have it. The failed TTT is really indicative. It's also good to test for Factor V Leiden....why not re-test? You don't mention any of your blood clotting issues with your daughter.....has she had any of those symptoms or is it just the blood pressure stuff? It doesn't seem right to me that she has to quit swimming for the rest of her life-- surely they can figure out a way to allow her to do things she loves, safely. With many auto-immune things, miscarriage (I'm sorry to hear that!) and clotting issues are common (I know the miscarriage thing is really common in SLE). See the Rheumatologist for more specific testing if you can, it's possible it's not Hughes but some other auto-immune or maybe several at once. I know you understand that, I just thought it was worth mentioning again. I have 3 auto-immune (SLE, Reynaud's and Sjorgen's) along with fibromyalgia. Seems like they all go together. It's also possible that you have more than one condition causing all of this. Not everything is necessarily linked. I was wondering if Pots like symptoms are similar to Hughes?The Hughes seems to be more about blood coagulation, whereas POTS is more about a malfunction of the vagus nerve that causes light-headedness and syncope. Both affect your blood flow; it's possible to have both. According to the internet sites about POTS, it's not all that rare. I know many on this site have it and this site: http://www.nymc.edu/fhp/centers/syncope/pots.htmseems to explain it well and also says it's common. And yes, I do enjoy discussing this with you. I'm glad to have been able to give you some suggestions-- I hope they help. You are not boring me one bit-- this case and you yourself are very interesting to me! I really hope you get to the bottom of all this. Good luck, I wish you and your daughter well!
    Harmonium 322 Replies Flag this Response
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  • try researching dysautonomia.
    Anonymous 42789 Replies Flag this Response
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