The Chronic Constellation

elephantClipFasten your seatbelts and settle in with a snack again, you’re in for another long ride, smile. (I’ll try not to make it too bumpy!)

Hopefully you’ve heard of “The Trifecta” by now – that is, the relatively common trio of issues we find comorbid in the Ehlers-Danlos community of any form of EDS (or the newly recognized subclinical diagnosis of Hypermobility Spectrum Disorders since March 2017) plus MCAD in any form (either Mastocytosis or Mast Cell Activation Syndrome) and finally POTS, which is a subset of Dysautonomia which all have to some degree. Dysautonomia that is, not all have POTS specifically.

Some will have the Hyperadrenergic variant of POTS aka “HyperPOTS” and others will have other forms of Orthostatic Intolerance, and all other variations of dysautonomia you can describe.

I personally consider most POTS and all manner of “Dys” to be the likely “love-child” of having weak connective tissues lending to flaccid veins & weak valves (lending to blood pooling in the lower extremeties) and stretchy bladders that help you pee out more than you take in thus lowering blood volume, and the effect of Mast Cell mediators rampant in our systems which lends to vaso-dilation and lowers blood volume further from third spacing and angioedema. Among other things.

Toss in a little neuropathic or neurogenic trouble from cranio-cervical settling and instability impinging our brainstems and other bits of our neurology (impinged vagus nerve making you vomit, anyone?), and of course we struggle to regulate our breathing, heart rate, blood pressure, temperature, motility and more.

I rarely meet anyone who doesn’t show signs of either of the other two “legs” of The Trifecta once you drill down far enough and acquaint them with the other sides of the triangle. I know there’s a small camp that believe some POTS and dysautonomia is primary and autoimmune driven, and that may well be in a small subset. But not in the majority by far with EDS in my unscientific observation.

Most just haven’t recognized enough other signs of EDS and /or MCAD yet to realize what’s really driving the dysatuonomia. And yes, autoimmune diseases are commonly comorbid in us also, but hold that thought!

I often find the reverse to be true as well – people who identify as “just” having either Mastocytosis or MCAS (forms of MCAD) will often complain of all the signs and issues that go with both mild EDS of some kind, plus mild POTS or dysautonomia. But if they aren’t yet aware they won’t recognize those other two players.

And finally many EDS patients later find out the hard way they also have a form of MCAD and also various forms of dysautonomia once they get into the support groups too if they haven’t been told already.

The body can only express itself in so many ways with weak connective tissue.  So these are apt to be common experiences and most of the milder forms have been quite well “normalized” as fibromyalgia or just being a bit weaker, quicker to fatigue or low energy. Many are diagnosed with Chronic Fatigue Syndrome, a misdiagnosis in my opinion for most. (Not all.) And my favorite: “just depression“, especially if you’re female. (Like that’s a minor issue either, sigh.)

No, this is no cake walk. And managing The Trifecta alone is a major undertaking for most who have become clinical enough to be diagnosed with any part of it. It is downright show stopping for too many, especially those with increased cranio-cervical instability lending to the issues. My heart goes out to all of you! I only had a bit of CNS Apnea making me forget to breathe from mine at my worst thankfully, knock wood quick! I do still get brain juice headaches and have increasing photophobia and hyperacusia but it’s more manageable than many.

The Elephant Project has been discussing this for years over on Yahoo, among other things. (I can’t keep up with all the forums currently though I try my best.) There are some really smart people there circling the same hill or drain many of us have, trying to find an answer to why we enjoy so much trouble.

But wait, there’s more! You didn’t seriously think that was all I was going to share of something I’m calling “The Chronic Constellation” did you? Did you?? Ah my dear Alice, we have not only not hit the bottom of our rabbit-hole yet, but it has more rabbit-holes attached to explore, and a whole feral pack of Cheshire Cats to deal with!

This next bit is even more poorly correlated to date, so it comes as more of a surprise to my support group attendees than the above Trifecta. But every single person in the room ends up owning up to experiencing or having a family member at the very least with one or more parts of this Second Trifecta no one speaks of very often yet (hold that thought too):

Autism Spectrum

Everyone I meet with EDS seems to either be on or at least related or even married to someone on the autism spectrum. I’m including the former diagnosis of Asperger’s which I’m well aware the DSM-V did away with in the US in 2013. Most Aspies still self-identify as Aspie though, and likely will continue. I now consider myself a very likely Hidden Aspie, or so-called “autistic cousin” and see many signs in my late family in 20/20 hindsight though none of us ever got suspected or diagnosed.

And I only suspected myself after 3 different people in my support groups asked me if I was Aspie first mind you. It’s increasingly obvious to me the more I learn about it though. Pardon, my Aspie slip is showing!

Conversely, since befriending several Aspies and autistics and autistic cousins in the local Aspie support groups this past year, I’ve found the reverse to be true as well: almost all showed signs of bendiness (hypermobility), and complained of many of the same health issues I’ve had all my life including heavy allergies or at least sensitivities among other things. (Autoimmune diseases, fibro, IBS, more.)

This is turning into one heck of a coincidence in my book and I’m dying to see a study correlating hypermobility and autism. (You heard it here first folks! Yes, I’ve tried contacting Temple Grandin and others on this, but no bites yet. Stay tuned and please apprise me of any inroads you see yourselves on this.)

I also find the following neuro-psychiatric constellation really common in our group as well, on the spectrum or not: anxiety, depressive disorders, ADD/ADHD, OCD, SPD, PTSD, mixed mood disorders, Bipolar, Borderline Personality Disorder, Narcissistic Personality Disorder and any and all variations thereupon you can find. Dual diagnosis anyone? Try “Hexa diagnosis” in some. And no, I’m not kidding, they’ve voluntarily shared their diagnoses with me in some cases even without my asking.

We really must stop trying so hard to classify people into single boxes with our short sighted views; further, I’ve personally observed people’s conditions and mental health and neurology to change over time – and diagnoses to change or resolve, frankly. Yes I speak from experience in at least one case.

Of course, we are often quite loathe to admit to any of this not only from the social stigma all too sadly attached to having mental illness of any kind despite how common it truly is, but because way too many of our doctors proceed to write off all of our very real pain and physiological issues to “just anxiety” or depression, sadly. I’m now deeply convinced the HEDS population is the reason I keep hearing “depression causes pain”. It doesn’t. It comes with a lot of pain folks! Wake up and validate our pain!

Primary Immunodeficiency (aka CVID)

I had never heard of Common Variable Immune Deficiency until a fellow zebra (EDS patient) got diagnosed with it in my local support group in 2012 after I suspected her of having MCAS. The doctor she saw did not recognize her MCAS (he only recognizes Masto yet) but did suspect her of CVID. Upon investigating it, I realized this was also a very common presentation in our large online support groups.

Further, I recognized mild signs of it in my own family once again. I myself got sick a lot as a child, and with strange odd bugs that no one else in school got like croupe (but somehow not Chicken Pox until college – go figure!) My dad was discharged early from the army during the Korean war after ending up in a medical coma when he succumbed to scarlet fever and either measles or mumps – I forget which, and maybe both. (They gave him the option of early honorable medical discharge once he recovered and he took it.)

I found myself prone to lots of lung bugs and infections in later years catching anything that had ever passed through any new house or office I entered. I did manage to shake off all my bugs in a decent amount of time. But I do still catch any virus that even looks at me and have a chronic case of blepharitis (eyelid infection) I still can’t shake even with bacterial ointment. My 23andMe data shows my IgE and IgA systems to be thrashed according to one analyst, though I don’t count that as a diagnosis.

I’ve seen many in the group end up on either Meyer’s cocktails or IVIG infusions. And every time I describe this in our support group meetings, others immediately own up to either being diagnosed with it, or related to someone who should be diagnosed with it if not already from the description. (Oh that’s why we’re sick so much and so often!)

Autoimmune disease of any and all kinds. (Seriously.) 

No, Ehlers-Danlos Syndrome itself is not autoimmune. But, I’m finding it is really commonly comorbid in people with any and all forms of autoimmune diseases. Or vice-versa, if you prefer. No, not 1 to 1 yet, but at an anecdotally awfully high rate. Yes, this was a shock to me! I kept thinking “oh those poor souls who happen to have both issues”, until I became one of the very few I found who don’t yet besides some osteo-arthritis which I’m not counting as it’s sort of defacto in us.

I do have the factor (HLA-B27) for Ankylosing Spondylitis, a form of autoimmune spinal arthritis which runs in my family, but it has not developed yet in me knock wood. My dad called it “Marie-Strumpell Disease” and spoke of receiving deep x-ray therapy for it back in the day – no kidding! My parents were born in the 1920’s and were 40 years old when I hatched, so they’re the same age as many of my colleagues’ grandparents, yes. Whence the very outdated disease reference – and treatment – no one but me has heard of! Story of my life.

But I have been checked for it more than once through the years and so far I am negative for it, thank heavens. I of course suspected AS first based on family history and my early onset lower back pain before I ever knew about EDS. Trust me, I’m happy to be negative – I have plenty else on my plate to manage already! That said, I now really appreciate my elderly aunt Kathleen’s incredible strength and grace making it to 92 (so far) with all of the above, albeit not all diagnosed. She did have her AS diagnosed, along with spinal stenosis, herniated discs, sciatica and more, just not EDS.

That said, I’ve been following some of the best functional medicine doctors and health coaches on the web the last three years (Carnahan, Myers, Hyman, Lynch, Yasko, Trudy Scott, Mike Mutzel, more), and am increasingly convinced that all the autoimmunity is the likely result of chronic inflammation the combo of a weakened immune system allowing chronic infection (CVID), and our over active mast cells which fire off much too easily and often. Like a war-weary veteran, our poor overworked immune systems start engaging in “friendly fire” if you will, firing off even when they don’t need to at the least provocation, and upon “self”.

Toss in some likely common leaky gut from weak epithelial tissues and dysbiosis from weak ileo-cecal valves and I got your autoimmunity right here. Avoid gluten folks!

That said, I’ve just recently learned that apparently autoimmune disease can then trigger mast cell activation in return, forming a sort of vicious cycle of inflammation. I’m still trying to wrap my brain around this but have a friend who can speak from first hand experience. Hey, I’m not an immunologist (or any species of doctor or scientist, just a well-read somewhat smart and pedantic patient), so I’m doing my best here! I welcome sources for that in the comments if you can throw me some. (September 2016 – still waiting, smile.)

I usually share this slide at my meetings (sorry the top got trimmed a bit):

TheChronicConstellation

But wait there’s more.

What? Are you kidding me?? Are you just attention seeking and picking stuff out of a hat to list now Jan?? Aren’t two “trifectas” enough trouble for more than two lifetimes?

Oh how I wish that were true dear readers, trust me! No, you’re getting the fruits of a semi-photographic pattern-seeking (likely mildly Aspie) brain. Plus, if I were just picking disease out of a hat for attention, I’d be laying claim to having all of these things myself, and I’m not. But I personally know way too many patients who do have a majority if not even signs of all, poor souls. Or all occurring within their family at least. Seriously. It’s heartbreaking to watch, I promise.

We’re all in many ginormous Facebook support groups together, plus some others are on Inspire, some with upwards of 12,000 members, so I have a large data sample to pull from – more than almost any doctor I know of who’s not also in the groups with me! 

All you doctors have to do is start checking your patient’s histories more thoroughly – and you’ll see this pattern too, I promise. I’ll even wager my currency of choice: dark chocolate, smile.

Not only are the above two trifectas common, but mitochondrial diseases and disorders are also quite common in us too, no kidding!

As well as any and all forms of endocrine imbalance, especially thyroid (high or low), but especially low, and often autoimmune Hashimoto’s Thyroiditis. (No surprise!)

I honestly can’t make this stuff up folks – I wouldn’t have known where to begin. I’m just reporting from the field as it were.

Some functional medicine doctors think this latter may be driven by a cross-reactivity to gluten. Apparently our thyroid protein looks like gluten, which may look like bacteria coats to our immune system, sigh – hope it tastes as good as we autolyse ourselves! But whatever the reason, I’m sorry to say it is very common, as is its opposite: Graves disease, the autoimmune form of hyperthyroidism (overactive thyroid).

Ironically I just learned that hypothyroidism in pregnant moms and newborns may lend to autism by altering neurological development, no kidding! That could sure explain a subset of our group right there! (More exciting – treating it in mom pre-conception can help prevent that altered neurological development!) But I’m sure that’s not the only driver of autism. Nor of hypothyroidism.

And leading MCAD specialists Dr. Theoharides and Dr. Afrin both posit that mast cell activation at least partially drives autism spectrum behavior, either directly via neuro-inflammation altering your function in real time (loss of speech anyone? So common with our reactions), or again, during our natal brain development altering our neurology. So there are increasing explanations for this huge package of issues and behaviors we exhibit that I bet are going to hold up over time. (You heard it here first!)

This is why I’m referring to this cluster for the moment as The Chronic Constellation. It’s also really late and I’m out of bright ideas and catchy names. This is not an official term – just a quick hook I thought of to hang it on, since it’s more than a Trifecta, and “Hexafecta” doesn’t quite roll off the tongue as well, nor cover it all. Plus, there’s even more to it.

But I’m stopping there, as I want to share that I’m not the only one to be observing this particular Constellation of chronic issues in an apparent familial pattern. It turns out those smart folks over at The Elephant Project and a fellow patient who also happens to be a doctor also noticed the same thing, and started drilling down and finding some possible genetic causes for this involving the RCCX complex! (First shared Monday February 15, 2016 in one of the Facebook MCAD support groups I’m in by Sharon Meglathery, MD as far as I know.)

This is brand new information, and not at all verified yet. Dr. Meglathery who is bravely putting it forth is wisely seeking scientific backup through as yet unfunded and unperformed research. (Not for lack of effort on her afflicted part.) But I think her hypothesis holds a lot of promise.

But if this observation and hypothesis holds up, we may have the answer finally to why we can’t find a single genetic collagen defect underlying the majority of cases of the most common form of Ehlers-Danlos, the Hypermobile Type. (Aka hEDS) And further, why some are not at all or not very bendy with it, despite having all the rest of the trouble above, thus lending to the new Hypermobility Spectrum Disorders newly recognized since March 2017.

But even if not, I feel strongly these people are pushing the ball down the field and the constellation we observe definitely holds for whatever reason. I’m not the only one seeing it anymore, and that makes me feel better! In fact, Dr. Meglathery’s RCCX hypothesis is getting great reception in the support groups so far – it fits so many of us!

So don’t take my word for it, but stay tuned. I’ll of course keep everyone posted on any new developments I learn as I learn them. Follow me on Facebook or Twitter for the latest information at at all times.

 

Jan (droid) 3.0

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22 Responses to The Chronic Constellation

  1. Cheryl says:

    Right on Jan!

  2. Angie says:

    Excellent read, thank you for this. Makes good sense to me: Myself and my two sons have EDS HT, eldest son has A.S.D. (Aspergers)..also Tetralogy of Fallot, youngest now has Coeliac disease. I was diagnosed with severe M.E. for a good part of my life before got EDS diagnosis.

    • Jandroid says:

      Thanks – glad it’s resonating with you, though sorry for the painful journey of course. That said, I think we’re starting to hone in on the drivers of it all slowly but surely. I’ll say this much, reducing your inflammation and supporting yourself with nutrient dense organic foods will only help. Cheers.

  3. Shelley Thomas says:

    Jan, you are Awesome! I learn so much from you. I shared your article with my FB friends too. Thank you!

    • Jandroid says:

      Aw thanks! I try 😉 I’ve been basically channeling everyone’s complaints in the large groups and assimilating them for the last four years. Not too surprised it’s resonating with folks. Thanks for sharing!

  4. pat wallwork says:

    It is a slow journey for sure. In my thirties I was diagnosed with hypermobility and fibromyalgia. At some point after that they said one of my blood tests came back with thyroid antibodies. I have ‘known’ myself for a long time that I had issues with connective tissue, blood vessels bleeding spontaneously, and the ‘most’ Cambell de Morgan? spots the skin people had ever seen, and the un-diagnosed fatigue. But from a generation that hides quite a lot as you dont ‘look’ ill and people think you are a malingerer if you mention your pain. And now with hindsight, I am probably an aspie. certainly got a lot of the ASD traits. Despite this I know I must be way above average intelligence, did a ‘hard’ degree with 3 young kids, and top ten of my year. All for what? been on the periphery of the job market due to trying to work round the periods of physical exhaustion and planning my day after I get up in the morning and see how I am feeling. for curiosity, I now have osteo arthritis, with osteopenia, spine has compressed and I was 2 inches shorter by the age of 60 where the normal limit is an inch and a half by 70. Had the usual lower abdominal stuff that women with EDS can get, prolapses…. And now possibly all linked? Thank you for doing all the research, own GP says no point in getting a diagnosis as it wont be treated!

  5. Jandroid says:

    Sorry for your journey, but welcome to the “family” (Clan Dumpty, right?) smile. That said, I do feel it’s still worth getting diagnosed, though maybe not urgently in your case, as we need to have all these conditions recognized. No, they won’t know “the Consteallation”, but this is why EDS is going so undiagnosed – it’s being written off and swept under the rug.

    But I totally get picking your battles also. And, there IS a little you can do about it – I’m proof of that. No, no cure, but I’m on a daily supplement protocol that’s keeping me walking and even moving some boxes again and without gasping like a fish in pain – or not as much.

    Anyway, glad you can relate and find some answers, though sorry it’s so, as it means you’ve suffered plenty in your life, recognized or not.

  6. Jenny Islander says:

    H-O-L-Y C-R-A-P

    I used to roll one or both ankles, like every summer. Finally, in desperation, I took bellydancing, which basically gives you ankles of steel. I was the only person I knew who could lotus, the only one who could put her hands flat on the floor even after age 30 and roll up to a standing position vertebra by vertebra. All this even though undiagnosed, therefore untreated, Osgood-Schlatter made kneeling for more than a few seconds incredibly painful!

    Now, I have permanent ankle pain and swelling due (get this) to pregnancy. Even though my youngest is now in school, it will never leave me.

    My mother had ankle issues. Two of my daughters have ankle issues. One has issues in all of her joints, with weird migrating pains and ankles that look like this: > instead of like this: I. The other one is currently “just” a pronator, like I was, and is also on the spectrum at about the same place I am.

    Ho-lee crap.

    THANK YOU for this.

    (Oh, multiple diagnoses: ASD (no official diagnosis but when you can check pretty much all of the checkyboxes y helo thar), DID (resolved), PTSD, C-PTSD, and depression. Also ACOA.)

    • pat wallwork says:

      weird migrating pains – so familiar, it was like having a bug that wandered round my body gnawing away joint by joint. Once it left a joint, it settled for very long periods before flaring up again, hips, elbows, wrists, shoulders, fingers….. I particularly remember being asked out to a small gathering with a friend, and could not hold a knife to cut food…

    • Jandroid says:

      You’re welcome Jenny, though sorry you’ve also had to suffer so. But it is nice to be finding answers finally eh? You’ve found “your people”. 😉

  7. Jandroid says:

    You guys! The RCCX Project can now accept donations to help fund the research needed to validate Dr. Meglathery’s theory about this complex possibly driving this “Chronic Constellation” (my term, NB) here now – please donate but at least share far and wide in any case, thanks!

    http://www.rccxproject.org/

  8. Mark Moeglein says:

    I am certainly one of those elephant/zebra/Aspies out there and would love to be involved in the research. I suspect that there is a leg of all this related to the BH4 cycle and MTHFR A1298C, especially on the MCAS/neurological side of things. Unfortunately, I lost my job, so I can’t fund anything unless I get some disability love at some point!

    • Jandroid says:

      So sorry to hear about the job loss Mark! (Boo) But yes, I think the MTHFR defects end up amplifying much of our trouble, though I don’t believe they directly cause “EDS”, but lend to trouble detoxing etc. and possibly increased MC Activation as per Debby McQueen’s theory at http://mthfrheds.com. (I.e, I partially agree with her, but per her logic that it causes it, if all with MTHFR had EDS, then over 40% of the population would have EDS and even I don’t think that’s true, smile.) But again, I definitely agree it’s an amplifier and lends to our trouble. (I think of EDS as more of a spectrum myself, much like the comorbid autism it often comes with. If I could just get doctors to quit being quite so binary/B&W in their thinking too, I might get that across.)

      At some point Dr. M will be seeking participants outside of AZ. I’ll definitely keep folks posted when that happens. You can also get in touch with her directly at info@rccxandillness.com. Meanwhile, just share the project link for us so others can donate, thanks! http://www.rccxproject.org/

  9. Laurence E. Badgley, M.D. says:

    UNIVERSAL THEORY
    The brain transducer connects mind and body via the Autonomic Nervous System
    (ANS), which has neural tracts from brain to endocrine glands (hormone secretions), organs (heart, lungs, intestine, bladder, etc.), and immune tissues (intestine, spleen, bone marrow, etc.). Autonomic nerves are a spiderweb-like array of neural tracts that are stretchable, bendable, and impinge-able; all deformities expected to modulate the function (electromagnetic messaging) of these neural tracts; even absent cell death. Autonomic nerves transit thousands of joint spaces, ostia, foramina, bony prominences, and tight spaces between bones, such as occurs with TOS.
    Hypermobile joints might be expected to disrupt normal balance of ANS messaging systems, i.e., cause Dysautonomias, and to disrupt physiological functions of end organs and tissues these nerves enervate. For example, a bendy spine (functional scoliosis) is a normal morphologic concomitant of Hypermobility Syndrome; wherein body mass is impressed under force of gravity. Numerous autonomic nerves transit vertebral spine subluxations within a spine beset with scoliosis; perhaps an etiology for a Dysautonomia called Gastroparesis. There is no evidence that mast cell and other tissue and end organ dysfunctions are more than secondary effects of a primary genetic disorder of Hypermobility Syndrome. When the activities of physiologic feedback loops are contemplated within the myriad of neural, hormonal, and biochemical systems of the body there should be little surprise that widespread mental, behavioral, and physical disorders are evoked as result of an unstable musculoskeletal system.

    • Jandroid says:

      Interesting perspective to add to the mix, however I think it’s truly a combo of both such biomechanical (X) drivers AND biochemical (Y, aka MCAD) drivers of all our issues (including gastroparesis). I say this from personal experience as a patient who has peeled back a couple of her own onion layers and gotten improvement on some issues (e.g. motility) just from treating MCAD alone. Leaving me with the remaining hypermobility to explain much of the rest, yes. I don’t doubt the ANS runs far and wide, and is impinged and disrupted far and wide in the hypermobile patient as you describe. (My vagus nerve seems to be spared more than most, knock wood quick!) Thanks for the input Dr. B.

  10. Andrea Nero says:

    Fantastic post, thanks for all you do. Also, excited about what the RCCX Project will yield.

    • Jandroid says:

      Thanks – me too! Though alas, the underlying genetic anomalies that *may* drive this are proving so complex that even Dr. Meglathery is struggling to get any researchers to “bite”. Still…

  11. Wow, wow, and wow again. I have so much to say about this that I’m kinda speechless. I’m sure staying in this loop! Can I day Wow again?

    • Jandroid says:

      Lol – yes y u may! If you said “Wow wow wow!” I’d think you were quoting Alice in Wonderland 😉 (From which that comes.) Anyway, happy to have you “in the loop”.

  12. christy says:

    This was very eye opening to read! My grandson was just recently diagnosed with EDS 3 hyper-mobility type. The more I am reading and learning I am certain there are many more in the family that should be checked.

    My son (father to the child with EDS) was diagnosed with JRA as a young teen around age 12.

    My other son was diagnosed with heart murmur issues and tachycardia, thyroid problems, pre-diabetic, sensory integration dysfunction, auditory processing disorder.

    My youngest daughter was diagnosed with autism at age 4, wore AFO leg braces at age 4, diagnosed with sensory integration dysfunction, bladder spasms, reoccurring bladder infections, seizures, bruising without any reason, ataxia, anxiety, for a few years followed her for possible MS but they ruled that out, now sending us to neurology at university hospital for chronic migraines , she has problems with her hips dislocating, neck popping, knees popping, chest pain for no reason,sensitivity to lights, asthma as a child still breathing issues but they say no asthma, the list just goes on and on… she has had to quit all her extra school activities because shes so exhausted needs a nap everyday!

    Me Ive been fighting joint pain for 25 yrs hip pain, pain in fingers, ankles locking up, ankle pain, i do seem to be bendy bending pinky finger back over 90 degrees, can touch thumb to forearm and knees bend back ….. i too was in leg casts as an infant but i have no clue why and my mother is no longer with us to ask, i developed osteoarthiritis at around age 43 in my knee. Some areas of my skin are very stretchy too.

    Husband was born with auto-immune disorder hypogammaglobuliemia, IgA deficency, has heart problems, lung problems, pulmonary Embolism, stage 3 renal failure, and Early onset alzhiemers also had two knee surgeries when he was 16 to 18 and told at 18 he had arthritis, GI problems, lactose intolerant…. he is totally disabled at age 52 and they have said hes terminal.

    I have always said there just has to be some how that all this is related genetically with what the kids have. Doctors just tell me oh its just how it happens and just brush me off. It is so frustrating to not be able to find out what my daughter truly has… which im very sure its likely EDS. Reading your post gives me hope to keep going. Thank you!

    • Jandroid says:

      Glad my post could help you connect some more dots for your family Christy – I like to say we’re not losing our minds, just our bodies, heh. That said, the irony is, this isn’t rare, it’s just rarely recognized yet, because it IS so common (I’m guessing at least 1-2% maybe more, but have no data to back this to be clear) that we have all “normalized” it. Which is why your doctors did/DO brush you off with “oh that just happens”. Because in their eyes, it does!

      Alas, they also tend to only see and diagnose the autoimmune diseases and grosser immune system issues as those are more easily measured with biomarkers. Often missing the forest for the hypermobile trees! EDS is NOT autoimmune to be clear, but I think the RCCX hypothesis *may* explain which it is so commonly comorbid. (May.)

      Now, will we ever find a cure? I doubt it. Nor am I convinced we should: this is a huge complex and maybe the result of our current environment on our DNA, who knows. And we definitely shouldn’t stop mating. (I’ve totally forgiven both my late alcoholic parents – they didn’t know, and besides, my life isn’t over – it’s just different than it used to be, right?) But I think it’s nice to know you’re not alone in experiencing so many seemingly unrelated issues all in the same family if not also the same poor body sometimes. Trust – and heal – your gut! Good luck. x

      PS Do be sure to read up on the BRAND NEW (as of 3/15/17) diagnostic category of Hypermobility Spectrum Disorders for those who are too subclinical too be diagnosed with hEDS or any other form:

      http://ohtwist.com/hypermobility-spectrum-disorders/

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