Saturday, 18 September 2010

Frustration, hissy fits, and hypochondria.

I'm frustrated. Really really frustrated. Logically, there is no reason for this frustration. I should feel good, I should feel happy. I have a diagnosis, I have a referral. A small voice in my head keeps saying 'Come on now, what more do you want?' I listlessly scroll through the ARC webpage on Joint Hypermobility, clicking, reading half a page and then pushing away in frustration. The more and more I read, the more I look through pages, the more I think, the more I believe and simultaneously disbelieve, that I've been under-diagnosed. Part of me is screaming 'THIS CAN'T BE IT. THERE'S SOMETHING MORE WRONG HERE.' and part of me is muttering 'Oh shut up, please just shut up, you have your fucking diagnosis now please please just get on with your life.'

I have a 'modest' Beighton Score of 5, possibly 7 but I can't tell how far 'back' your knees are supposed to bend to 'count' [Edit: I got Mr A to have a look at the charts and then my legs, he says my knees definitely look like the ones in the picture. He also says my elbow is way more severe than the pictures of 'backwards' elbows. So that's a solid 7, meaning I only fail the pinky test!]. I am in pain almost all day, every day. I am always exhausted, I have extreme trouble with sleeping. I can't get off to sleep and then I can't wake up. I can't keep my weight up no matter what I do. I have had mysterious heart problems for years now, wherein my heart will start having palpitations or 'dips' or my chest will hurt or I'll have what feels like a heart attack. These are repeatedly dismissed either as panic attacks or without any answer. I pass the ECG, the nurse/Dr shrugs their shoulders, I am ushered out of A&E with no answers, still terrified I'm dying. This has become so bad that even when these 'attacks' are incredibly painful and even temporarily affect my vision, I no longer seek medical help.

I show SO MANY of the characteristics for people with joint hypermobility related syndromes. Even a quick browse through a list shows that. Lets have a look (I've italicised the applicable criteria):

Marfan Syndrome:

People with Marfan syndrome tend to have several physical characteristics, including:

  • being tall (I'm almost 5'7 and would have been taller had I not spent my teen years starving myself.)
  • being slim (I have never in my life been a 'normal' weight. I have always been extremely slim)
  • having long, thin arms and legs
  • having loose and very flexible joints
Other physical signs of Marfan syndrome can include:
  • small bottom jaw
  • high, arched palate (roof of the mouth)
  • deep-set eyes
  • flat feet
  • breastbone (sternum) that either protrudes outward or caves inward
  • crowded teeth
Many people with Marfan Syndrome also have vision problems. I'm short-sighted and my eyes are quite weird. They re-adjust and unfocus and re-focus much more often than is normal or necessary. This in itself doesn't necessarily mean anything but chucked in with everything else it feels significant. While I was in my appointment Dr Rheum kept asking if I had lens dislocations. He came back to it a couple of times, seeming to mull over it, which makes me believe he saw Marfan Syndrome as a possibility.

Then we have Ehlers Danlos Syndrome, which is what I was convinced I had up until recently.

Ehlers Danlos Syndrome:
  • skin problems
  • soft velvet-like skin
  • fragile skin that bruises or tears easily
  • stretchy rubber band-like skin
  • easy or severe bruising
  • poor and slow wound healing (usually taking weeks to months to heal)
  • small harmless bumps under the skin
  • joint problems
  • loose unstable joints causing frequent dislocations usually occurring in the shoulders, knees, hips, collar bone or jaw (see figure 1)
  • double jointedness (hyper extensible joints), extreme in some cases
  • eye problems
  • nearsightedness, occasionally extreme
That's a lot of italics. But the problem is, I could probably find a lot of italics on a list of symptoms for LOTS of problems that I genuinely DON'T have. Where do I draw the line between a logical step and an imaginative leap? I read two 'bendy-blogs' (Veronica over at Sleepless Nights and Bendy Girl at Benefit Scrounging Scum, both have Ehlers-Danlos) and SO MUCH of what they say and experience feels so close to my life. In e-mails with Veronica we've both felt that my problem extends beyond 'just being a bit flexible' but I think we've also both felt a bit helpless. She knows firsthand the issue with misdiagnosis. But again, I until I properly looked into EDS I was 100% sure I had Chronic Fatigue Syndrome! Admittedly the list of symptoms is almost identical to a range of joint hypermobility related syndromes + depression, which I had, but still. If I'd been a doctor I would have diagnosed myself with it on the spot. Then I read about EDS and suddenly I think I may have it. Then I read about Marfan and I'm all 'OMG, I'm tall! And thin! and my eyes hurt! I have Marfan Syndrome!' I'm my own worst enemy, the more convinced I become that I'm sick, the more convinced I become that I'm a massive hypochondriac. How do I shut this cycle down and just move in a straight line, preferably forward?

At the base of it all, this has been a horrific year. From January when I started this blog, when I was first realising that something just wasn't right and that maybe it wasn't all in my head, to my rapidly degenerating physical health, to the highs of getting a referral to a Rheumatologist and the lows of waiting to see one, to the emotional confusion of that appointment itself.

Today I watched my 14month old do the splits on a shop floor while the assistant looked on in wonder. "Wow, is she supposed to be able to do that?" she asked, clearly shocked. My heart lurched and I felt sick. I have to find out what's wrong with me so that when the time comes, Bug doesn't have to live in pain while waiting to find out what's wrong with her. As soon as she's old enough I'll be Beighton-Scoring her. She's not living like this, and she's not living with the thought that she must just be fucking crazy. She's always going to be able to say 'Actually, it really does hurt, it hurts because I have [whatever], which means [whatever].' She's never going to endure having her spoons snatched away from her by people who are forcing her to do things because she can't explain to them what's wrong in language they accept. She's never going to leave a doctors office crying and humiliated because some patronising prick with a PhD has told her that her pain is all in her head. She's never going to consider killing herself because she believes the alternative is to live in pain and the limbo of being labelled a hypochondriac forever, with all the lack of sympathy, empathy, and compassion that comes along with that. It may be too late for me, I may have done all the damage already, but she will go through the same struggles over my cold, dead body.


  1. Hi! I have Marfan syndrome; your blog came up in my Google Alerts. When it comes to Ehlers-Danlos, there are many different types. That may very well be why some of the symptoms fit you very well and many do not. You can find out more about the diff. types at, or I'd be happy to put you in touch with some of my friends that have various types. I know a LOT of people all over the world with different connective tissue disorders. Have you had a slit lamp test to check your lenses and retinas? Lens dislocation should show up on that test, but I'm not sure it's a standard test at general eye exams. The one thing I've learned over the years is that your gut is often right. If you feel there is something more going on than what you've been initially told, trust that. Oh, and has your entire aorta been evaluated with an echocardiogram/MRI/or CT scan? Is it dilated at all? Most types of Ehlers-Danlos do not have aortic dilation associated with them (except vascular and one or 2 extremely rare types); that's one of the ways to differentiate between Marfan and say, hypermobile or classical types of EDS. Lens dislocation is another.

    If there's any way I can help point you in the direction of doctors who might be more knowledgeable, or answer any questions for you, let me know.

    ~ Maya

  2. That sounds horrible! I really hope everything works out for you and your family. : ( Sending loving thoughts your way!

  3. Maya: Thanks so much for stopping by! I literally have not had any tests. When I saw the rheumatologist he did a Beighton Score and asked if my eyes ever dislocated (I was a bit 'wtf?' and then said no, I had no idea if they did or not by not to my knowledge!) and that was it. I had a standard blood panel done, which I think was mainly to test for anemia (they are OBSESSED with the idea that I'm anemic. I never am.) and that is literally it. He sat down and said 'Right, well, you have hypermobile joints.' and that was just it.
    I don't know where to go from here. My GP thinks I'm a pushy hypochondriac, the Rheumatologist thinks he's done all he needs to do, and without knowing what I'm facing I don't feel like I can go back and demand something more. I feel like if I went to my GP and said 'I think I have [X]' then it would just further his idea that I spend too much time consulting Dr Google. I feel like I've reached a dead end and I don't know how to get past this.

    Sara: It is horrible. I'm grateful in some ways, at least I have a foot in the door, so to speak, but I feel like he just diagnosed me with the first easiest thing that would require the least further action.

  4. The thing with connective tissue diseases, is that there is a lot of crossover. I definitely have EDS, but I fit the full diagnostic criteria for Marfan too. It's just how it works, it's all basically the same fucked gene. My arm span is way longer than my height (about 5cm longer) among other things.

    EDS has different types, like Maya said, and Marfan is very similar too.

    The thing about hypermobility is that it affects SO MUCH MORE than a simple statement of a bit hypermobile portrays. It makes you sick and exhausted and in pain.

    Honestly, my GP thought I was a hyperchondriac too I think, he really didn't want to refer me to the geneticist - I ended up going in to the appointment with my FATHER, who had/has all the same symptoms, because without someone else to back me up, the GP didn't want to diagnose any further than CFS.

    And then the geneticist told me it was the easiest diagnosis he's ever made. I nearly cried, in relief.