Requesting your thoughts, please

Howdy folks,

This morning I’m again in pain and rather stiff.  I know that many of you have rather specialised knowledge, and would appreciate your thoughts on getting diagnostics.

I have a number of conditions, both common and uncommon, including Raynaud’s, migraines, cough-variant asthma, tinnitus & hyperacussis and Auditory Processing Disorder, motor tics, and assorted neurological glitches including prosopagnosia (face-blindness) and ADHD. Getting these things diagnosed over the past decade has been wonderfully helpful for those that can be medicated, figuring out how to make accommodations for those that can’t, and being able to prove to others that I have documented reasons for difficulties, and that I’m not being lazy or stupid.

However, the crux of this post is that I also have hypermobility-related problems, including osteoarthritis, TMJ (temporomandibular joint disorder), prolapsed uterus, repeated shoulder subluxations, crackly joints, stretchy skin and places where my skin repeatedly cracks open, poor proprioception, bruising easily, and local anesthetic not lasting very long (which along with the TMJ makes dental work challenging).

You can see my pictures on this page. Several people have suggested that I have Ehlers-Danlos and/or Marfan’s because I have really long fingers and can hardly find women’s shirts that fit because of my long arms. (Funny thing is, I’m the shortest person in my family of origin at 5’5″; the rest are around the 6′ range, but similarly proportioned.)  More discussion of the proprioceptive issues is here.

My problem is that because I have pursued getting so many diagnoses, I fear that my assorted docs may think I’m either a whiner or a hypochondriac (even though I was right in my suspicions).

I have a rheumatologist, who put me on the twice-daily Naproxen for the arthralgia and Nifedipine for the Raynaud’s. But it was my psychiatrist who thought put me on twice-daily Gabapentin for pain, which helps me sleep better at night (in addition to the 2″ thick foam mattress topper, and pillow for my knees). Managing pain is sometimes a major preoccupation. As I’ve said before, legitimising the reality of pain is difficult. If you complain, then you’re “just being whiny”. If you don’t mention it, then no one realises just how difficult your life is, and assume that you’re not functioning well because you’re lazy or stupid. Other people tend to view the episodes of being less obviously in pain, or episodes between migraines, as being evidence that the person affected has “recovered” (like they are supposed to) and that the issue is gone (and thus accommodations are no longer needed).

When visiting doctors, there’s a fine balance to strike between self-advocacy and being explicit enough for them to understand the magnitude of the problems, and how those problems interact and magnify each other, but also avoiding coming off as being a neurotic female or a prescription-seeking druggie.

I also had to ask my rheumy if I didn’t indeed have hypermobility, which after demonstrating a few “tricks”, she said that I do.  She didn’t take a Beighton score, but then again, I performed all those anyway, so that may have been moot. At least she has the hypermobility charted.

So if I’m getting at least some of my symptoms treated, why would I want to explore further diagnoses of Ehlers-Danlos or Marfan’s?

Well, there are possibilities for other related health issues.  But also, my daughter is pregnant, and although it’s my son (rather than my daughter) that has some of my neurological glitches and hypermobility, I’m concerned about genetic issues.  Almost ALL of the health problems I have carry some genetic basis.

But you can imagine the kind of reception a person would get going in to a doctor and saying, “A bunch of strangers on the Internet say I have this weird, rare disease”!  :-D

Like I said, I don’t want to be seen as some attention-seeking hypochondriac. But I had to ask my rheumy about the hypermobility, and she’s not gone beyond that, even when I managed to sprain my ankle merely walking across the flat sidewalk into her office.  (Although she is otherwise thorough with x-rays to check for bone density & arthritis and blood tests to rule out autoimmune diseases.) My GP refers all of specific health issues to my assorted specialists (OB/GYN, psychiatrist, rheumatologist, etc.) so I know that he would not assess me.

Do you have any ideas on how to broach this, “I too, may be a zebra” question with my docs, or get a referral for a geneticist or whatever?  (Mind you, I’m in the US, so must deal with the intransigencies of my insurance company.)

Thank you for your time and thoughts,

andrea

22 Comments

  1. 9 April 2011 at 10:14

    Kinda bizarre to discover an email pointing you back to this now 2 years old thread.

    Did you pursue a diagnosis? What was the result. For me returning the GP as the regularity of my stiffness and the amount constant pain has been getting worse, and worrying about RA again, all my GP said was hypermobility and possible Fibromyalgia, not a lot of help, but then they rarely are :(

    Being on the borderlines of something does not necessarily mean it has a lesser impact on you.

  2. 20 August 2010 at 8:52

    Interesting to look back on old blog posts and then consider what has happened inbetween, since writing that I have had one brief hospital stay due to sudden chest pains and tachycardia, and a cardiac stress test. The pains remain unexplained, my heart seems strong enough but there are some odd rhythms that the cardiologist would not explain to me, saying it was too complex, but it is not dangerous. As for MRI’s I have had a neck MRI that has shown deterioration since the last one, normal age related stuff, but does now show the nerves being pinched, the rule being that you can feel it long before an MRI will show it, and it’s not all that pleasant being able to go back and say “I told you so”

    At the moment I am recovering from a badly sprained ankle, once again it did not break, so you can say in one respect there is a utility to hypermobility, unless of course it contributed to the accident in the first place, though I would contend that encountering an unexpected set of steps in the dark was the actual cause. I have also read that over 50’s would not be expected to show as many bayton points, since flexibility does decline with age. Mind you for a 50 something I am still quite agile despite the pain I increasingly suffer in various joints

  3. JamesD said,

    11 June 2009 at 10:36

    Thanks for the useful info. It’s so interesting

  4. brilliantmindbrokenbody said,

    7 March 2009 at 23:04

    I’m an EDSer.

    Your symptoms sound EDS-y.

    From the sound of it, you’re having trouble getting decent pain management – A) see if you can get yourself diagnosed and B) try to get a pain management specialist instead of a GP or a rheumy.

    When I started with mine just over a year ago (undiagnosed, and with what we thought was a possible neurological problem), he immediately gave me more than twice the amount of medication anyone else had been willing to give me.

    I’ve continued to have problems and he hasn’t quite kept up, but he’s done one hell of a lot better than anyone else has been willing to.

    When I saw him last week, for the first time since the diagnosis, suddenly the level of medication he was willing to offer me was much higher.

    Other people have noted how helpful the physical support you can get with a diagnosis is. I wear ankle and knee braces, and walk with crutches – one of those EDSers who’s on the edge of not being able to walk anymore, at 25 – these aids are really, really necessary.

    Also, even without a diagnosis, a physiatrist is more likely to treat your symptoms and not blow you off. My crutches, ankle and knee braces, wrist braces, and finger splints actually all came before the diagnosis. It was good enough for my physiatrist that I hyper-extended and dislocated, the why wasn’t as important.

    If you’re at a geneticist’s, when they examine your joints for hyperextention, demand that they measure them. The first geneticist I saw said I scored a 2 on the Beighton scale; in reality I score a 6. To measure them, they’ll just need to hold a little tool made up of 2 pieces of plastic or metal with a hinge that measures angle next to your joints when they are hyperextended. For a Beighton point, your knees and elbows must go past 10 degrees, but unfortunately many people think they are good at eyeballing this and are not!

    If you don’t know where to go, I put in an extremely strong recommendation for Dr Clair Francomano at the Harvey Institute for Human Genetics in the Greater Baltimore Medical Center. She’s the one who corrected the mis-diagnosis I got from the first geneticist. I know a bunch of other EDSers, and everyone who has seen her speaks of her in superlatives. She’s one of the top 3 or 4 geneticists in the country for EDS.

    She is a bit pricey, but she takes insurance. Sorry about that long plug, but I don’t think anyone else could’ve diagnosed me – I am apparently a ‘subtle’ case.

    I’m a zebra of multiple varieties, and also possibly a unicorn of multiple varieties, too.

    ~Brilly

  5. 17 February 2009 at 10:43

    My dad died from a heart attack, and while he was in hospital helpfully (or not) described all the symptoms to me including a pain that went all the way down one arm and into the finger and up into the jaw.

    Well I am a man over 50 so perhaps they did take it rather seriously when I went into emergency, in fact so seriously it did not diminish my anxiety it increased it after I went into triage there were two ways out. A nurse told me that if you went in one direction you were ok and if you went in the other it was something serious. Well I was beckoned off into the something serious direction :( and just lay there as quietly as I could on the bed thinking “this is the big one” – Well it wasn’t fortunately. My gran died from an aneurysm so I guess it does worry me, nobody would really know unless it were checked and maybe I should have had more patience.

    I remember the first time I was seen by a rheumatologist, I did all the wrong things, I was absolutely stoic as he pulled my arms and legs around. I thought he knew what he was doing and would discover anything by feel, I had no idea that I was supposed to tell him when it hurt.

    It was a neurologist who offered me the explanation that hypermobility may be the cause of my joint pains and weaknesses, but she was unwilling to investigate anyfurther, in fact it was a good job I insisted because I have had a couple of operations since for trapped nerves, which might have had a better chance of success if they had been performed earlier (eg. if that stupid rheumatologist hadn’t given me a clean bill of health, notwithstanding I had been diagnosed with carpal tunnell years earlier, which my GP refused to recognise (idiot)

  6. Melody said,

    17 February 2009 at 8:03

    “I did go to emergency once with the pains in my arm fearing an atypical heart attack. After a normal ECG the Dr wrote it off as a pinched nerve, he did offer to do further investigations, ultrasound or something, I don’t know, but since it meant waiting for half the day, I did not take the opportunity, maybe I should have done just in case there is some abnormality there.”

    That would be the echo, which would’ve seen any dilation or dissection of the aorta. At the time it would’ve been best to get it, but fortunately you’ve been well, so most likely it wasn’t a dissection, or there’s a small probability that it was a very small one that scarred over (someone I talked to who got surgery later on had the surgeon remark that their aorta had clearly dissected and scarred over previously).

    I myself had a scare with severe, sudden chest pain, also in the shoulder and leg, and was concerned not only the symptoms but family history of serious heart problems, though I developed a shortness of breath while lying down waiting for the ambulance, and on the way to emergency room and that’s what they focussed on, and my chest problems were all pretty much forgotten until I even told them again in the emergency room. I just got a chest x-ray, so even though I didn’t think I was really experiencing a dissection (at least I sure hope I wasn’t/aren’t!), I wanted to have the proper test to rule it out, particularly as the pain was just awful and I didn’t want to mask the pain away with pain killers when there’s possibly still an emergency going on. Unfortunately my difficulty with speech (even though I was doing a lot of speech considering the circumstances and my usual patterns), and I overheard such things as “She’s 19, unless she’s having an asthma attack or something…” (Because only 50-year-old men have heart attacks.) They were trying to make me sit and wait in a waiting room for three hours, when I have scoliosis and a back pain that is so severe when sitting in most regular chairs that I may pass out, and that’s when I’m NOT having chest pain.

    So, point is, in those circumstances an echo or a CT scan would be best, as these would confirm or rule out dissection or abnormal dilation. EKG, chest x-ray, can come back normal and you can still be having a dissection that needs emergency surgery (thank goodness that wasn’t the case that time, and sure hope it wasn’t for me – 52 hours have just passed so if it is a dissection that would mean <50% chance of living if it was treated now, compared to about 94% chance if it had been caught in the first few hours with the test I had requested.

    At least my experience there was better than later on at the other facility next day I took a taxi because we couldn’t afford an ambulance. I wasn’t only told that in her medical opinion that dissection was unlikely (reasonable), but was told that if it would have been a dissection I would’ve been dead by then (which is not true), less than 20 hours from when it started and I was passing out in her office. I was quite worn down from the previous stay in the hospital (and the day before because of bowel problems), and unfortunately couldn’t manage to make the expressions of pain that I had before, and was mostly frozen in pain as I talked in rehearsed monotonous “forced naturalness”, oft described as “stoic”. Being told when sick about to throw up and a nurse offering pain medication and I don’t take it quick enough that “You’re being inappropriate!” repeatedly and so I bang my head and cry, the pain and frustration too much, sitting alone in a room for hours because nobody would take me seriously. I just thought it sensible to rule it out is all. With such severe pain in the chest and the back betwen the shoulder blades, and on the shoulder. And my sister I want to get evaluated for EDS or Marfan or something, and I have a number of traits as well. And I told them these things, that there’s history of heart problems and hypermobility and my sister should be getting checked out to see if she has one of them, my dad being born with mitral valve prolapse and all (which in itself wouldn’t be serious but with the other factors I consider it), why wouldn’t I be taken seriously? I think autistic body language has a lot to do with it, because while they didn’t do a test to rule out dissection during the ER visit, and I did overhear one dismissive comment from a nurse who was busy and over-worked (I mean, other people had serious stuff going on with them, I understand the frustration involved with that is immense), but overall it was nice and positive, and that was the day I was clutching my chest and moaning and groaning. They may have misinterpreted this as being a complaint of breathing and the lungs, due to some verbal miscommunications, but they mostly listened to what was going on to the best they could (I left satisfied at the time, as I was in quite a fog and heard the word “chest” in “chest x-ray” as “CT” because the letters meshed together, so I thought they’d done a CT scan, which is strange because in the last 5 years I’ve had x-ray and CT before, and I know they’re different, though the CT I had at 13 was on my head.

    So the first visit miscommunication was verbal, then the next one was non-verbal.

  7. 16 February 2009 at 5:47

    I don’t have any advice on your question, but I just have to say thank you so much. You have just answered for me a question I’ve had my entire life — why the heck do my joints pop and are so painful? I’ve also survived a ruptured aneurysm. All my joints overextend, and I’ve never heard the term hypermobility. I’ve broken all my limbs because of my loose joints. Thank you for solving a mystery that I’ve wondered about for over 40 years!

    I hope you feel better soon! Bonnie

  8. 13 February 2009 at 12:36

    Eek I have just read that Michael Phelps DOES have Marfan’s !


    That’s me BTW not a young Michael Phelps.

  9. 13 February 2009 at 11:38

    My Arm span is about 4 inches wider than my height. Having arms longer than ones height is a characteristic I share with Michael Phelps BTW.

    Can anyone else rotate there hands through a full 36O degrees.

    I nearly called an ambulance this morning though, as I woke up with a massive leg cramp, I would not have worried but that I had significant tenseness in the rest of my muscles too, and was fearful that if they were to cramp to the degree my leg did I would not be able to breathe.

    The leg cramps come without warning and are extremely painful,.

    Thing is my Dr’s just dismiss it all because of my age. I did go to emergency once with the pains in my arm fearing an atypical heart attack. After a normal ECG the Dr wrote it off as a pinched nerve, he did offer to do further investigations, ultrasound or something, I don’t know, but since it meant waiting for half the day, I did not take the opportunity, maybe I should have done just in case there is some abnormality there. However it has lasted 53 years and I guess if I did have some severe abnormality a la Marfan’s it would have taken me out by now.

    There is a spectrum of these things of course, if one goes googling, one sees extreme medical photo’s of EDS, Marfan’s or whatever and of course looks in the mirror and sees nothing like that, and so dismisses it.

    I do have extremely unusual posture though, which was something that was noted when I was dx’d with AS as a symptom, and as I recall ligamentous laxity is mentioned in Tony Atwood’s book.

    I would say though that these are hardly scientific proofs, and indeed I would hazard a guess that this would only be one of the many subtypes of autism one can have given the mathematical probabilities involved of multiple genetic factors, and self assembling emergent properties which are not directly genetic as such, but rather what you might get when you grow trees in isolation rather than in a forest, same genes, different appearance entirely.

  10. Melody said,

    13 February 2009 at 7:06

    “Getting an EDS diagnosis is bigger than just getting the diagnosis, it’s also important to have all the possible complications diagnosed or excluded and for that you definitely need an expert.”

    I really agree with this, wholeheartedly. I don’t think I have Marfan’s, or EDS even (though I have a Beighton score of about 5, maybe more). But my sister has a lot of the symptoms and I want her to go to a doctor to see if it’s EDS or Marfans or something. (Also, while it’s a dominant trait you don’t need to have a parent who had it; it could be a mutation). I happen to have a lot of the other related traits, including hypermobility,scoliosis (30 degrees), extreme near sightedness, back symptoms that resemble dural ectasia (MRI is scheduled to confirm or rule out), and some other things. (Though I don’t think I have it because my fingers are about average length; if I do the wrist tests the thumb and finger only overlap about 1/4 to one half a segment.)

    However, because I have had these other traits, I do wonder if I have some kind of connective tissue problem that, regardless of whether anyone would call it Marfan’s or EDS or anything (maybe it’s just some genetic thing that’s just happening, not necessarily something that has a name aside from the separate conditions?), then I still want to investigate how my heart is doing on an echo, particularly as my dad was born with a heart murmur and because of some recent chest pains and sensations (hearing/feeling my heart beat irregularly at times, in my ears it almost feels like).

    “I’d probably rule out Marfan’s on the basis of your height, since people with it are nearly always significantly taller than unaffected family members, and have quite distinctive proportions – like Beth, if she doesn’t mind me using her as an example.”

    While it is much more common to be taller than those in the family, often to 6 feet and higher, the main aspect is of the ratio of arm span to height, and the upper part of the body to the legs/lower part (I think usually the legs grow much longer compared to the upper body). While 4 feet 9 inches would probably be a stretch, I’ve heard of people with Marfan’s being 5 feet 8, yet having the other proportion signs. I personally agree that EDS is more likely, but I am certainly no doctor (wish I was; would save me a lot of bus trips on the weekend!).

    The thing about problems with the heart and the aorta is that often they can go undetected until a major event. And if you are indeed predisposed to such a thing (whatever the diagnosis), then aside from any precautionary measures, it would be good to know the signs and what to do and when (I don’t know about you, but for me I am terrible at describing pain and often at localizing it, until it has gone by a long time, and also have major difficulty assessing the seriousness of certain situations, so for me, if I do have some sort of heart problem I would like to go over what are the symptoms very thoroughly and at what point do I need what degree of medical attention, how to communicate to medical people what’s going on (which is hard enough already even when I’m in top physical shape!), etc. Because with my intermittent speech and unusual body language, “unique” interpretation of the pain scale, I see my chances in an emergency going down. It may be extremely difficult to communicate now with doctors, for whatever constellation of reasons, but it would be far better to develop a strategy and get around that now rather than wait until it’s really urgent.

    Personally, I don’t know how I’m going to exactly communicate this need myself. I intend to plan it out, write it down, what I’ve been going through and what my concerns are. That since I’ve been experiencing some chest pains and that some heart problems can be related to hypermobility,I am concerned about what might be causing this. I’m not sure if that’s the best approach, but that’s what I can think of now. Maybe I’ll mention my dad’s heart murmur?

  11. 11 February 2009 at 18:12

    I will probably get shot for saying so, but “medical” diagnoses are as much social constructions as anything else with cultural differences between what is called what in one state and what it is called somewhere else and how it is treated.

    Remember the essential in all this, a diagnosis is not a scientific “law” – that is to say a confident and absolute predictor – it is a professional opinion, and ICD 10 (or is it 11) now is as much a political document as something like DSMIV is.

    The names we use for conditions, disorders, diseases, call them what you will come with a lot of sociological and cultural baggage, especially all that Greek.

    Syndromes are just collections of symptoms that commonly go together, but the etiologies of such are very much up for debate.

    We are all a mixture of all manner of different funtions and bio-technologies, some of which funtion well, others which are prone to more rapid wear or failure, and how we relate to all of this is governed by how we are aware of them or concieve of them, and how society responds to and names them.

    At the root of it all, medicine never overides politics, or economics, it is part of it, and you get what you pay for, or what someone else is prepared to pay for, which in most cases involves notions of class, individual good fortune, and a whole lot else.

    As I say my mum had Rheumatoid Arthritis, something that has been around for thousands of years according to the fossil record, as long as toothache for sure, but it has been subject to medical and social controls for only the last hundred or so. It is surrounded by as much quackery as autism or anything else, and I do not think medical science is much better. The course of my mums was relentless despite whatever operations she had, or drug treatments, I guess it was unavoidable.

    Finding out why you have something is not going to make a lot of difference to what you do with it, and a better test is no guarantee of a better treatment, all of it has to be taken together.

    As I say you can take any set of physical characteristics and call it a syndrome, we are all made differently and that is all there is too it.

    A body that can sprint, and a body that can climb mountains are not the same and both have there hazards. If one is optimised for a particular kind of activity, be that one is well physically disposed to sprinting, there is the likelihood that it has it’s disbenefits as well.

    Call it what you will but if you are only five feet two, and someone else is six foot five, you are different from each other, the disabilities come from design catering only for the people in between.

  12. shiva said,

    11 February 2009 at 16:51

    Your symptoms do sound a lot like EDS (or something in that spectrum) to me – however, EDS seems to be a very contested condition, with big arguments about where the “borderline” lies between EDS “proper” and “merely” hypermobility syndrome. For example, i have one friend with EDS who is *very* severely impaired – cannot feed herself or transfer out of her wheelchair unaided – who is adamant that no one really “deserves” to be diagnosed with EDS who can walk unaided over the age of 20. (I do have several other friends with EDS diagnoses – justified or not – who can still walk at least some of the time and are in their late 20s or early 30s, FYI).

    At the other extreme, i have had people seriously suggest that *I* should get diagnosed with EDS for having less than half of your symptoms. The debate is, i think, not so much whether a spectrum of connective tissue disorders with EDS-like symptoms exists, but what part of that spectrum the term “EDS” itself should be restricted for – which does remind me somewhat of the very ugly Asperger’s/HFA/LFA/PDD-NOS etc debates…

    I’d probably rule out Marfan’s on the basis of your height, since people with it are nearly always significantly taller than unaffected family members, and have quite distinctive proportions – like Beth, if she doesn’t mind me using her as an example. (Whether there’s a link between Marfan’s and the autonomic failure Beth has, i don’t know, and i don’t know if Beth does either…) EDS people tend to be shorter-end-of-average, IIRC.

    I am absolutely convinced that there is a link between neurodiversity and connective tissue disorders, as *every* person i know with either has at least some traits of the other. I very vaguely recall having seen something not too long ago about both being linked to “defects” on the same chromosome, but can’t remember where i read that or which chromosome it was. It adds (even more) fuel to the overwhelmingly convincing argument that autism is primarily genetic rather than environmental in origin, tho…

  13. fridawrites said,

    10 February 2009 at 4:49

    Andrea, I’ve been thinking about this and have read it a couple of times but don’t know that I have a very sharp answer. I am a zebra too so I understand the complexities and frustrations.

    What my spine doctor asks when considering a diagnostic test is whether information from the particular test would change the treatment; if it would not, then we don’t do it. And I think that’s reasonable with some conditions. If it would change the treatment–i.e., there are aspects you need to monitor/watch for, then the test is probably more helpful.

    With the geneticist, I would go for it if insurance covers to know for your children. Otherwise, again, I’d say it probably depends on whether the information would change what you or your doctor do. My rheumatologist was able to directly apply to the insurance co. for approval for a genetic test, and did receive permission for it.

    Your third paragraph down does sound like a connective tissue disorder.

  14. 9 February 2009 at 15:42

    Andrea,

    I thought hard before responding to this post, because I want to response to be useful, and yet your dilemma is rather a tricky one.

    Based on your symptoms and your response Lidocaine (?) I am guessing Ehlers-Danlos Syndrome, Hypermobility subtype (the old type III) http://www.ehlersdanlos.ca/localanaes.htm

    Unfortunately, this is one of the subtypes for which there is no genetic test. The diagnosis is performed based on clinical findings.

    It then becomes a challenge to find a clinician who is familiar with the syndrome. I first heard the term “Ehlers-Danlos Syndrome” from a orthapedist who examined my knee after a fall. I saw both a geneticist and a rheumatologist and the geneticist was on the fence (back then I didn’t know most people could not perform the kind “tricks” I could do, so I failed to do the whole circus monkey thing on demand). The rheumy basically took one look at me with my shirt off and effectively made the call right there. I found out later that she had experience with EDS before, which was lucky for me.

    If you do think you have EDS, the most important thing to do is get your heart checked (echocardiogram). Heart problems in EDS are not as severe as in Marfan’s but they do occur. Ask about a referral to a cardiologist. If your heart checks out OK, you may not wish to pursue the diagnosis. If any anomalies are found, then you got back to the rheumy and play ring around the rosies again.

    Or you can find a new rheumatologist. Unfortunately, I don’t know of any on-line resources that list EDS-savvy doctors in the US.

    Good luck

    OSM

  15. 9 February 2009 at 4:22

    I found you through an Aspberger blog and found your top ten list ofr Aspies to be hilarious. I have nothing to report but congrats on being a grandma and I sure hope you feel better soon. Your writing is fabulous.

  16. 8 February 2009 at 18:20

    I would go to a specialist and see if you can get a documented diagnosis of EDS, seriously. It would help to have it on your records in case the unthinkable happens and you have a cardiac problem– valve prolapse can happen with EDS– and having known EDS would probably help an ER staff determine treatment faster in the event of an emergency.

  17. lileia said,

    8 February 2009 at 15:04

    Hi Andrea,

    I can only agree with Bendy Girl on this one, get in touch with an EDS specialist if at all possible. As a zebra and a unicorn (I have both EDS and Chiari Type 1), my experiences of doctors tend to depend on how much they know about these conditions. If getting treatment with a diagnosis is problematic, I can only assume that getting one will be even trickier.

    There is also the problem that heritable connective tissue diseases are very heterogenous. I have been diagnosed with one type of EDS, but also have overlapping features of two other types. I have lens dislocations and aortic dilatation which are more common in Marfans. If I hadn’t seen an HCTD specialist, I’m sure most of these things would have been missed and I probably would have walked away with a diagnosis of HMS, CFS or fibromyalgia, if any. Getting an EDS diagnosis is bigger than just getting the diagnosis, it’s also important to have all the possible complications diagnosed or excluded and for that you definitely need an expert.

    Best of luck with your search.

  18. Kassiane said,

    8 February 2009 at 11:14

    If it’s EDS you can get by without a DX, though there’s adaptive Things that are nice to have. Ring splints for your fingers, other medical grade supports, physiotherapy-I <3 physiotherapy-stuff like that. Just to keep stuff still!

    In the unlikely event you had Marfan–and that seems ridiculously unlikely–then you’d need your heart really looked at.

    (now when they start suggesting Chiari I because you’ve got the neuro stuff and hypermobility tends to be associated, THAT’S when you back away slowly. That’s edging away from zebra territory and into unicorns)

  19. 8 February 2009 at 6:49

    Sorry Andrea, I have no idea at all but I hope that you are feeling more comfortable today.

  20. Big Noise said,

    7 February 2009 at 22:20

    No real suggestions here; just that I commiserate and understand the dilemma. It took 10 years to get a fibromyalgia diagnosis. I also have mild OCD and a reading disability that has never been diagnosed, but i cannot read aloud, all the words get turned around and a few new ones added to the text i’m trying to read. I have wanted to understand the exact nature of this reading issue, but am afraid to ask, for fear of being, the “woman who wants to have everything”. So, i rationalize and say, it doesn’t matter if it has a name… it just is, leave it alone.
    Cilla, aka Big Noise

  21. 7 February 2009 at 21:27

    Pain and stiffness is my daily bread, but at least I do not have rheumatoid arthritis like my mum, cos I reckon my worst pains were her daily bread.

    The problem with diagnosis is the inacuracy of the instruments and the reluctance to refer at all. I have had NCV and EMG tests that show certain nerves are f**ked despite operations, and that is the way it is. MRI’s at bog standard health service as against economically exclusive research resolution don’t show anything, the technology is there but not for peasants.

    Long fingers are the mark of elfinkind perhaps, the musicians blessing, but how many musicians suffer RSI?

    look at Seamus Ennis, have you ever seen hands like that, he is a gift from beyond.

    mine are not a patch on his

    Here is one for you, benign cramp fasciculation syndrome, if you have it you would want to question what “benign” means.

  22. Bendy Girl said,

    7 February 2009 at 19:35

    From what you’ve described and the photos I think you look more towards the Ehlers Danlos Syndromes than the Hypermobility Syndrome (www.hypermobility.org for diagnostic criteria, but essentially all it is is hypermobility plus symptoms) Are you in the UK or USA? For some reason I think you are US based in which case there are some EDS specialists you could contact via email to ask for advice. Try looking at http://www.ednf.org for details, but there is also a new book written by Brad Tinkle(r?) available on Amazon for about £13sterling. It’s well worth the price.
    As for how to go about the diagnostic process that does depend where you live, email me if you don’t want to put such details on a blog, the address is in my blogger profile.
    Hope that helps, BG x


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