Some of your expert advice please!

Hi there,

Just looking to the experts (you guys) for some info about Hughes.

I'm twenty-one, a student and live in London. Over the last three years I've been getting sicker with various conditions, and have been diagnosed with Ehlers-Danlos Syndrome which is a genetic disorder, nonalcoholic steatohepatitis (liver disease) for which they've found no cause, gastroesophageal reflux disease with vomiting and recurrent kidney stones. I'm due to see a cardiologist because of recurrent headaches, dizziness, trouble concentrating etc this Thursday.

My GP, gastroenterologist and physio wanted me reevaluated by rheumatologist once it became clear I was having multiple parts of my body going wrong and because the good folks at GSTT hospital are super booked up we paid to see Dr Sanna at London Bridge to get some quicker answers.

The thought was that I had something like RA because even though Ehlers-Danlos causes joint pain I was experiencing quite a lot. After the full ten vials of blood however I got a positive Lupus Anticoagulant instead.

Now I'm not sure what this really means. I know I need to be retested in twelve weeks (ten now) but having been getting sicker and sicker and constantly having drs tell me not to worry and then ending up with another chronic condition I want to be informed.

I've had a read of the websites and while I haven't had a clotting episode (just a PE scare last year when I went to A&E with chest pain, that was ruled out with chest xray) I do experience the other symptoms. The problem is that the dr told me those symptoms aren't proven to be related, so I'm not sure what to think. Hence I'm here to ask you all who live with it.

Thanks for your time,

Natasha

7 Replies

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  • Hi Natasha

    I am sorry to hear you have got all these new diagnoses thrown in your lap, but in some ways you are actually lucky - being so young and getting a proper diagnose for what you experience.

    I am 50 years old, diagnosed with Ehlers-Danlos Syndrome, APS (Hughes Syndrome), Protein-C deficiency, fibromyalgia, POTs, SOD, IBS, gastroesophageal reflux with oesophageal dysmotility (swallowing problem), migraine and a long list of deficiencies. The list is quite extensive, this is just the shortlist.

    I was diagnosed with EDS at the age of 42 and APS at 43. Most of my life before being diagnosed I seemed to get nowhere when complaining about all the things I suffered with, at least now I get taken seriously. So for that reason it is good to have a diagnose, it makes it easier for doctors to know how to deal with you and you know what’s wrong with you. Unfortunately there is no known cure for most of the things you experience, and a frustrating thing for me is that many of my symptoms overlap, I would think they do for you too, so it is hard to know which condition to blame. With a diagnose like Ehlers-Danlos it is easy to blame it for anything you experience, but don’t settle for doctors telling you ‘it’s probably EDS’, if your gut feeling is that it probably isn’t – many doctors know very little about EDS unless they are rheumatologists.

    As for APS, it is different for everyone, from no symptoms at all to really severe. Many of the most common symptoms will overlap with what you already have with your other diagnoses so yes, I know this is going to be difficult to weed out what’s what. Maybe you never will, I haven’t :-) For me personally, I know my migraine is closely linked to APS, it got somewhat improved when I switched from Warfarin to Fragmin and I am therefore now on Fragmin for life. I also have memory problems, severe fatigue, and joint pain, all of which are linked with several of my other diagnoses too.

    If your second LA test is positive too I suggest you try to get on a waiting list to St Thomas, I go there once a year and I am very happy with the doctor I am seeing. You can get a list from this forum of doctors recommended by us if you are interested, but as you live in London, St Thomas is the place to go really.

    I am sure other people will be helpful here and explain the symptoms they are experiencing, but depending on which doctor you ask, some or many of the symptoms we all experience might be dismissed as not related. I have also had doctors telling me that symptoms I have isn’t related to this that or the other, whilst other doctors tell the opposite. I guess you just have to choose which doctor you would like to listen to.

    I wish you good luck with your investigations.

    Take care,

    Helene

  • Thank you so much for your reply, I'm obviously not happy that you have so many medical conditions but it is reassuring to have my everyday problems echoed by somebody else! As you said there's so much overlap and as EDS is rare and I'm relatively young it's been a big struggle with most doctors convinced it was psychosomatic to start, and then even since diagnosis I tend to get shock and disbelief that it's really accurate.

    Like you say it's easy for doctors to lump everything in with the catch-all untreatable mystery of EDS, but when you're chronically ill you start to know when something is seriously up. My family spent the last three years trying to play down any symptoms I got while I was trying to explain that I know my body and I really do know when it's something transient compared to something substantial! Luckily I have a fantastic GP who seems to be a medical encyclopaedia and can tell straight away when I need referring, and makes her own provisional diagnoses to start treating even before she gets confirmation.

    Like you say, I'm lucky to have my diagnoses and to live in London, so I can't really complain (except about the three colonoscopies, five endoscopies and two surgeries it took to 'rule things out' plus the dreaded manometry for the GORD). I just like to be proactive as when the doc says the next blood test might be negative, with my body I have to be prepared for the contrary.

    Do you mind me asking if there's been any established links between your conditions by your medics? I know that my GORD, IBS and potential POTS (pending the cardiologist on Thurs) are supposedly linked to the EDS, but this is a source of debate between my docs.

    Thanks again!

  • Hi again Natasha

    There should be no doubt that POTs, IBS and GORD are linked to EDS, if you meet doctors that are questioning that then that’s possibly because they are not used to treat EDS patients?

    As for me, the above 3 diagnoses are on my list and are linked to my EDS, my migraine can be linked to several diagnoses – hard to say what, as many EDS patients also have migraine, but as I said in my reply above, I know my migraine got a bit better when I changed medication I take for APS.

    If you want to talk in more detail I am more than happy to do so, just message me directly and I’ll answer any question I can. I know the EDS forum is not as active as this forum but there might be people over there who could answer questions too. I am not sure if there are other people there with both EDS and APS but I am happy to help. By the way, I live in London too :-)

    Take care,

    Helene

    PS! I know all about numerous operations, procedures and investigations, I have been doing it for the last 35 years....

  • Hi Natasha

    I'm sorry to hear of all your problems. We are not medical professionals on here so not 'experts' in that sense but we all have APS and some of us have other disorders too, so we have knowledge of living with APS.

    I had two bouts of hepatitis in the 1990s, before I was diagnosed with APS, where no viral cause was found. Prof Hughes explained that it was ischemia in the liver, where the liver becomes clogged with sludgy blood.

    I have asked my colleague, Mary, to reply to you as she will be able to address some of your questions better than I can.

    Best wishes.

    Dave

  • I figure living with it makes you more expert than any medical degree, although I have great respect for my doctors they don't know - with the exception of my gastro who shares my conditions - what it's like to live it. Thank you for your reply, the liver disease is really confusing my docs and my friends in the liver community here on healthunlocked, as I don't fit the risk factors at all. It would be interesting to look APS as a possible explanation!

  • HI, firstly I will confirm my colleague Dave's advice about us not giving out medical advice, but also to say that it is great that you are at London Bridge, they will be awaiting your second lot of blood test results and if they are positive again, and will be aware of the experts who reside in the London Lupus Centre at London Bridge who fully understand Hughes Syndrome/APS in it's entirety, I also can see that on Health Unlocked there is a forum linked to the charity for Ehlers-Danson Syndrome (EDS). It is not unusual for some people with Hughes Syndrome to have Hypermobility issues, due to overlap with other diseases, quite a number of people have a wide range of autoimmune conditions other than just having Hughes Syndrome/APS. With regard to chest pain, again if not a clot, this is not uncommon, pain in that area with regard to connective tissue disease for a variety of reasons. Stick with your doctors at London Bridge so they can help you get to the bottom of it all. MaryF

  • Hi Nat,

    Sorry to hear yr so ill at such a young age, APS has a vast range of symptoms. I have a scar on my left kidney from APS!

    Once again doctors show their ignorance with this illness, you need a specialist!

    I think krill oil will help you and ionic silver please look them up!

    Krill oil is great for foggy brain!

    My thoughts are with you, good luck and TC :) x

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