Ehlers-Danlos Syndrome: the lengthy road to diagnosis

For people with Ehlers-Danlos syndrome, a genetic disorder affecting the strength of collagen that provides the body support, structure, and stability, the road to diagnosis can be lengthy. The reasons for this can differ from person to person, but are often related to confusion over the multiple types of Ehlers-Danlos syndrome and the many signs and symptoms associated with the condition.  We most frequently see the hypermobile type of Ehlers-Danlos Syndrome (EDS-HT) in our Connective Tissue Clinic.  From growing pains to grown-up pains, here are the most common scenarios we see:

  • An active nine-year-old girl sees her doctor because of pain in her legs at night and pain in her hands when writing at school.  She describes her leg pain as “all over,” but says they go away with Tylenol.  Her doctor reassured her family that these are “growing pains.”
  • A 13-year-old girl begins having problems after spraining her ankle playing soccer.  Healing takes a lot longer than expected and when she returns to the game, she dislocates her shoulder. Two additional surgeries are required because the shoulder “falls out” after the first.  Over time her neck, hips, knees, and ankles develop chronic daily pain that interfere with her concentration and make it difficult to sleep.  Headaches become a daily occurrence and some of them cause her to leave school early.  She also begins to feel dizzy and “blacks out” with standing.
  • A 40-year-old woman with fibromyalgia, chronic fatigue syndrome, and chronic migraines researches her symptoms on the internet and realizes that many of her problems are frequently seen in EDS-HT.  However, she does not think her joints are flexible, which is part of the diagnosis.  She remembers that in grade school she could “freak out” her friends by the way she could bend her fingers backward.

While these examples are three separate but typical scenarios for someone with EDS-HT, they can actually describe the progression of one person’s EDS-HT symptoms over time.  What can look like a mild problem in children can accelerate in adolescents and teens, becoming a condition with debilitating pain.  It can be tricky to diagnose in older patients because the flexibility can decline over time.  It is important to know that symptoms in EDS-HT are highly variable and not everyone will experience pain and/or functional limitations to the same degree—if at all.  However, with early recognition, interventions such as physical therapy can improve the stability of joints and stop the progression of pain—possibly before it even starts.

So as a parent, how do you know when to acknowledge your child’s pain as being part of normal childhood “growing pains” and when to be more concerned?  With EDS-HT, the first place to look is at the joints, which in childhood will be loose.  Signs of joint laxity, sometimes called “double-jointed” include being able to:

  1. Bend your little fingers back beyond 90 degrees
  2. Push each thumb to the front of your forearm
  3. Bend your elbows backwards
  4. Bend your knees backwards
  5. Being able to place the palms of your hands on the floor while keeping your legs straight

If your adolescent or teenager is struggling with pain in different parts of the body, along with exhibiting some of the above double-jointedness, this scenario may warrant further evaluation. Dr. Goldschneider offered descriptions of pain experiences in patients with EDS-HT in a previous blog post, for those who are interested in more specific examples.

If your adolescent or teenager has already been seen by a medical provider and you still have concerns, a clinical geneticist or doctor that specializes in connective tissue disorders may be able to provide further answers.  He or she will conduct a thorough medical and family history, along with a physical exam that will evaluate for the different types of Ehlers-Danlos syndrome.  With a confirmed diagnosis of EDS-HT, an individualized and comprehensive management plan can be developed to ultimately help your adolescent or teen attain a better quality of life.

   Questions? Request more information about our Connective Tissue Clinic.

Editor’s note:  we hosted a live event in August 2013, in which Drs. Neilson and Goldschneider answered questions from families related to Pain Management for Children with Ehlers-Danlos syndrome.  You can watch the recording on YouTube

Derek Neilson, MD

About the Author: Derek Neilson, MD

Derek Neilson, MD, director of the Connective Tissue Clinic, specializes in treating children with Ehlers-Danlos syndrome.

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Comments

  1. Gloria Stevens Garrison August 19, 16:11
    Interesting..I was taken to the Dr. several times for severe leg aches and the growing pain dx was always given. My mom was an acrobatic tap dancer and could do astounding maneuvers like being able to have her leg raised up straight above her shoulder. I am 68 and can still do the palms flat on floor with legs straight and finger bending. I have 50 degree Tspine and 36 degree lumbar curves..therefore, in the amazing looks I get from orthopods, I have no reason to have back pain...out the door..this is a great article..no doc has ever mentioned this at all..I am grateful for the hamstring flexibility though. I will check Spine-Health.com for this topic..answers a lot of questions..thank you
  2. [...] here is a post by Dr. Neilson on the CCHMC blog about EDS.  And a post by Dr. Goldschneider discussing pain in [...]
  3. Christina March 05, 10:01
    I fit exactly the third scenario. I am an almost-40 year old woman who is having 'unexplained' joint pains. A friend suggested EDS, but my doctor said it's "too rare" for me to have it and said "if you're worried, find a rheumatologist"... completely dismissing me. I have many of the signs though - I am able to do all five of the things listed above, as well as sit with my knees in the "w". I have "clunking" joints which, after looking it up sound like subluxations. My shoulder is practically immovable because of pain, but it used to pop out and in all the time, not enough to dislocate, but just enough. I can still grab my hand behind my back though - despite the pain. I have frequent migraines. IBS (and Celiac). I have fibromyalgia and chronic fatigue. I have scoliosis and TMJ. I have chronic costochondritis, plantar fasciitis, and joint pain. I have had cartilage issues since I was a child. My shoulders and hips often snap or crack, as well as my spine. I was dx with Raynauds and Peripheral Neuropathy, as well as possible "carpal tunnel" even though my symptoms don't really fit. The last rheumatologist was pretty dismissive, as though he thought I was being a hypochondriac. I am at my wits end with this and just want a diagnosis. I have had "negative" x-rays and have been tested for arthritis, Lupus, MCTD and no one has EVER suggested EDS to me (and when I finally suggested it myself, I was dismissed - but this sounds exactly like me!) How do I go about getting a diagnosis? Are there doctors in Cincinnati (not a Children's, since I'm adult) who are specialists in EDS? I am worried my son also has it.
    • Rachel Camper
      Rachel Camper March 06, 12:22
      Hi Christina, Our Connective Tissue Clinic sees adults. I recommend reaching out to them at skeletaldysplasiacenter@cchmc.org to see if they can help. More information about the Connective Tissue Clinic can be found here: http://www.cincinnatichildrens.org/service/c/connective-tissue/default/
      • Ana January 26, 03:25
        Not to piggy back but do you know of anyone in Az. I need so much help.
        • Rachel Camper
          Rachel Camper January 26, 14:12
          Hi Ana, I reached out to Dr. Neilson and he apologizes, but is not aware of any colleagues in Arizona who treat EDS.
          • Susan Cornelius June 12, 01:26
            There is a Facebook page for people in AZ who have EDS and they have a list of potentially knowledgeable doctors. Its called ArizonaEDSprivate.
          • Lois Campbell June 12, 02:54
            Dr. David Saperstein, M.D., Neurologist diagnosis & treats EDS in Phoenix. Lois Campbell, Peoria, AZ
        • Kimberly August 17, 23:01
          Hello! My three kiddos & and I have EDS (they suspect vascular & Marfan for 2 of the kiddos). Who can treat our EDS in MI? Thank you in advance!
      • Melissa June 12, 08:02
        Do you know of anyone that specializes in EDS in Wisconsin? I've been diagnosed by a genetics dr but to find a dr to actually treat my systems and pain is proving difficult :(
        • Brittany December 22, 02:55
          Go to Milwaukee's fredert hospital or how ever its slelt me and my daughter goes there for our eds. I like all the doctors there ni dislike most doctors
        • Jeff October 06, 20:58
          Herma Heart Center is a great resource . Dr Michael Earing is a doc who specializes in connective tissue . Specifically Marfan syndrome . My son was diagnosed about 8 years ago .Several Doc thought he Had EDS but through genetic testing they said he had Marfan . I trust that is the correct diagnosis. Anyway the clinic there is great and have taken great care of my son
    • Tricia March 11, 19:40
      Your comments ring too true. It's been over 5 years trying to get better, but only getting worse. A friend told me about EDS and now I want to go to Children's but my doctor won't refer me and wants me to go to a Rheumatologist in their network that has no experience with EDS or hypermobility. I'm looking to change Doctor's to someone who will refer me to the Cincinnati Children's Connective Tissue Clinic. Where did you end up going to get a diagnosis or help?
    • Heather October 15, 22:11
      I am not sure about where you live, but I know at Vanderbilt of Nashville where I got diagnosed it is a children's geneticist that does the diagnosing. I am 36 and was not diagnosed until last year. I have hypermobility EDS or EDS type III. I was told that it is one of the few genetic disorders that is normally diagnosed by a children's geneticist. They may only be that way here, but it is worth looking into.
  4. […] Click here for an article written by Dr. Neilson […]
  5. Anna Johnson October 12, 21:54
    I fit in 2 of these stories mentioned. I am a 26 year old mother of one and I have had growing pains all through my childhood doctors always said that it could never be fixed. when I was 15. I fell at home and dislocated my knee and ended up breaking my kneecap in three places and have to have surgery. I have had 5 surgeries since then on both of my knees and have also been diagnosed with EDS. I continue to have body aches and pains major knee issues with this location and severe migraines. They say that my body aches are like fibromyalgia and they say that if I stop moving and the positions that stretch my joints bad we stretchiness will go away. during my labor I dislocated my hip and had a very hard delivery process. My daughter is now one and also is showing some signs of being extra flexible. It's nice to know that there is a doctor out there that might be able to help me help her understand what's going on because I'm pretty sure she has it as well. Thank you for sharing this information.
  6. Beth November 13, 20:55
    Thank you for this write up. I'm 35, and am a 9/9. I was the first two examples, and was finally diagnosed a year ago, after 20 years of chronic pain, it was a neurologist who put the pieces together. Now that I know what I have, I have been able to have my 6-year old diagnosed, and have gotten her preventative care to prevent her from being where I am today. Could you share with us your opinion on whether a 4 year old could be diagnosed based solely on her flexibility and my positive diagnosis?
    • Derek Neilson, MD
      Derek Neilson, MD Author November 19, 09:30
      Hi Beth, We consider 4 years of age to be on the borderline of when we might make a diagnosis of Ehlers Danlos, Hypermobility Type. We know that most children display some degree of hypermobility that may begin disappear at around 4 or 5 years of age. Therefore, a diagnosis at too young of an age is unreliable. Most children at this age do not have a lot of problems, although we may see some — such as lower tone, constipation, etc. So, for that reason, we often do not feel pressed to make a diagnosis right away. Additionally, we now want to be preventative for our children, but the ability of a 4-year-old to actively participate in physical therapy is limited and requires a lot more effort from the parents. As such, if there are no active problems, we can often wait to make the diagnosis at an older age when findings will be more convincing and compliance with therapy will be higher.
      • JENNIFER November 30, 11:22
        Hi Dr. Neilson! I found this article and thread doing a search on physicians near me that specialize in Ehlers Danlos. My daughter is 4.5 and was recently diagnosed with hypermobility by a pediatric physical therapist. She's incredibly flexible. When you pick her up she is very floppy and wobbly (for lack of better terms). Right now she is doing weekly physical therapy for strengthening and coordination. And we had to order orthotics. I am looking at getting her evaluated for EDS (she has a background of tooth decay issues, couple with tongue and lip tie corrected at 9 weeks old, and is starting to complain of ankle pain every so often). What age do you think it's worth coming to your clinic for an evaluation?
        • Derek Neilson, MD
          Derek Neilson, MD Author November 30, 13:33
          Hi Jennifer, Many children under the age of 5 will be hypermobile, but will grow out of it. We recommend at least 5 years of age for evaluation, but that number varies. Some say the disorder should be diagnosed in children 6 and over.
  7. sharon miniard January 13, 16:40
    I am a nurse but had never heard of EDS until I cared for a patient with it. It got me very curious. I have many of the s/s it seems but no one ever diagnosed me. I'm 53, born with bilateral hip dislocations- yep,abduction treatment etc.. I have all the loose joints. Very limber! my knees pop out frequently (at the worst times!!!!) but pop back in easily. I even had a doctor tell me I should be considered disabled because my knees had such severe "drawer sign" laxity. I have never considered myself such. I just joke that my body throws me down, sometimes. I have such smooth skin that my fingerprints don't pick up on medicine scanners. I say I wore them off, working too hard. As a teen, I used to have issues of frequently fainting. I even fainted on a fryer=burning the inside of my arm. I get up slower now. All of my family has large brown eyes and thin lips. My mother was diagnosed with brain aneurysms and has had retinal issues and my 48 yr old health nut brother had a vertebral dissection stroke. I have had an artery rupture in my finger once. All these things were dealt with separately. No dots were connected. It seems my family may have vascular EDS. My family has always said those that inherit "the hair" just don't live as long.(curly hair that goes gray early). Plus all of my moms family had heart issues very young. where do we go to find out since we are adults that don't have the same doctors.
    • Derek Neilson, MD
      Derek Neilson, MD Author January 15, 08:42
      Dear Sharon, Ehlers Danlos is a condition that has a lot of different subtypes. These subtypes are separate, meaning that you can't turn from one type into another, but there can be overlap between them. The most common type is the hypermobile type, which makes up the majority of patients we see. For the hypermobile type of Ehlers Danlos, we often see mild changes to the blood vessels, such as varicose veins. In our hypermobile patients, it is very unusual to see the blood vessel problems you describe. With the family history you mention, I would encourage you to see a geneticist to evaluate the types of Ehlers Danlos that are more likely to show the arterial findings. Derek Neilson, MD
    • sharon miniard January 23, 15:48
      Thank you for the information. I forgot to add that me and my brothers and all three of my children have tons of stretch marks. They cover any part that grew, breasts..male and female, hips, biceps, waist, back, sides. my boys are body building and are covered in purple stretch marks, especially their biceps, armpits, chest and back. they are only 21 and not overweight. They did not inherit my flexibility issues. I have had varicose vein issues since I was 20. I tried to get them removed but the surgeon said no back then. He said I would need them for a bypass when I was old! Anyway, Is there a recommended geneticist in Cincy for EDS or a favored group?
      • Rachel Camper
        Rachel Camper January 27, 08:32
        Hi Sharon, Our genetics service does see adults: http://www.cincinnatichildrens.org/service/h/human-genetics/services/ You can contact them at 513-636-4760 for more information.
  8. LeeAnn January 14, 15:50
    I am 33 and can remember having pain, headaches, IBS and sprains all throughout childhood. The older I have gotten the worse all of the above have gotten. Doctors, friends and family have been dismissive all these years. As an older teenager and as an adult I have had MANY episodes of tachycardia and have had to have 2 cardiac ablations. I have had multiple ortho doctors, GI doctors, neurologist and more. Nobody mentioned EDS to me until I went to a Podiatrist for horrible foot pain. She immediately noticed the excess flexibility in my feet and ankles and recalled that I had mentions IBS and migraines and etc. A few days after my appointment, she called me and shared her idea that I could have EDS and I might want to look into it. Believe it or not I shrugged the idea off myself because I had been told and treated for so long like I was crazy that I had given up. A few weeks later I was talking with a friend and she mentioned to me that she was concerned about me and that she had a condition called Ehlers-Danlos and really felt that I might as well. Even though this was the second time it had been mentioned, I hesitated to believe it. (Partially because I was scared) Then about a month later, I was walking and my ankle gave out. This has happened multiple times and I have sprained both ankles frequetly and even fractured both feet at some point due to falls. This time my ankle did not heal well at all. When I went to the new ortho doctor I mentioned to him that on two separate occasions I had been told I might have EDS. He looked me over and said that it was definitely possible. Finally, I made an appointment with a geneticist. He did an extensive family medical history and a physical examination and determined that I indeed do have Ehlers-Danlos. I have since done physical therapy for months for the ankle and have at least regained all of my movement back in that ankle. I am now also seeing a PMR doctor as well as a rehabilitation specialist that is showing me ways to strengthen my muscles to help ease the stress on the joints and connective tissue. I have now also been referred to a rheumotologist that I will see soon.
  9. Kathleen Ludwig January 22, 14:59
    My daughter is 16 years old and experiencing a lot of eds related pain. I heard there is a clinic available to help. Please give me information if such a clinic is available. Any information available to help her with eds syptoms or helping with the pain would be greatly appreciated. Sincerely, Kathleen Ludwig
    • Rachel Camper
      Rachel Camper January 23, 08:44
      Hi Kathleen, Our pain management clinic treats children and young adults who have chronic pain related to EDS. Their phone number is 513-636-7768 and here is their website for more information: http://www.cincinnatichildrens.org/service/p/pain/services/pain-management-clinic/ Rachel at Cincinnati Children's
  10. Maria April 11, 08:11
    I'm 35 years old I've been trying to locate a doctor in my area that has knowledge in this area of EDS I was told by podiatrist that he thought that was what I had about 4 years ago after researching the pain my teenage years finally made sense multiple dislocations of the hip and knees pain in my legs. I have scoliosis and mitral valve prolapse which is also symptoms I deal with migraines daily. I went to rheumatologist recently he was very through and ran multiple test check me for lupus, fibromyalgia and RA and all test came back clear I mentioned to him what my podiatrist said about EDS he said he was a smart man and sent me on my way. Does anyone know of any doctors in South Dakota that have knowledge in this field?
    • Stasch August 24, 15:41
      Maria, have you had any luck finding someone? Did a geneticist diagnose you? I'm in Sioux Falls and I am trying to get a good geneticist who can diagnose me. I have 3 bulging disc and cervical cranial instability.
      • Cheryl Eggers. October 07, 08:25
        My daughter was just diagnosed with EDS-H by Dr. Davis-Keppen at Sanford Children Specialty Clinic in SF. If she can't see you, ask who can.
        • Stephanie Stasch October 10, 00:23
          Thank you so much Cheryl! The drs here have no clue on what's going on with me or even know what to do.Im 24yrs old, I suffer from Chiari malformation,POTS,Cervical Cranial instability,tethered cord and EDS.I had to see a neurosurgeon In New York for my chiari and he Told me he didn't doubt that I had EDS I showed all the signs.very frustrating getting answers here in South Dakota the hospitals should be more aware of this condition and how serious it can be when we go to the ERs for problems. I wish I could find more Edsers in South Dakota. Who would like to start a support/awareness group!
    • Cheryl Eggers September 20, 06:46
      Another SD resident here, my daughter has all the symptoms of type 3, including hypermobility, gastroparesis, scoliosis, Raynaud's, food allergies and orthostatic hypotension, and joint, muscle and skin pain. Has anyone found a doctor in SD that can help with diagnosis?
  11. Elizabeth Corbin April 13, 09:26
    I have a 10 year old daughter who was diagnosed with EDS and she has a lot of chronic pain and GI issues. I'm looking for Pediatric GI that specialize in EDS.
    • Kenneth Goldschneider, MD, FAAP
      Hi Elizabeth, I'm not sure where you're located but our specialists would be happy to see you here. 513-636-4760 or skeletaldysplasiacenter@cchmc.org
      • Elizabeth April 21, 17:50
        Can my daughter still be seen at the number you provided me? She has been diagnosed with EDS. Is that the number for an appointment? Sorry about the questions. Just font want to go in circles.
        • Rachel Camper
          Rachel Camper April 24, 08:39
          Hi Elizabeth, Yes, the 513-636-4760 number is the best place to schedule an appointment for a child diagnosed with EDS.
  12. Steven June 16, 09:32
    Hello, can you recommend a doctor in the North Conway , New Hampshire area?..Or even the New England are? Thank you Steven
  13. Aimee June 24, 08:29
    Hello, I am seeking help for my daughter. I am 30 dx EDS 3 1 year ago with symptoms back to preteen. My sister also has EDS. My daughter was seen last year at 6. She scored 7/9 Beighton, high narrow palate, visible blood vessels throughout her back, low muscle tone. She had GI problems including vomiting and constipation for a few months that resolved with medication. Docs said we have to wait until she is older to DX b/c symptoms could disappear. We switched insurance and she is 7 now. No symptoms have resolved. She visits the nurse several times a week for ice packs. Can you give me your professional opinion on whether or not we should pursue diagnosis? It would allow her to get help at school. She is smart- top of her class in reading and math but writing is laborious. It takes so long, is sloppy, and causes her frustration. Thank you.
    • Aimee June 24, 08:31
      We are in San Diego and will be seeing Lynne Bird
    • Derek Neilson, MD
      Derek Neilson, MD Author June 25, 08:51
      Hi Aimee, 7 years of age would be an appropriate time to pursue evaluation. We typically do not make the diagnosis of Ehlers Danlos under the age of 5 years, due to the fact that young children are typically flexible and can grow out of it.
  14. Aimee June 24, 08:33
    Also do you have Ny suggestions for approaching a pain management doc with no knowledge of EDS?
  15. Angela O'Neil July 01, 02:38
    I know this might be a silly question, but isn't there a blood test to confirm EDS, and if so, if the patient is suspected of having EDS, why not just skip the lengthy guessing games and just get to testing the blood?
    • Derek Neilson, MD
      Derek Neilson, MD Author July 06, 09:38
      Hi Angela, genetic testing is useful for some types of Ehlers Danlos syndrome. For the vascular type, a genetic change in COL3A1 can be found in about 97 to 99% of cases. That is a very useful test and we use it when we suspect the disorder based on our clinical assessment, but we do not use it as a routine screen for all the patients that walk through our door (read on for why). For the classic type, a genetic change in COL5A1 or COL5A2 can be found in 90% of the “severe” cases, but is closer to 40% in mild cases. However, most patients we see have the hypermobile type, which is probably 100 times more common than the classic type and 1000 times more common than the vascular type (estimates from our patient population). For the hypermobile type, genetic testing finds a change in the TNXB gene in about 2 to 5% of cases. In other words, 95-98% of the time, genetic testing for the hypermobile type will give a negative result. Not only does this represent a big waste of time and money, but it also does not substantially change our management strategies for hte hypermobile type or the classic type. Screening all of our patients with COL3A1 testing would be normal 99.9% of the time, so we only test those patients with suggestive medical problems or specific findings on family history. We envision a time in the future where routine genetic testing will be useful and provide management insights, but it requires much more genetic research to make that possible.
  16. Anna July 21, 16:57
    Hello, I am a 24 year old violinist studying at the Cleveland Institute of Music in Cleveland, Ohio. I have been struggling with chronic pain, fatigue, dislocating joints / tearing cartilage, and "blacking out" from POTS since I was 11 or 12, but everyone thought it was "the stress of my career" or I was faking it to gain attention. When I finally moved to Cleveland to attend CIM, I started working with some amazing doctors at University Hospitals of Cleveland (the doctors who teach / train the doctors at the Cleveland Clinic... they seem to have more research in the "odd" cases than the Clinic). I have been diagnosed with EDS (definitely the Hypermobility and most likely the Classical types), chronic "end of the world" migraines (very scientifically named, right?), neurally mediated POTS, Ankylosing Spondylitis, Lupus (or a cousin of it) as well as a host of other issues. My medical team is great and very knowledgeable with all of my health conditions, except that none of them are super comfortable / have treated a large number of patients with Ehlers-Danlos. This is an especially tricky case because part of the treatment for Lupus / AS pain includes stretching, and stretching is considered a "dirty word" for EDS patients, as that could encourage more dislocations. Do you know of any doctors who specialize in EDS in the Cleveland, Ohio area? If not, would you consider seeing a patient occasionally in Cincinnatti, then working with my medical team in Ohio via phone, e-mail or skype / facetime / etc. ? Thanks for ANY help you can give me! Anna
    • Derek Neilson, MD
      Derek Neilson, MD Author July 23, 09:38
      Hi Anna, There is an active support group in the Cleveland area that might be able to make some recommendations: http://www.chronicpainpartners.com/supportgroups/local-support-groups/eds-cleveland-oh/ I do know that Dr. Anna Mitchell at University Hospitals has seen patients with EDS. Hope this helps!
  17. Wendy July 26, 20:31
    I was diagnosed officially with EDS 1 week ago in Houston, Texas. My Rheumatology first suggested I have Ehler Danlo in March, but ruled it out as my skin was merely soft and not stretchy. I went home and researched and quickly concluded he nailed my diagnoses 5 minutes after meeting me. I am 45 years old and have been to numerous specialist treating each problem separately. I am adopted and have no family history. I tend to partially dislocated joints. Except I break my toes a lot with minimal trauma. Example, I hit my toe on the leg of a chair when I walked in the kitchen. My toe went to a 90 degree angle. I sometimes break 2-3 toes at a time. Are there other people that break fingers or toes often with Ehler Danlo? My 13 year old daughter has broken 9 fingers playing sports. Although I don't think that sounds normal, her doctors think that as she gets older her bones will harden and not break so easy. I suspect she may what I have. She loves sports. Her first question after my diagnoses was to ask me if people with EDS have to quit sports like basketball or volleyball. Since I don't play either of these sports, I am sure she is curious for herself. Luckily Austin Texas does have genetic doctors for children. I will still have to drive 3 hours to Houston for my followups.
    • Dianna November 10, 22:18
      Where did you get dx at? I talked to my dr the other day, and he told me that it was so rare a disease, there was no way I could have it. When I stand up I look like an alien bc my knees bend so far backwards. If I am not careful I dislocate on a regular basis, so high a palate combined with TMJ that I was told I could never wear dentures, very soft clear skin that you can see right through, migraines, ulcerative colitis/ibs, and so on and so forth, but my dr said I was focused on things I shouldn't worry about, patted me on the head and sent me out the door.
    • Holly April 30, 03:14
      Hi! I was recently diagnosed here in Minnesota where I attend university, however, I'm looking for a PT to switch to for the summer when I'm back home in Houston. Any suggestions?
  18. Jordan July 28, 14:06
    I was finally diagnosed with joint hypermobility syndrome last week, have tmj, chronic costochondritis, have ALL of the beighton scale criteria, my cervical spine and lumbar spine are hyper flexible and because of this and my raynauds suffer nerve damage in my left leg. But the rheumatologist refused to even consider eds because apparently I don't bruise enough (which is not true I lightly scratched my arm this morning and it bruised). I have the involvement of most other organ systems that goes along with everything I've seen on eds. Most sites list jhs as the hypermobility type of eds, if that's true why didn't the 'top rheumatologist at Yale' say that? Do you know of anyone who specialises in eds in Connecticut?
  19. Gail August 19, 12:52
    When I was 66 I finally was told I have HEDS. I had so many issues growing up, starting with the growing pains, dislocations, subluxations, heart problems, premature babies, and the list goes on, were answered. My question is, one of my sons obviouvly has EDS, but my other son is now 40 and doesn't believe he has it, but the worse part is that 2 of his children to me have it. His wife just graduated from Med School and she was taught the whole thing about rare and you have to have totally flexible joints, etc. Their 11 year old has had "growing Pains" for years and they are getting worse. He has headaches all the time and is fexible, but just not as flexible as I am. He has difficulty concentrating in school as did I and my son. I had very low self esteem growing up, because I reallyy thought I was stupid. I never had the energy to feel like keeping up with everyone, so I pushed myself to do way more than I probably should have been doing. I was a ballet dancer and extremely techinically good at it, I played field Hockey and in every game my knees gave out, so I sat on the field put myself back and got up and finished the game. I just walked down the street and was on the growing. I would have fluid withdrawn from my knees all the time, but no doctor said to stop playing field hockey I had heart valves replaced, again the list goes on. I'm 70 now and although I always had a lot of pain I never payed attention to it. Frankly I think I didn't even realize what it felt like not to have pain. It was my base line until now where I feel like I have a different layer of pain and have to walk with walking stick. I had one knee replaced 4 years ago which has made me so much worse. MY question is how can I get a doctor that is my daughter- in -law and my son to listen to me. I feel so helpless. I want to help my grandchildren and my son, but they just think I am obessed and that anything on You Tube is not worth listening to. WHat do I do? I have not been tested geneticaly because I am on Medicare and that doesn't pay for it. Or I don't know how it all works.
    • Derek Neilson, MD
      Derek Neilson, MD Author August 21, 13:44
      One of the biggest problems in medicine is “you can a lead a horse to water, but you can’t make it drink.” This applies not only to patients and their willingness to follow medical advice, but also to doctors who have a hard time accepting change. In fact, much of what I learned in medical school has undergone dramatic changes in the way we understand it. When I finished medical school and residency, the information we know now about chronic pain and in EDS and other problems was fairly new and not well disseminated. EDS was also thought to be rare, which cannot be true because our genetics clinic sees around 900 patients per year. That’s not counting what is seen in our pediatric rheumatology and pain clinics, independent of us. At that rate, if EDS was rare, we would have seen all the patients that could be found within the entire states of Ohio, Indiana, and Kentucky. Instead, most of our patients are from the immediate area surrounding Cincinnati. I discuss this problem in a seminar I gave for the EDSAwareness group. The link is here: https://youtu.be/BvUpIUEQq1c . It may be helpful in prompting a discussion about the condition. On the flip side, boys tend to do much better than girls, on average, so my level of concern tends to be less. For hypermobile EDS, I almost never perform genetic testing, as only 2 to 5% of our patients actually have a genetic change that can be found.
  20. Gail August 24, 21:12
    Dear Dr. Neilson, Thank you for your response. It was your video that I had my daughter -in-law look at, but she decided you were talking about something else. What that something is I don't know. She just stopped watching at that point. There is no way of talking about this to them. She went to U of Maryland medicial school and I looked up there curriculum last spring and under EDS it said they teach their Orthepedic students that it is rare and the numbers are 1-40,000. Baltimore has some of the best doctors for EDS, so I don't get it. When you read the definition of EDS they say doubled-jointed and make no mention of the problems due to connective tissue and the Whole GI system, etc. I think through the reading I have done that most Med Schools do not teach it. My question also is that I don't know that I have Hypermobile kind. I have so many of the syptoms of the CLassic kind. I also wonder if my father and mother had it, but one was classic and one VEDS. my father died young of an aneurysm. Both of my brothers just died sitting in a chair, but no autopsys. I dont know a lot of history. /Users/gailrackoff/Desktop/SCAN0109.JPG picture of me /Users/gailrackoff/Desktop/enhance.jpeg picture of son I'm 70 and spent my whole life wondering what is wrong with me. I want my grand children to know how to help themselves. I read and try to find doctors and talk to my sons. I feel I need a genectic testing. Is there a way of getting a test on Medicare? Sorry to bother you, I've just never seen a place to actually write to a doctor anywhere else. Thank you.
    • Derek Neilson, MD
      Derek Neilson, MD Author August 31, 09:21
      Most of the time, our evaluations do not require genetic testing. The first step is to see a doctor who can make a clinical assessment.
  21. Laurie August 27, 15:02
    My daughter and I have many of the same issues I am reading in this blog. My niece has been diagnosed with Hypermobility type EDS, and I am looking for a Rheumatologist on the east side of Cleveland to diagnose my daughter and myself as well. I have been diagnosed with Fibromyalga and have had severe migraines for 30 years. I have had a partial knee replacement due to dislocations and am getting more frequent dislocations in the other knee as well. My symptoms involve many areas that were always treated as separate issues. My daughter has many of the same issues as well as additional ones. I seek a diagnosis in hopes of preventing my daughter from having as much pain as I have had.
    • Anna December 11, 16:06
      Dr. Anna Mitchell is a great geneticist and has an office with University Hospitals as well as their UH Rainbow Babies Ped's branches and has a fleet of genetic counselors, so that once she helps find your daughter's DX they can help lead you to the correct doctors and provide the support you need to care for her most efficiently. You are already doing a fabulous job by fighting for her and believing that her "hooves" might actually be "zebras" so please take heart in knowing that. Also, Dr. Ali Askari is the Chief of UH's Rheumatology department and they have (I think) 5 amazing fellows who are all familiar with EDS. I have found great support from them, and noticed that, because UH is more research-oriented than the Cleveland Clinic, they are well-equipped to take care of us-zebra-like patients. I highly recommend you contact them, if you haven't already, so that you can start assembling a team of doctors who are ready and waiting to be on your's and your daughter's side if either of you have a flair. I wish you all the best. Hang in there!
      • Laurie December 18, 07:31
        Thank you so much Anna! I appreciate the information!
  22. Mabel September 28, 16:14
    Hello, My two year old daughter is receiving PT services for delayed motor skill development due to low muscle tone. They also found she has very loose joints. her PT began asking me questions and I fit the criteria for this perfectly. My daughter has already been showing some symptoms as well. Are there doctors who can diagnose her this early with it? I am particularly worried that she will age out of the county's infant and toddler program here in MD and therefore not qualify for PT services. I think a diagnosis would go a long way in helping to make sure I can get good services for her. Thank you.
  23. Traua Welch October 23, 11:23
    I need some help.... I have what appears to be EDS, the circulatory kind now, though joint problems are a part of this. I was a gymnast as a child from age 5 to 13. I was hyper mobile. I now have Pelvic congestion syndrome and varicose veins on my legs and unmentionables, I was DX with Raynauds and also Dysautonomia. In July after a hysterectomy it took years fighting for, the Dr. was astounded to find that my "uterus looked like goo" instead of a muscle. I wear glasses. I have 3 different script glasses because my vision is always either ok, bad, or really bad. I'm in pain always. I see pain management in Nov. My daughter who's 13 was DX with EDS a year ago. My 4 year old shows signs. My primary has sent me to rheumatologists believing my theory with no luck. I'm told I'm too old and not "flexible enough", or I'm immediately dismissed when they hear I've bared 7 children with no known miscarriages, eve though my uterus was described as "goo". She's told me that Children's does genetical treatment and treatment with adults... But she has no idea where to find that info for me or how to get me in. Can anyone help me?
    • Rachel Camper
      Rachel Camper December 10, 09:36
      Hi Traua, Please contact our Connective Tissue Clinic to see how they might be able to assist you: http://www.cincinnatichildrens.org/service/c/connective-tissue/contact/
  24. Rita November 03, 16:40
    I am a nurse that has a client (17 year old) with Ehlers–Danlos syndrome (EDS) she is in a lot of pain. She lives in New Port Richey Florida. Do you have any suggestions for providers?
  25. Deena November 09, 17:18
    My daughter is nineteen and was recently diagnosed with Ehlers-Danlos Syndrome Hypermobility type. It took a year to get diagnosed. Do you know of anyone who specializes in this in the Greenville, SC area? She is struggling with the pain and needs to be able to go to college and feel somewhat normal. Thank you!
  26. Roberta Watkins November 16, 15:35
    Hello I'm looking for a doctor in CA that specializes in EDS, my daughter has been to many doctors looking for answers for all the pain she is in, after many years her pain doctor believes she has EDS, she has been diagnosed with hyper-mobility and just had a Aortopathy panel - whole blood and it shows one variant of uncertain clinical significance was detected in the MYH11 gene. Doctors here just told her that they will check her arteries if they show nothing they are not going to do anymore with her, is this right, doesn't sound correct to me..
  27. Jessica Witt November 29, 00:15
    Hello. I have a 9 year old daughter who has had 2 episodes in which she has horrible chronic pain that may start in her legs and last for hours. Sometimes she gets headaches and neck pain that can last all day or back pain that she says burns. She missed 3 weeks of school last year in May and almost a month already this year. She has been hospitalized twice this year and to the ER three times. During these times nothing seems to help. She's been given Morphine and it doesn't even touch the pain. Her pediatrician believes she has EDS hypermobility type. She also has borderline Chiari malformation. Do children with EDS get "flare ups" that can last weeks? She's been in and out of a wheelchair because her legs still hurt and hasn't been able to return to her dance classes because of this. I'm still trying to get a good diagnosis for her with no luck. We've even been told it's all in her head. But what 9 year old girl wants to spend days in bed and in and out of the ER with pain and spending all day crying? We need help getting her diagnosed correctly so we can get her back on her feet.
    • Rachel Camper
      Rachel Camper December 10, 10:53
      Hi Jessica, Not sure where you're located, but here is some information on our Connective Tissue Clinic: http://www.cincinnatichildrens.org/service/c/connective-tissue/default/
      • Jessica Witt December 10, 11:47
        Thank you for the information Rachel :)
  28. Jessica Witt December 14, 09:28
    Thank you so much! It means a lot to hear that I might be on the right track and that I'm doing right by fighting for her. Thank you for the great advice! Love and blessings.
  29. Kari Duffy December 17, 00:57
    I am 54 years old and have been dealing with subluxation of both knees since 13. I was often teased for my ability to hyperextend my elbows, knees and fingers. I have been dealing with migratory joint pain for the past 30 years and tested for RA and Lupus on 3 occasions but am always set-negative. I also have IBS , migraines and idiopathic hives. The past 6 months have been awful with shoulder pain and loss of ROM and strength. I've had multiple Dx from bursitis to rotator cuff injury to frozen shoulder. The PT noted cervical spine issues and MRI shows C5 cervical stenosis. My PCP sent me to a pain clinic and they want to inject cortisone and consider a medial nerve block. When I suggested this is all connected and that I would like to pursue a Dx rather than these separate tx he said the Dx wouldn't make a difference about how I'm treated. I'm tired, frustrated and feel like crazy person. Do I push for an evaluation of all the issues or was this doctor correct in saying it won't impact care? I appreciate any help I can get!
  30. Megen Forster December 26, 13:57
    My son is 16. He started at a young age with joint pain/subluxations and was diagnosed early with dysgraphia. He would cry every time he had to write or color as a child because he said his hands hurt. He is a 5-7 on breightin scale. He used to be able to touch floor with palms until back injury. And he could hyperextended both elbows until developed tendinitis then bursitis in one elbow. After his 2nd dislocation of his r shld and 1st dislocation of r knee. Orthopedic dr referred his to u of m genetics when he was 11. The physician there was great and told us he just had a mild joint hypermobility syndrome. Great. 5 years later through puberty chronic joint pain, several other dislocation/subluxations, broken finger and toes after over stretching injuries, chronic stomach issues, problems with dizziness with standing up and headaches. He just had a labrum repair of r hip with FAI and now is having pain in other hip with only 2 weeks into PT after this surgery. He has no idea where his body is in space with poor proprioception. He also has asthma but had difficulties with control which pediatric pulmonolgist from u of m said was due to small airways collapsing. He is 6 foot and very lean. His fingers cont to get more hyper mobile. He has mvp. We just saw GP in regards to pain control and all of his symptoms. He said he thought my son needed to go back to those "specialists about connective tissue disorders" as this was beyond his knowledge. I am also hyper mobile although less so since older with joint pain. There is also family history including siblings nieces and nephews with similar problems. We live in Michigan but would b more then happy to make drive. My son is this amazing kid who hardly ever complains. I'm sick of seeing him in pain and not having answers. Could we come there to get an assessment?
    • Rachel Camper
      Rachel Camper December 29, 11:05
      Hi Megen, Please contact our Connective Tissue Clinic to see how they may be able to assist you: 513-636-4760 or skeletaldysplasiacenter@cchmc.org
  31. Cindy Gannon January 04, 16:21
    Hi, I'm looking for a doctor in the NJ/NY/Philadelphia area that would be able to rule in or rule out EDS for both me and my kids. I'm 42 and my children are 8 and 9. I can relate to so much of what is said. I've had so many separate medical issues that seem unrelated. I don't know what could be related or not. I've been diagnosed with fibromyalgia and ibs-c, and have been tested for numerous autoimmune diseases. I've dislocated my hip, had my ACL reconstructed, and have osteoarthritis in my hip and spine. I've also been hospitalized in the ICU x2 for afire respiratory failure. I have issues with double vision also. My children's pediatrician was the first to mention EDS regarding my children, ages 8 and 9, when I spoke to him about issues they were having, specifically knee pain for my son, and an ankle that my daughter keeps reinjuring. When we started to go through their medical history, he suspected a genetic connective tissue disease. My children between them have had two trigger thumbs, can pop their joints in and out, my son has complained of "growing pains" in the middle of the night since he was a toddler, three hernia repairs, severe GERD, hip dysplasia that needed double diapering for the first year of life. I actually had to wear a brace on my legs from the time I could walk until I went to Kindergarten because of a problem with my hip, but my mom can't remember exactly what the diagnosis was at the time. They can do the praying hands behind their back, almost up to their shoulders, and the thumb to the wrists. I saw my rheumatologist today and he said he doesn't think I have it because I'm not flexible. I'm actually the opposite, quite stiff. I would love to see someone that specializes in EDS, didn't just learn about it in school, so they can tell us if this is what we are dealing with. If it is EDS, I don't want my children to have the kind of joint pains I have now. Thanks for any guidance you can give!!
  32. Tracy Huebner January 19, 14:35
    My 8 yo was diagnosed with EDS in the Spring 2015. Her hands and feet are affected the most. She has been in PT for more than 7 months for her feet and still has daily foot pain. Her orthopedic doctor now has her in double walking casts. What is your experience with casting someone with EDS to help calm the inflammation and give their feet a rest? It's only been 5 days (of 4 weeks) but she has the same amount of pain in her feet and is now complaining about the pain in her knees (which were never a problem before the casts). Looks like she is hyperextending her knees when walking with the casts because of how awkward it is to walk with them on both feet. Each evening, she actually has striped bruises down the back of her knees. Thanks for any advice you might have, especially with the casts. I worry they may be causing more damage than help.
    • Rachel Camper
      Rachel Camper January 20, 13:25
      Hi Tracy, I reached out to Dr. Neilson and he said that it would be difficult to answer your question via this format and without the benefit of an in-person visit. You might want to try contacting the Connective Tissue Clinic to see how they might be able to assist your daughter: 513-636-4760 or skeletaldysplasiacenter@cchmc.org.
  33. Michelle Pena January 25, 22:00
    My 16 year old daughter, has issues with her knee caps sliding out. She has been through several rounds of therapy to strengthen her quads. Within the last year she has been having issues with severe pain around her shoulder blade also her hip and wrist have been causing her pain with no injury or trama to cause the pain. Her NP has often told us that she is double jointed and that that could be the cause of her pain. Growing up she often had leg pain but we were told it was just growing pains. Today we went back to the NP because her shoulder was causing her pain again. At her wits end her NP googled my daughter's symptoms and told us about EDS. She said she was going to speak with the doctor and see what we could do. Are there any doctors in the San Antonio, Corpus Christi area that specialize in this. The last year has been a cycle of pain in different body parts for her and we just really want to know what is causing it.
  34. Kathy June 08, 22:15
    When I called CCHMC for an appointment, I was told you no longer see adults (new patients) in your clinic. After many years of puzzling doctors in several part of the country, my PT suggested I may have EDS. I have many of the symptoms. If you are not taking new patients, what clinic/expert can you recommend in the area or region. I would like to have a comprehensive eval. Thanks.
    • Rachel Camper
      Rachel Camper June 10, 10:05
      Hi Kathy, Do you live in the greater Cincinnati area?
      • Kathy June 10, 17:23
        Yes Rachel, I live in West Chester. I have a few names of doctors in Dayton but when I called one told me that she wouldn't diagnose. I would need to be diagnosed first and then she would treat. The other wants to me have doctors send years of records to them before he will schedule with me. I can bring the records with me especially since I am sure many of these doctors are no longer practicing medicine as I saw them over 45 years ago. Hoping there is someone in our area although I am not opposed going to a clinic that really knows EDS. Thanks.
        • Rachel Camper
          Rachel Camper June 15, 08:31
          Hi Kathy, While we will only see patients up to age 25, we do offer teaching sessions for adults of all ages who would like to learn more about the condition and how to manage it. We do not make diagnoses or provide specific management advice at that session, however. More info here: http://www.cincinnatichildrens.org/service/c/connective-tissue/default/ If you are hoping for that information, you might try a geneticist or rheumatologist. Hope this helps!
  35. Question June 15, 23:29
    Does anyone know any specialists in Connecticut?
  36. Question June 15, 23:32
    Does anyone know any specialists in CT that sees adults? If not, anyone near the CT area that is willing to see adults? Also, it sounds like this is true, but is it common for adults to be more hypermobile as a child but if left untreated and if having more limited movement due to exercise restrictions later have stiffer joints as an adult? Just curious. Thanks!
  37. Lisa June 27, 16:41
    My daughter has gone through the progression you have listed in the article to the letter. She recently spent time in a Children's Hospital for migraines that would not go away. I was then referred to another hospital who accurately diagnosed her with Joint Hypermobility Syndrome causing the migraines. This doctor only specializes in migraine therapy. My daughter is starting to have additional symptoms and I would like to get her with a doctor that specializes in the field of joint hypermobility to know what is normal and what is not, but have not found one. I live in Iowa.
  38. happyrx July 19, 09:18
    I am currently looking for a specialist in Northern New Jersey to evaluate my eleven year old. I could also travel to NY or CT. Thank you!
  39. Georgia August 10, 13:48
    I was diagnosed with HEDS by Dr Trapane in Iowa City, but i live in a very small rural area in NW Iowa. In the area I live, none of the doctors have heard of it, my doctor was overwhelmed and recommended I find someone who knew more because in April I had to be life flighted to Omaha Mercy due to acute respiratory failure. While there they found that I had the flu and think this was a complication of the flu and EDS. I need to find a great internist who can manage my care and help me figure out what specialists I need to see, what tests need to be done and how to live with this. I also work with a great physical therapist who is helping me work through the Kevin Muldowney protocol, which is helping me with the pain. Do you know of anyone in Omaha that can help me, or anywhere in Iowa? I own a business and it is very difficult for me to travel for longer than a day or 2. Thank you so much for all your help!
  40. Jess August 12, 10:18
    Mayo clinic in AZ has a connective tissue disease clinic
  41. Stephanie September 16, 17:00
    My son was diagnosed with Chiari Malformation in 2012. He has been experiencing symptoms for the past 6 months ago or longer. In September of 2013, he went to the doctor with chest pains and was told it was Costochondritis. These symptoms did go away and were not troublesome up until about 2 months ago. A friend with CM explained that I needed to have my son tested for EDS because of the trouble with Costochondritis. Our PCP is referring us to a cardiologist though I feel this is not a step in the direction that we need to go.
  42. Gate Holloman November 24, 02:23
    Interesting..I was taken to the Dr. several times for severe leg aches and the growing pain dx was always given. My mom was an acrobatic tap dancer and could do astounding maneuvers like being able to have her leg raised up straight above her shoulder. I am 68 and can still do the palms flat on floor with legs straight and finger bending.
  43. Lisa December 25, 01:16
    Hi! Are there any Drs in the Denver Colorado area that specialize in ehlers danlos?