Life with MS & EDS

August 3, 2011

EDS Confirmed

When Little Sister was diagnosed with Ehlers-Danlos Syndrome (EDS) the summer of 2008 I was very focused on what that meant for her and to a lesser extent me. One of the first things I did for me was try to find an adult doctor so that I would have someone following my progress. However, the doctor I found at the University of Pennsylvania said he disagreed with my daughter’s doctor and said I didn’t have EDS since my skin was not stretchy. This was despite the fact that I bend in ways most adults cannot. I can put my legs over my head, I can bend my thumbs to my arms, and I can hyper-extend most joints on my body.  I have a classic “cigarette paper” scar on my leg. Those were the most obvious thing, but as a doctor he probably should have picked up on more things.  A few months later I received my MS diagnosis and that has occupied most of my time from then forward.

That all changed during my CCSVI angioplasty this past March. After the procedure, I had what seemed to be a dysautonomia reaction when the sheath was being removed. That freaked me out a bit and made me focus on the EDS side of things again. Thankfully Dr. Sclafani had an EDS doctor to recommend. I called her and four months later got to see her.

I highly recommend Dr. Francomano in Towson, MD. That was possibly the best doctor’s appointment I’ve ever had, and I’ve had a lot of them. She had reviewed the 30+ page questionnaire I completed and the test results she requested. She did a thorough examination. She noted all of the things I expected her to find and plenty more. I learned that my knees go 20 degrees past straight, that the whites of my eyes are quite grey, that my shoulders have hypermobility, that my feet are flat (but only when I stand), that my pinkies extend past 90 degrees, many of my reflexes are 3+, and several other things. I learned that my crumpled ears are an EDS thing, too. She respectfully disagreed with her colleague at Penn and confirmed what I already knew; I have EDS.

Next I need to learn more about how to manage my health. To ensure she puts me on the right path, she ordered several tests. I need to do a Tilt Table study to figure out my blood pressure drop problems and the dysautonomia. I need to have an upright MRI to check my disks in the cervical spine while looking straight ahead and then looking down to see if there’s any disc damage that would explain the hyper reflexes. I need to do a sleep study to figure out if I’m getting enough REM sleep. Lack of REM sleep could explain my chronic fatigue and insomnia issues. I’m also going to get another echocardiogram to serve as a baseline. I don’t have the results of the one I had in 2008 and haven’t been able to track down the results. Lastly, I’m going to have orthotic inserts made for my shoes. Little Sister has DAFOs (actually she’s graduated to Sure Steps) that extend past her ankles, but the doctor thinks I’ll be fine with just a shoe insert. The hope is to keep my ankles from collapsing. Hopefully all of this won’t cost a small fortune!

One of the most interesting things to me was her interest in the connection between MS, EDS, and CCSVI. It seems that more and more doctors are starting to connect the pieces and looking outside of their small boxes.  Cardiovascular health has long been an area of focus for EDS doctors, but until now they have focused on the heart’s valves and arteries. However, if there are issues here, why couldn’t there be problems with the veins? Veracious veins are a known issue with EDS, so why not explore our other veins? It’s an exciting time to have these diseases. Hopefully doctors will start working together in an interdisciplinary way and begin to connect more dots. I’m so fortunate to have found doctors like Dr. Sclafani and Dr. Francomano who are the kind of people who will do just that.

Lesson learned: never trust a first doctor’s opinion. My MS diagnosis was delayed by 7 years and my EDS diagnosis was delayed almost 3 years. Go with your gut and continue to seek answers!

9 Comments »

  1. A first cousin of mine was told she did not have EDS because she hasn’t got stretchy enough skin, delaying her diagnosis by years. I read in a magazine yesterday in a response to a query about hypermobility that those with EDS have stretchy skin. Doctors that think this are ignorant and deserve a disiplinary process in my humble opinion as this probably means that patients who deserve appropriate treatment are left for years often in unnecessary pain with no answers of diagnosis. Can you tell it makes me cross.

    I think there is more research going on in the US thankfully at least some of it will get here eventually. I have EDS hypermobility type (formerly k/a type III) as does my daughter. I had severe varicose veins by the time I was 16, had surgery when I was in my early twenties, unfortunately I didn’t have the EDS diagnosis then and the scars from the surgery are awful! I was born with a club foot.

    I hope that now that this diagnosis has finally been made that you get the appropriate interventions as far as is possible. I would also suggest that you have a bone density scan.

    Sometimes I read MS symptoms and know I have many of them the crossover with EDS symptoms seem to be many to me. I wonder if there will ever be any connection found.

    Take care, I just don’t know how you manage both together. One or the other is bad enough but MS and EDS is just cruel. The fact that you remain so positive helps me out when I am feeling down.

    Comment by Achelois — August 4, 2011 @ 6:38 pm

  2. My 40 year old daughter was told she has EDS. Prior to that diagnosis she was looked at for MS at the MS clinic at Sunnybrook Hospital here in Ontario. It is in the family as my sister died at 42 from complications. She had the worst kind and was dead in ten years from the time she was diagnosed. My daughter had an MRI of her brain before going to the MS clinic and it showed significant brain atrophy. While at the clinic she was examined. She was told she didn’t have MS. She told the doctor she had brain atrophy and had the MRI disc with her. The doctor couldn’t get the disc to show up properly so dismissed it and said it was probably ok. That was that. She also has ‘Benign Essential Tremor’ and the tremors can be quite bad at times. Early this year she was diagnosed(?) with hypermobility type EDS. She is getting worse and more often now has trouble walking as her leg tremors are quite bad when she has a flare up. She can’t look after the 3 children so her husband has to stay home and consequently they are on Social Services (welfare)
    Isn’t possible the matter-of-fact

    Comment by Ina — September 20, 2011 @ 3:56 pm

  3. Hi Ina! I’m sorry to hear about your sister and daughter! Can your daughter get a second opinion? Has anyone checked her spine? That was part of the reason my MS diagnosis was so delayed. It was years before anyone said to check my spine and that’s where most of my lesions are. I’m not sure why doctors don’t check both the brain AND the spine! Also, I know this is a challenge in Canada, but that doctors are finally getting IRB approvals for studies, but she should try to find a way to get an ultrasound of her jugular veins to check for CCSVI (definitely something to Google if you’ve not heard of it. http://ccsvi.org/ is a good resource, too.) Some doctors are finally starting to look at the overlap and similarities in the MS and EDS populations. I wish more doctors would take on that research. I think they’ll be surprised by their findings.

    I think there’s research about brain atrophy and EDS, but I can’t seem to find the article I was thinking of at the moment. I’ll post it if I can find it. I know there’s a lot written about atrophy and MS. There’s also a lot written on it in patients with Parkinson’s. Studies are starting to see that Parkinson’s patients may also have CCSVI. I think it’s beyond time for doctors to engage in some cross-disciplinary studies and research.

    It looks like your post may have gotten cut off. I’d love to hear more of the story if you can share more.

    Comment by mseds — September 20, 2011 @ 6:30 pm

  4. Hello,

    First off, thank you for the article!!

    I am 21 years old and was looking at hypermobility type EDS for myself and became especially interested because my mom was diagnosed with MS a few years ago, but she has had EDS symptoms her whole life. Symptoms: sensitive skin (sensitive to the sun, bruises easily, soft skin), double jointed (despite never being an active person), flat feet (only when standing), fatigue, & I am sure I am missing other symptoms. I have only been reading about EDS for the past couple days. I am not sure what the next step is… We live in CO and I would like her to see a doctor about it.

    I guess I am looking for some advice/direction from here?

    Thanks,
    Maria

    Comment by Maria — July 26, 2012 @ 4:47 pm

  5. Hi Maria!

    That sounds a lot like me. As I kid, I could do back bends, etc. with no problem at all and I am so not athletic! I never could run, but I could do floor-based gymnastics! My experience has been that it’s hard to find a doctor who knows about EDS. The http://www.ednf.org website is a good place to look for names. Their annual conference is coming up. The way I found someone was to look through their speaker list! That’s how I found the doctor I love in Baltimore. It takes me 2 1/2 hours to get to her office, but it’s worth the trip! I couldn’t find anyone close to home who was any good. It’s even harder to find someone who knows about EDS and MS. If I can be of any help, let me know!

    Regards,
    Ivy

    Comment by mseds — July 26, 2012 @ 6:35 pm

  6. I was interested to find your journal. I am almost 50 and always knew I had “hypermobility syndrome”. My knee caps started dislocating when I was 5. Four years ago i was told what I had was actually Ehlers-Danlos, and that was recently confirmed. Now they suspect I also have MS. Over the years I have been told I had Lupus, or something Lupus like, mixed connective tissue disorder, the list goes on. The specialist I saw recently commented on the hypermobility of my neck and spine. I am just feeling so overwhelmed with it all. I am waiting to see a neurologist, but with wait lists it may be spring before I see one.

    Comment by Teresa Cavanaugh — November 30, 2012 @ 12:13 am

  7. Hi Teresa! Sorry to hear about your roller-coaster-like ride. So many of us have had the same experience. I hope you are able to see a neuro soon! They are so difficult to get appointments with and finding the right doctor is it’s own roller coaster experience. I’m on my fourth and still don’t think he’s the right match for me. Finding an EDS doc was a challenge, too, because there are so few of them, but I LOVE the one I found, even though she’s over two hours away from my house. I wish the medical field was organized in a more collaborative way instead of all these disease- or body part/system-specific doctors. I think so much of this is connected and that each doctor only focuses on his/her part of the puzzle. It’s frustrating. Hang in there! I hope you get some answers!

    Comment by mseds — November 30, 2012 @ 7:24 am

  8. I’m sorry to hear you have 2 diseases on your plate, but I can relate. I’ve been in debilitating pain since 2001 (lost my life to it at 27) and was finally (mis)diagnosed with fibromyalgia in 2003. First thing ruled out was MS; strange. I had vasculitis in 2010 and since then developed really typical EDS symptoms, not that I knew that. I kept pointing out my veins showing up everywhere, spontaneous bruises and black eyes, and even though one doctor already noted my hypermobile joints, he dismissed everything (I even brought photos of my splotchy skin).

    Then, in late-2011, I started to lose my vision and went through this mess again of a misdiagnosis, then off to this specialist and that specialist, and so on. My optometrist finally diagnosed me with keratoconus, a progressive corneal disease that can occur in EDS patients since the cornea is primarily collagen. Please look it up and remember it if you have EDS (or go to my blog if really bored). I had a new surgery to halt the disease via a clinical trial in L.A., but lost a lot of vision that I can’t get back due to how rapidly it advanced and the doctors who didn’t diagnose me in time. I can use the internet thanks to the zoom option in Google Chrome, btw.

    The silver lining is that I researched all I could before my surgery, which was not easy with my vision, and came across the connection between keratoconus and EDS. I saw a geneticist recently and got a clinical diagnosis of EDS (awaiting testing on Type IV due to venous pattern). Most likely I have Type II with weird veins (I hope). Just trying to spread the word and best wishes to all dealing with EDS or multiple diagnoses (and misdiagnoses)!
    Alisa

    Comment by playingthehandiwasdealt — January 15, 2013 @ 5:15 am

  9. Thanks so much for sharing your story! It stinks that we lose so much time when doctors don’t know enough to make the right diagnosis. What did people do before the internet?! I’m so grateful to be living in the Information Age where we can reach out to strangers who are more like us that we could imagine and where there’s a wealth of information out there for those in search of answers. Thanks again for sharing!

    Comment by mseds — January 15, 2013 @ 8:19 am


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