"Suffering the Slings and Arrows of Outrageous Fortune"

Our Story

Our Story, Just One of Thousands

Our EDS story is similar to countless others:  My husband, son and daughter were all born with Ehlers Danlos Syndrome but had no idea they were living with a potentially debilitating connective tissue disorder. In Emily in particular, we noticed the extreme flexibility, clumsiness, strange injuries and nightly leg pain at a young age, but our vague concerns were dismissed by the doctor for years as growing pains and so we just carried on. In September 2009, we got a clue we could not ignore and thus began our journey.

The Prologue

On September 8, 2009, my 10 year old daughter, Emily, blithely went to gymnastics, excited because we had finally caved and were letting her train to join the competitive team. During warm-ups at the beginning of class, she did a simple handstand and her patella dislocated – a very unusual superior dislocation. X-rays and an MRI revealed no damage, but we were still in the dark as to why a 10 year old would dislocate her knee with absolutely no trauma. Her casual admission that she had dislocated both knees several times previously was baffling.

It Was All As Clear As Mud

Her physical therapy evaluation shed some light on the situation – we were told it wasn’t just her knees, all of her joints were extremely lax and at risk for dislocations. No label was given to explain her symptoms and I was even told it couldn’t possibly be EDS when I brought it up. Joint preservation was emphasized and  we were told competitive sports needed to be avoided. The idea of no more gymnastics was devastating, but we had hope Em could at least do gymnastics for her own enjoyment. Sadly, since the day of her knee injury, she has never been able to get back to gymnastics.

The ‘big’ dislocation was the beginning of a downhill slide – she was eventually dismissed from PT because of increasing hip and back pain. Both knees continued to dislocate and with increasing frequency. Her fingers began to dislocate, while playing guitar or typing. She struggled with pain, fatigue and ongoing injuries but did her best to live normally while no one had a clue what was wrong.

Hitting The Wall

In May 2010, we went to the zoo with our homeschooling group and she walked around all day. The next day she was in excruciating pain and was actually bedridden for a few days. She could not take a step without crutches. We knew something was terribly wrong and starting researching again. It didn’t take long (about 10 minutes into a serious internet search) to realize that indeed it was Ehlers Danlos Syndrome. While she continued to get worse and battled pain and fatigue and constant dislocations, we started the journey to get an official diagnosis. It also became very evident that my husband and son also have EDS, although neither of them are severely affected by the condition.

It is Always Darkest Before Dawn

In August 2010, as we were waiting to get to a specialist to get a diagnosis, the dysautonomia symptoms started and were absolutely devastating, leading to a rapid decline. Em ended up in a wheelchair after severely injuring her foot, resulting in RSD. (Sadly, the wheelchair was not temporary – more than 2 years later, she still has the wheelchair and eventually got a scooter). Then the neurological symptoms started and the frightening downward spiral accelerated. She ended up spending several miserable months in a darkened bedroom – severe headache, dizziness, orthostatic intolerance, severe light and sound sensitivity, and nausea. She lost weight and I felt like she was slowly slipping away from us. We started thinking Chiari and/ or cervical instability and knew surgery was likely.

Finally, A Diagnosis

After seeing several rheumatologists, we eventually got to Dr. Tinkle, a connective tissue expert and true EDS expert, at Cincinnati Children’s Hospital. Almost a year after I determined Emily had EDS, he diagnosed her with the Hypermobility Type of EDS. Getting to Dr. Tinkle and getting a diagnosis led to referrals – some helpful, some not so much – and it was the beginning of painfully slow improvement.

And Some Hope…

Since then, her pain and poor sleep are successfully being addressed and we have found a way to address the Neurological and POTS symptoms that hopefully allows her to avoid surgery. In June of 2011, I Providentially found the Driscoll Theory and, after much drama and angst, got effective treatment for this debilitating constellation of symptoms.

We have a host of doctors – a geneticist, a pain management doctor, an allergist, a GI motility specialist, an orthorpedic doctor, a neurologist, and a pediatrician… and there are a few more that would be helpful to add to that list. Our medical team is a work in progress, but it is one of the main reasons we have made progress over the last couple years. We have fired some and replaced them – we have a couple who need to be fired but, on the whole, we are finding our way with these professionals.

Step by Step

Piece by piece, we have painstakingly gathered the answers to this amorphous puzzle called EDS. The right medication, a helpful and compassionate doctor, a casual mention on a forum… each is a crucial piece in the puzzle. And with each piece in place, our understanding grows. We are slowly getting a grip on this vicious thing that attacked our daughter and are working hard to beat it.

She will still need ongoing therapy and face the unavoidable challenges associated with EDS – it is, after all, an incurable genetic condition. The neurological issues are being treated, not cured and will likely always plague her.  There are so many co-morbid conditions that we are now dealing with: mast cell disease, gastroparesis, vitamin D deficiency and maybe more yet unknown. However, we now have hope for the future whereas for much of the past couple years, we had precious little hope.

The Reason I Write

I originally started this blog, in 2011, at the very beginning of our lowest point, to record our journey through the dark times I knew were coming, so I would have a place to not only note her symptoms but a place to vent, to say what I could not say out loud to my loved ones.

I now feel incredibly blessed that we found real answers and effective treatment for the worst of my daughter’s symptoms. In many ways, this blog has morphed from a place to record my despair to a thankfulness journal and a platform to share as much information about the Driscoll Theory and our other successful treatments with as many people as possible – to encourage others who are travelling the same path my family is.

Our experiences are nothing special – countless families living with EDS have nearly identical issues.  The real blessing of social media and blogging, is that we can learn from each other and support each other, and make the lives of our kids better. I deeply appreciate anyone who reads and comments and I love hearing about your experiences and thoughts.  If you would like to start by reading the first post, start here: Welcome to our life or you can use the Tag cloud, archives or search bar to search for specific information.

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Comments on: "Our Story" (41)

  1. Mollie said:

    Thank you for sharing your struggle. Since Jan 4 10 I have been trying to help my child who was very athletic until an episode of anaphalxix and then another stopped her in her tracks until she became so weak and sick she we moved her bed to the living room and she was out of school. With the help of others on fb..dysautonomic connection we got help and it led us to Cleveland for a ttt and then to dr. abdallah and then to mayo clinic mn. Now we have a diagnosis of EDS 3 and hyperanergeneric POTS with chemical sensitivities…but getting care is proving ot be a bigger struggle in south fl where peds spec are rare and then add who know of eds…pots…hyper-pots and chem sensitiviies. urghhhhh current prob is urinary and plantar fastiias….thank you for posting about the driscoll ideas…i have read her post before but this diamox thing must be new. she has been on zyrtec before but no meds now…headaches and nausea and excellerated emptying and yet not voiding for way too long are our biggest issues currently.. thank you for helping me feel more capable and not alone in navigating a very illusive med condition. i wish i paid more attn in science class now….but never too late to learn….oh we had no idea of emma’s med contition early either…she did complain of leg pain…of which i said growing pains, headaches of which i said dejhydrated..drink water….and stomach pains…took her to ped gastro…no help…slight scoliosis took us to shriners but they said slight curve could not cause this much pain….did get to go to the 2010 conference and you will feel like you are at a family reunion where everyone understands you.. i hope we can go…we have not seen one of the few eds specs and we also hope to get ahead of the curve and not reacting to problems…oh, thinking back now…she was born with a neck that could not turn…for a few days….but then only eczema until at early puberty the bottom fell out…thank you for sharing…as a teacher and mother i do know that knowledg and collaboration is our answer…thank you…..Mollie

    • Hi Mollie,
      I am so glad you commented. Sounds like you have been on quite a journey with your daughter! Watching your kid suffer is incredibly frustrating and I know I am endlessly thankful for the online community of EDS families. I honestly hate to think where my family would be without access to that knowledge. I know what you mean about paying attention in science class – I joke that I should have just been a doctor with all of the studying I am do now, just to try to figure out what is going on with my kid!

      From what you mentioned about your daughter’s anaphylaxis, multiple chemical sensitivities, and hyperadrenergic POTS, you should definitely take a look at the Driscoll Theory – particularly the mast cell disease part. Those three things practically scream ‘mast cell disease’. The second part of the Driscoll Theory will be coming out shortly, so even more information will be available – the second part will focus on the role of mast cells.

      I have to say that Dr. D really saved my daughter’s life. The high pressure headache was absolutely robbing her of any chance at life and we had no idea what was wrong before Dr. D. shared her theory. Emily went about 2 years with a constant massive headache that nobody could treat. The Diamox has been miraculous in controlling the headache and some of the other neurological symptoms. The Zyrtec and Zantac have been pretty miraculous too – particularly for the GI stuff that goes along with mast cell disease but also some of the neurological stuff. I hope to get her on Gastrocrom soon, but that will depend on getting to a doctor who actually understands Mast Cell Activation Syndrome. Anyway, definitely check out prettyill.com and if you have any questions, I would be happy to try to answer.

      Good luck! I hope you come back and let me know how your daughter is doing. (BTW, how old is she? My daughter is 13.)

      Thanks!
      Beth

      P.S. – I am Beth on the EDNF Inspire message boards if you are on there at all. Feel free to friend me if you are!

    • Wow! I have some catching up to do! Health is something that’s so easy to take for granted. Thank you for sharing to help others but also to remind us to NOT take anything for granted! I’ll catch up as I can!

      • Hey,
        I can give you the Cliff Notes version so you don’t have to wade through my early, sad, prolific posts :-): We have had a really, really rough 4 years. The lows were really low and scary. But, we are feeling like we have turned a corner. The right doctors, a few new meds have turned the tide and things are going really well right now. Em is in The Sound of Music – we honestly never thought she would be able to do theatre again and we have all missed it soooo much. So, it is kind of a miracle as far as I am concerned! God is good and has blessed us through every moment of this journey – in ways we couldn’t begin to understand at the time! There are still challenges ahead but we appreciate the good times all the more!

        Maybe we will see you around RCT now that we are back!

  2. Mollie said:

    hi beth, emma is doing horribly….she is fighting a massive migraine for six days…her father is who is causing most of her stress…he is evil an fights her diagnosis and causes her great stress…..i am sorry to burden you with that….he even brings in to court posts like this of me trying to help emma. his daugher from another marriage died at 18 of famial dysautonomia….we live in a med vacume….so few drs here seem to understand the autonomic system and then throw in chem sensitivies and NE problem of hyper pots….it is heartbreaking that the courts keep us here and i have no help as my family is in the midwest, and i pay all of the med bills on a teachers pay. please post more so i can have hope…..my child is suffering more pain than anyone should experience….

    • Hi Mollie,
      You have been on my heart since you last commented and I have been praying for you – I am so glad you commented but sure hate to hear that things are going badly for you both. I wish I could do more but just know that I am praying for you.

      Are you a member on the EDNF message board? If you aren’t, I urge you to join and get support there. There might even be suggestions of better doctors in your area. I am -Beth- on there – if you do join (it is free and all you do is sign up) please friend me. It is a very supportive group and I think it could help you in a lot of ways.

      At any rate, please let me know how things go for you and know that I am thinking of you.

      Beth

      • Let me try that again:
        I am -Beth- on the EDNF message board. Do friend me if you get on there or already on.

  3. Hi Beth. Thank you so much for blogging about your journey. I live in Central Fl and have been through so much in trying to seek help for my daughter. We first got her diagnosed with POTS in Dec. 2010 at Mayo in Minnesota. We go see Dr. Tinkle this June. Thankfully, we don’t have too much longer to wait. My daughter just turned 15 and has been suffering for a long time now. Stomach issues with an abundant amount of mast cells found in intestinal biopsy. Her joints her sooooo much. Lives everyday in so much pain. My heart breaks for her.
    I could write so much more, but I just wanted to say how much I appreciate your blog.

    • Hi Lori,
      I am so glad you ‘dropped by’. It is such a challenge to live with EDS and all of its assorted baggage. It is heartbreaking to have to watch our kids suffer like they do. Blogging about it has helped me a lot and so has the contact with others, like you, who are traveling the same path. I think you will be relieved to see Dr. Tinkle – we were so relieved when we got finally got to see a real expert.

      Good luck – please let me know how things go for your daughter. Thanks for commenting!

      Beth

  4. This post actually made me quite emotional. I have been on a similar EDS journey as your daughter. I loved gymnastics, and couldn’t understand at the time why my Mum decided to take me out of it at 10, but I also remember the pain during and after training. My big dislocation happened at 3, when both my shoulders popped out. At 17 I was diagnosed with EDS, and at 19 with POTS, both which I’m still battling through but slowly making progress.

    I couldn’t have achieved what I have without my Mum, and the unwavering support of my family. It sounds like you have it spot on – she will look back at her childhood and will really appreciate all you are doing for her =)

    Plus, there is always light at the end of the tunnel. I’m now 22 and although I’m still suffering with symptoms everyday, it’s still possible to be happy.

    : )

    • Hi,
      Thanks so much for commenting. Life with EDS is rough and it brings all kinds of ugly crap with it. But, you are so right: it is possible to be happy, even while suffering everyday. I don’t think the general public gets that! So many stories of EDSers are so similar – from the dislocations to the disbelieving doctors to the autonomic symptoms. I always am thrilled to hear of an EDSer who has hope and is doing well. So thanks for sharing your thoughts – it gives me hope for my daughter!

      And I hope you are right about her looking back and appreciating how much we care. I think we moms of EDS kids feel a lot of guilt for all the years prior to diagnosis and so it is no sacrifice to do anything necessary to make their lives better whenever possible.

      Anyway, thanks for popping in and commenting. I love to hear from other EDSers, so please keep in touch – I hope your POTS symptoms get controlled and you can really make progress in getting better!

      Beth

  5. Tracy Rose said:

    Hi,

    Healthline is interested in contributing a guest post to slingsandarrowsofoutrageousfortune.wordpress.com. We would be open to contributing any blog that would be of interest to your readers. Healthline bloggers have been featured on a variety of sites including:

    Washington Times: http://communities.washingtontimes.com/neighborhood/tango-mind-and-emotion/2012/aug/10/how-healthy-choices-easy/
    Natural News: http://www.naturalnews.com/036515_diabetes_strawberries_prevention.html
    Patch.com: http://strongsville.patch.com/blog_posts/where-and-what-to-eat-in-cleveland-to-beat-the-winter-blues

    Please let me know if you have any questions. Thank you in advance for your consideration.

    Warm Regards,
    Tracy

    • Hi Tracy,
      Thank you for your offer of contributing a guest post. If any of your writers have first hand knowledge of EDS and the many co-morbid conditions that often accompany EDS, I would be happy to consider a guest post on such a topic. Only writing based on personal knowledge of this type of relevant topic could properly reflect the focus of this blog and thus be useful to my readers.

      Thank you for your interest.

      Beth

  6. Helyn said:

    Hello,

    I found this blog while going off on a google tangent from something else. I felt compelled to leave a message and to share my own story and I hope that is ok and maybe helpful. I think my story could be helpful for anyone who is young or has a child and wonders what the future might be like. I was that child once, and now I’m a young woman in that future.

    I feel for your Daughter. And I know my own Mum would feel for you.

    I am a 27-year-old female in Canada and I have EDS – III. I was bending this way and that by the time I was developed enough to sit up on my own. My parents tell fond tales of pulling me out of the tub with me stuck in a full split and of finding me folded into cupboards, boxes and luggage when I had nightmares or was playing hide-and-seek with my siblings.

    I excelled in Ballet, Gymnastics, Swimming, Diving, Contortion, and Martial Arts. My first love was Gymnastics but my parents were advised to put me into something else because my body-type wasn’t right. I was ‘fat’ for gymnast and dancer standards and at 11 I was already 5’9″ (I am 5’10 1/2″ now) and had experienced my first period at 9. My body was already too ‘old’ for any kind of career in Gymnastics or Dance. I found my home in Kung Fu and Wushu where my height and my build had their own advantages. The conundrum for my child hood coaches was always that I was so flexible with the ‘wrong’ body. But for our family, me being bendy and always sitting and sleeping in extended positions was the norm. We never thought it was a ‘bad’ thing or something to be explored with my Physician growing up.

    My flexibility and ease of acrobatics gave me a priceless edge in competitive Martial Arts, particularly in ‘forms’ (In Japanese arts they are known as Kata). Need me to do a barrel-roll into a full split? No problem. Need me to roll across the floor with the heels of me feet on the back of my head? Piece of cake. I loved Martial Arts so much that I started coaching in my early teens when other students at the Dojo started to approach me for training. I became a reliable choreographer and was leading a competitive team on my own before I was old enough to drive. I thought that I would go on to open my own Dojo after studying health and fitness at College or even Kinesiology at University.

    When I was freshly 16 I made a terrible and negligent mistake. I had dislocated my left elbow after bailing on an aerial cartwheel and spotting the floor wrong. Dislocations were normal for me and I was quite adept at setting them on my own. They never really hurt either. But I should have let the joint rest. Instead I was back on the mat in less than two weeks and fumbled a tumbling run and ended up breaking four of my lumbar vertebrae as well as causing severe damage to the soft tissue of my lower back and my sacrum. I was partially paralyzed from the waist down for over three months.

    My mother was what got me through the accident. The accident itself was bad, but as an athlete and as the KIND of athlete I was, I was used to being in pain. But when the surgeons started to agree that if I ever got back on the floor and hurt myself again I could end up in chair, I had to face reality. That’s a hard thing to do at 16. My mother would tell me that God opens other doors for us when one has to be shut, but I didn’t want to go through any other doors. I wanted to open the one that lead to the future I expected to have.

    I was never able to return to the competitive circuit but stayed on as a coach until I left for University at 17. At first I thought “Ok, I got hurt, as far as age goes I only had a handful of years left before I’d be looking at retirement anyway. I’ll just coach.” But I started to resent my own students and I became frustrated. I couldn’t teach the way I wanted to anymore because I couldn’t risk demonstrating things the way I used to. There was also the pain.

    I’m a Physician now and I can reason that I was actually always in pain prior to the accident, I had just written it off as being attributed to my sports. I too had leg pains that were written off as growing pains (even after I was taller than my Doctor) and I’d always had dislocations and subluxations but attributed them also to my bendy activities. When I was no longer doing anything more acrobatic than the odd walk-over or aerial (I couldn’t risk doing anything with rapid impact, like hand springs) I thought the pain was the injury because I was in pain all the time. I did have bouts of pain associated with aggravation of the spine for which I began keeping IV morphine in my drug locker for (and still do today) but all of my joints hurt. Things got worse as I lost muscle mass. It was as if my muscle deflated but the connective tissues never shrunk and hung loose instead.

    I was relieved when I left for University to begin Pre-Med because I wasn’t going to be around my sports anymore. I took on a more sedentary life-style. When I was just turning 17 my spinal anomolies were documented well-enough and my pain was so persistent that I was able to see one of the best Spinal surgeons in Canada,Dr. Hamilton Hall. I saw him in Toronto. His fellow suspected EDS and Dr. Hall confirmed it. Neither my Father nor myself thought much about this since we still hadn’t connected my flexibility with my pain and my injuries. Dr. Hall gave me two treatment options: He could go in and fuse my lumbar spine, or I could try having a breast reduction (I was a Double D even at lower than average percent body fat). We opted for the boob job. I was put on table in Kingston when I was 18 and had the reduction.

    It only took a few months for us to see that I had been hunching-over since I’d sprouted my breasts and that my drivers license was wrong. I wasn’t 5’9″, I was 5’10 1/2″. For months i felt like I was pin-wheeling backwards while standing up as my spine started straighten.

    It took several years but the bouts of acute aggravation of my spinal injury became more and more sporadic. Today, I am having a bad year if I have two episodes.

    I am still advised not to bend and certainly not to do any acrobatics and as a Physician I understand the logic, but I also find that my pain is worse if I DON’T extend my joints. I do passive stretching now and build muscle mass to take up the slack of my lax joints. One of the things that I found was key for me was to realize that I balance and move my body differently than a normal person. I rely on the laxity of my joints for my range of motion and will sort of ‘fling’ my limbs. My weight is carried on my joints. I had to consciously make an effort to use my muscles, not my joints, as the primary points of tension and pressure. This might not make sense to a normal person, but someone with EDS can probably understand what I’m saying.

    I have neurological symptoms and am listed as probable for relapse-remitting Multiple Sclerosis. My brain MRI’s are very interesting to the trained eye. I have osteoarthritis in my sacrum and my right knee and take pain medication regularly. I still retain full-range flexibility except for my left ‘hip’ where my sacroiliac joint that was dislocated during the spinal injury never reset correctly. I have a wheelchair in my storage closet for those times when its necessary. To many of my colleagues and peers my health is considered poor and I am urged to ‘take it easy’.

    I’m a successful Emergency Physician who still practices contortion and gymnastics (though it’s more ‘rhythmic’ gymnastics-like movements). I bind my trunk with ‘too-small’ lycra slips that fit snug around my hips to provide extra support and when my knee is tracking I wear a patella sleeve. If my physiotherapist and occupational therapist had their way I’d be in a scooter myself. A key medication I’ve found that is immensely helpful for me is a benztropine. It’s not regularly used and can be hard to get but since it is derived from a paralytic it has an oddly stabilizing effect on my voluntary muscles. I use intramuscular injections during acute fits of ataxia and tremor and also for acute pain. I didn’t prescribe this medication myself, but was given it by my neurologist.

    You’re daughter – Em – seems like she’s in a bad state right now and the prognosis sounds like it’s poor. But I have also been through period where the prognosis was very poor (Hospital admissions, threats of suspending my license, etc). And I found that if I stop trying to fix my lax, flaccid body and just listen to it, wrap joints when they feel they shoudl be wrapped, stretch them when they feel they should be stretched, and pay conscious attention to how I hold and carry myself to make sure I’m using my core muscle groups, not my bones and joints, that those prognoses have drastically improved. There was a time I was in a Chair and the experts all agreed – hell I even agreed given my education – that I was sitting in the last chair I’d ever sit on, but it didn’t turn out that way.

    I don’t know Em’s medical profile so I will refrain from suggestions. But rehabilitative medicine is something I have spent a lot of time in as a patient and have a great deal of understanding as a practitioner. I hope that the specialist you have for your daughter are good and they they are open to trying things that aren’t necessarily in the protocol manuals. Our bodies – Em’s and mine – are different at molecular level, but the collagens affected by EDS are not in every type of tissue and those tissues are just like everyone elses. Building those tissues can help.

    I have a family that I treat as a GP who are afflicted with EDS and we’ve made very good progress. I wear a full body sleeve (a sort of tight-fitting unitard) during activities with flexible braces in key places and one of the things we tried with this family’s daughter who herself is a dancer and is having problems due to her EDS-III is putting her in a full-body burn-compression suit during the day and a trunk wrap at night. Her pain is much better. She’s no longer on the high-end narcotics she was when they first moved to my district and became my patients.

    Keep learning and keep seeking new approaches. Remember that just because we have an M.D. after our name doesn’t mean we’re right. Most importantly, don’t let EDS become Em’s life. It’s just part of her life. There are so many things that can be done to not only lessen her suffering but to increase her quality of life, it’s a matter of finding the right set of those things to apply in tandem with one another.

    Don’t give up hope. An don’t be afraid to help her walk through the doors open when other doors shut. My Mum was right about that.

    God bless you and your family. I have said a prayer for you all.

    Regards,
    – Helyn

    • Hi Helyn,
      Thanks so much for sharing your story. I know when Em was so terribly sick a couple years ago, I just had a hard time believing that she was ever going to get better. But, now, she is better in so many ways and I think it is important to share that hope with everyone else. Stories like yours are really important to share so that people who are really feeling hopeless can know that there is hope!

      It is interesting that you found martial arts helpful…My son had been in Tae Kwon Do since he was 8 – when he was 15 and preparing to take his black belt test in about a week, we figured out that Em had EDS and looked at Luke and realized he probably had it too. It was in incredibly hard to let him go through with the test but he wasn’t symptomatic at all, so he took the test and was fine. I know that, if I had known about the EDS, I never would have let him take TKD as a kid. BUT, I also know that it was really good for him – beyond the mental rewards, he was active and strengthening his joints. It is a double edged sword, but, for some it can be really good. I am glad you found an activity you could enjoy.

      Regarding your neurological symptoms and MS, have you looked into the Driscoll Theory? The treatments suggested by it are the main reason Em is doing better now, and you saying you have MS jumped out at me. There really seems to be a connection between EDS and MS.

      For Em, the worst that she deals with today isn’t her joints, it is everything else – the neurological stuff (which is better now), the autonomic dysfunction, the mast cell issues and the GI problems. We are slowly getting them addressed, but it is a long road.

      Anyway, thanks so much for reading and commenting – and thanks for your prayer.

      Beth

    • Katy Chappell said:

      Helyn,
      I played sports, trained horses, did gymnastics
      , and about everything I could havebto make my EDS worse. I wasn’t diagnosed until I was 32 finally and couldn’t even walk. I have a shunt and have had multiple neurosurgries that havefused me from skull L to C6. I was a trpple D at age 17 and 90 lbs lighter. I am above an I now (not sure nothing fits). To save the rest ofmy back I unfortunately can’t physically do what is necesaary for ideal weight and breast reduction circumstances. I just need to find a plastic surgeon that won’t make a diaster out of the surgery.my skin and ins
      cisions by my neurosurgeon heal great, but everyone else makes a d I saster out of ven port rovals. Any suggestions on finding a US plastic Surgeon that would be qalified to take on think fragile skin and is a t to p expert in breast reductions. I don’t want a surgical nightmare.
      Thanks
      Katy

  7. Ellen Waverka said:

    Hi Beth,
    I just found your site recently and would really like to know how you were able to find a dr to prescribe Diamox etc. I am new to the EDS world (17 year old daughter and 14 year old son dx in Jan after previous singular labels of POTS since 08 and 12 respectively. We have seen multiple specialists at CHOP but have really been dismissed by all but Cardiology but even there my thoughts about my daughter’s increased intercranial pressure falls on deaf ears. Would you speak to me by phone at your convenience? Or know of anyone in the surrounding Philadelphia area who would correspond with me.
    Thanks,
    Ellen Waverka

    • Ellen,
      Honestly, I think we simply lucked out in getting someone to let us try Diamox. We went through her geneticist, a headache specialist, her pediatrician and her pain doctor all saying no, before seeking a second opinion and getting a trial that very day. It is SO hard, and I really sympathize. You might check out a post I did at the request of one of my readers – I compiled all of the suggestions/ pointers that I thought would help, so click to check out Diamox Pointers

      (If that link didn’t work, here is the short link to the post: http://wp.me/p1mpA8-nI)

      I have heard atrocious things about CHOP as far as EDS, so I am not surprised you have had problems. I have no personal experience, I just know that from what I have heard others say about their experiences – bad seems to be universal for EDSers at CHOP. I don’t know anyone personally – but, if you are not already on Inspire (the EDNF message boards -http://www.inspire.com/groups/ehlers-danlos-national-foundation/, you might consider getting on and asking for suggestions from people in the area. It can be incredibly helpful to talk to others from your area and get suggestions on good doctors, doctors to avoid and just get support in general.

      If you would like to give me a call, I would be happy to talk to you – I am not sure how much help I can be, but I am willing to help if I can! Just contact me by email – bethsmith92@live.com. I hope you find answers, one way or the other!

  8. Charlene said:

    Thank you so much for sharing. We are on this nightmare of a journey too. We are being seen at a genetics clinic next week. We too have many many specialist. I have asked the question many times what cause loose joints children do not have joints popping in and out all the time. This is not normal. So finally one of the Dr’s listened and now we see someone else. I actually hope they are familiar with this disorder as I am confident this is within our family for many generations. I believe my daughter, my son , and I all have EDS. Do you know if their are any EDS Specialists in Canada?

    • I am so sorry to hear that you are dealing with EDS. It is a long, hard journey, but getting to the right doctor is the key. Someday the diagnostic process will be better, but, for now, we just have to push until we get answers. Be strong and know that you are doing the right thing for your children and yourself!

      I don’t personally know if there are EDS experts in Canada, so I really can’t help you there. I would recommend that you join the EDNF message board on Inspire (http://www.inspire.com/groups/ehlers-danlos-national-foundation/). There are Canadians on there and there are discussions about specialists in Canada or you can ask your own specific question that can be answered by people who know the answer! It is a great resource for learning about good specialists, not-so-good specialists and pretty much anything you need to know about EDS. There are lots of parents of EDS kids on there, so I think that is the best way for you to get information that will help you on your journey!

      Thanks for commenting – good luck in finding the care and answers you need!

      Beth

  9. Jessica galaviz said:

    Im 43 and have been battling poor wound healing for 9 years but over the last year i have had multiple changes that had me researching for answers , joint pain, body aches, went from no glasses to bi focals, i have always been flexible or double jointed and have always been complemented on my smooth or soft skin! I have had a MRI and was told i have advanced osteoartritis, my back looks like that of a 60 year old, then i lost bision in my right eye briefly and after a thourough eye exam was disgnosed with a degenerative posterior seperation of the vitreous, common in 80 year olds! I will have to learn to deal with seeing spots and hairy spider legs in my vision, with the risk of a retinal detatchment! That im sure if it happens wouldnt heal, so that means loss of eye sight- my biggest fear!

    • Gosh, it sure sounds like you tick a lot of boxes for EDS! I think getting to a geneticist and digging for answers would be a good idea. I am sure you are discouraged and frightened by the eye issues you are having, but, keep in mind that doctors can work miracles, so try to cling to a little hope!

      Good luck!

  10. Shanda driller said:

    Good morning. After 15 years of searching for answers to the physical torment I have faced doctors now believe I have eds. My teenage daughters have recently fallen ill with similar symptoms as me…..which terrifies me. I am from Cincinnati and saw dr tinkle before he moved away. I would love to speak to you either through email or on the phone. If you would be up for that it would be such a blessing. The fact that you’ve seen some improvement for your daughter offers me hope! Thank you so much for sharing.

    • So sorry it took me so long to reply.

      Absolutely, you can contact me by email – just use the contact form on the right side bar. I will do my best to get back to you if I hear from you.

      We have had a long road with my daughter and have been so blessed to see real improvement. The latest has been started Midodrine for her autonomic dysfunction. It has been pretty amazing. In the beginning of this journey, I really had little hope for Em ever getting better – so I know how you feel. I would read blogs where people talked about improvement and I was both hopeful and afraid that it wouldn’t happen for us. So, I want to offer people hope since it has happened – and Em was very ill. There is reason to hope!

  11. Hi,
    It was awesome to read ur story. I am going thro a process now and have got assessed by a physiotherapist just recently. The physiotherapist that came and saw me thinks I have eh,era danlos syndrome. I am not really sure how to take it but…. I have been looking things up on the Internet about it. It dosen’t sound fun at all. I am only 26 myself and he wants a OT to come asses me to get me a wheelchair as well. I have always had major problems with joints and different things seance birth as my mom has same problem. It actually kinda scary and not sure where and what to do.

    • I am sorry to hear that you might have EDS, but you will be fine! No, it is not fun and it sucks! But, with the right attitude and right medical care, you will learn how to manage.

      A good PT is a huge help – and if yours caught the EDS, that is a good start. An OT can be wonderful too. They can help with wheelchair assessments and all kinds of other stuff that will make your life easier. Let them help you all you can.

      If you can get to an EDS expert, you should. Are you in the UK? (I am thinking maybe since you said ‘physiotherapist’?) If you are in the UK, try to get to Professor Grahame in London. He is a world renowned expert.You might get on http://www.hypermobility.org – it is a UK organization that supports EDSers. You might get a recommendation for an expert if you get on their forum and ask.

      I know you are scared right now but just take it one step at a time.

  12. Deborah Davis said:

    After 2 ACL reconstructions in only 4 years and in need of re-reconstruction of the first and a history of so many medical problems, I’m on my way to a rheumatologist finally! I too self diagnosed from intensive online research. Then I told my doctor and well lets just say there were no apologies for not recognizing all the signs!

    • It is a relief to finally know the name of the thing that has plagued you for so long! Good luck – I hope you are finally able to get an official diagnosis. One word of caution: a rheumatologist may or may not be your best bet. Some are great, some are horrible. If you find your rheumatologist to be less than helpful, consider getting to a knowledgeable geneticist, one who specializes in EDS if possible. I have know idea where you are, but there are a few good geneticists who will not only diagnose you, but also follow up and help manage your ongoing care.

      Best wishes and thanks for commenting!
      Beth

  13. Hi, I nominated you for a Liebster Award. Here is a link to my post where you can get the instructions for accepting the award. http://30somethingwitharthritis.wordpress.com/2013/11/18/accepting-the-liebster-award/

  14. Lynette Garcia said:

    I to am afflicted with EDS. Will write something soon.

  15. Ann Pulaski said:

    Hello All,
    I haven’t read everyone’s story on here, but eventually will. We actually were diagnosed with EDS by Dr. Tinkle as well. I remember that he agreed to see all four of my young children at the same time. I told them, whatever they did, not to laugh when he introduced himself. As I’m sure you can imagine, four siblings sitting in close proximity of each other in a small room, all burst into fits of giggles. Now, years later, I have found myself trying to figure out why a whole new host of symptoms have appeared in mostly my youngest who is now 12. Dr. Tinkle moved on and I dropped the ball on following up for the EDS, and now, it seems, everything is circling back around to it. Anyway, long story short, the words dysautonomia, POTS, central nervous system apnea, just to name a few, have all popped up, as well as some very strange food intolerances. A sleep study showed high carbon dioxide at night and that her heart was throwing PVCs. Her bone density is low. She feels faint with exercise and she sometimes complains that her foot pain is so bad, she too resorts to crutches. She too has had multiple dislocations of joints, with the most painful being the ribs, resulting in some very painful costochondritis. She is also asthmatic so frequent coughing fits do not help the chest situation. She gets migraines with vomiting. She just had a MRI which showed no sign of chiari malfunction.
    We are scheduled to see a new geneticist but his first available is June 2. Until then, I am wondering how you definitely ruled in or out the dysautonomia. I did listen to the video and she hasn’t had any of the tests mentioned. Did your daughter? Also, to your knowledge does the MRI rule out the mast cell disease? I think that is the one you talk about involving the brain fluid? They did do a couple extra pictures to look at the blood vessels. Maybe listening to more videos on the Driscoll theory would be helpful? Thanks for any reply.

    • Hi there!
      Thanks for reading and commenting! We loved Dr. Tinkle but, yeah, would be lying if I said there weren’t giggles over his name! Are you going back to Cincinnati Children’s for your appointment? We see Dr. Neilson now and really like him a lot. If that is who you are seeing, or Dr. Schorrey, you will be in good hands!

      Re: dysautonomia – my daughter had a tilt table test which pretty definitively showed dysautonomia. She fainted in 8 minutes, so yeah. Beyond that, we eventually got to a cardiologist (syncope specialist) at Cincinnati Children’s. He has declined to label whatever ‘it’ is but says ‘it’ is definitely autonomic dysfunction. Midodrine has helped, although it is not perfect. Propranolol has helped but only a little. Honestly, the zyrtec/zantac combo and Diamox probably are the biggest helps but the the other meds are helping. Some doctors think that the tilt table test is cruel and just rely on lying/sitting/standing BP and heart rate readings. Our current cardiologist did not order a tilt table test and did not even ask for the results for the one we had done a couple years ago. (BTW, his name is Dr. Anderson – if you are going to Cincinnati Children’s and need help with dysautonomia, he is who you will see. We like him as well.)

      An MRI will not rule out mast cell disease. Actually, mast cell disease is really complicated to diagnose – special urine tests and looking at symptoms are the best way. And so many doctors – even allergists – don’t know what to look for. So, mast cell is not an easy thing. If you think this is an issue for your daughter, let me know and I will give you more info about it.

      My daughter’s MRI showed no chiari also. But, eventually, we were able to try Diamox and it made a huge difference. I would definitely recommend watching more videos from Dr. D on prettyill.com. That is the best way to understand and be able to make a determination as to whether some of these treatments might help your daughter. I know it is hard but hang in there until you get to the geneticist. In the meantime, you can start learning all you can so you can steer her to the best treatments. Be aware that the doctors at Cincinnati Children’s are not currently fans of the Driscoll Theory. Dr. Neilson seems ambivalent towards it so I am hopeful that he will come around but don’t expect to talk about it with them and get a lot of support. We went against their advice when we followed the theory – now we just do our own thing with it and let them help us as they can.

      Good luck – it sounds like you have your hands full. How well I remember those early scary days! Just hang in there – if I can answer any other questions, let me know!

      Beth

      • Ann Pulaski said:

        Thanks Beth. I guess, slowly, but surely, we will get the answers we need. We are waiting to see Dr. Neilson. And it seems, wait we will! We too saw Dr. Anderson who did the blood pressure from different positions and said he thought it was dysautonomia. I had never heard of that so I wasn’t prepared to ask any questions. He actually said he no longer needs to see her unless she has more problems. Right now, her treatment is more water and salt. We also saw upper airway at CCMC for the carbon dioxide levels. She will have her tonsils removed on Feb. 4th. The levels were very high for long periods so they are not sure if this will solve the problem, or if there is anything else that might be causing it. The pulmonary doctor said the levels are what you would see in someone with serious lung disease, which thankfully, she doesn’t have. It is step one, and hopefully maybe the only step for this problem. I haven’t found any posts from anyone else with EDS that have a carbon dioxide problem at night, so maybe it isn’t related. Glad to hear you like all the doctors at CCMC. Did your daughter’s MRI find any tiny vessel problems in any brain lobes? And if so, did they say they need to follow up with it?

  16. geo pere said:

    Hi I have ESD and I feel alone… I want to know other people… have what I have please email me back thanks…

    • Hi,
      It is great to find other people who have EDS and talk to them. The best place for you to actually be able to ‘chat’ with other EDSers is probably the EDNF message board on Inspire… http://www.inspire.com/groups/ehlers-danlos-national-foundation/

      There are thousands of people with EDS and all the stuff that comes with it. Probably even people who are located near you, so you might be able to find a local support group to attend.

      You will need to make a free account- not a big deal, only takes a couple minutes. Then you can read the conversations, comment or even start your own conversation and ask questions. It is a really helpful site. My user name on there is -Beth-, if you get on, feel free to friend me!

      Thanks for commenting!

      Beth

  17. Thank you so much for your story. My 7 year old son Gavin, has been having knee pain for 8 months now. He is a dancer and gymnast. Gavins whole world is dancing, he comes alive on stage. Gavin has seen our pediatrician, and now is seeing a physical therapist once a week. We are seeing a geneticist this week, and a rheumatologist in 2 weeks. . When my pediatrician told me she thought it was Eds I Googled it and my heart was broken. . We still do not have a diagnosis yet, but I’m scared. Gavin is very hypermobile, has night knee pain that lasts hours of him crying, his knee dislocate very easily. Hopefully we will find our answers soon. Thank you again for sharing your story

  18. Lori Bailey said:

    I have eds hypermobility type and was put out of the army because of it. I believe it is behind a lot of health problems I have but VA is my only health care and I may as well not have any… I have horrible stomach and bowel movement problems, severe headaches and most recently hip pain that is excrutiating especially at night . Thank you for your story.

  19. Shantell said:

    I am a gymnastics coach who has a gymnast with EDS. Using resistance bands to strengthen and allowing her only to train in Rhythmic gymnastics, do you think she will be safe to train?

    • First, I want to commend you for being concerned about your gymnast – I am so impressed!

      Second, I cannot fully answer your question – only her doctor can – but I can throw out a few ideas for her and you to consider.

      You ask a complicated question – it really all depends on how affected she is. If her issues are relatively minor (and I am assuming they are if she is still in gymnastics) then continuing to exercise and strengthen is very possibly a good thing. Typically, the goal is to stay as strong as possible. So, resistance bands and doing Rhythmic gymnastics are possibly a good plan. I would encourage her to speak to her doctor – hopefully someone who really knows EDS has diagnosed her and is following her case to give good advice about her gymnastics. Honestly, how to address sports for kids with EDS is not universally agreed upon by the EDS experts so a good doctor will need to help her decide based on her individual situation.

      Keep in mind that gymnastics is not a terrible thing – done wisely it can keep a kid with EDS strong and functioning. The approach used by the doctor that diagnosed my daughter was that if kids are able to continue in their sport, that is fine. He likes them to be in PT, preferably sports based, to help them continue strengthening safely. However, if they have continued injuries from their sport, say more than a couple major ones, he will pull the plug. I think that is a practical, solid way to keep kids doing what they love.

      Some guidelines to consider:
      * If it hurts, don’t do it. “No pain no gain” does not apply to EDS. Pain indicates something is wrong and should be listened to.
      * Competitive gymnastics should be carefully considered, although rhythmic is probably her best option. Again, I would encourage her to seek guidance from an EDS expert – there are a handful of geneticists who diagnose and treat.
      * Brace weak or injured joints to prevent further injury.
      * Be vigilant about good form. Hyperextension is so easy when you have EDS and should be avoided.
      * Stretching should never encompass hyperextension. It should be gentle and very careful.
      * Be aware of poor proprioception. This can lead to injuries. She needs to be aware of every movement and action.
      * Be aware of other co-morbid conditions: POTS especially. If she gets light-headed when she stands up or changes position or when she is over heated, she should drink lots of water and be aware of triggering a POTS episode. There are “home remedies” and medications to treat POTS but it would obviously be dangerous to be light headed in the gym. Another reason why doing Rhythmic gymnastics is a good option for your athelete. POTS can be the most debilitating part of EDS so encourage her to get it addressed promptly if you see the signs.

      Finally, I would like to close with a reminder that EDS is extremely variable from person to person. My daughter is severely affected and had to quit gymnastics but there are people who are able to continue with their sport and go about their life with few problems. Your gymnast should not assume she will end up like my daughter! Take it one challenge at a time and use common sense. I hope she is able to continue with gymnastics for a long time and stays strong and healthy! Thank you for taking the time to research what is best for her. Please pass along what you learn to other coaches so we can educate the gymnastics community about EDS.

      Beth

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