"Suffering the Slings and Arrows of Outrageous Fortune"

General EDS Questions

If you have a general EDS question, feel free to ask it here.

Things like wheelchairs, bracing, dislocations/subluxations, injuries, diagnosis, etc. come under this topic.

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Comments on: "General EDS Questions" (13)

  1. Hello, my name is Samantha and I have a question about children. I haven’t been officially diagnosed but I do believe I have eds. Anyways I have three boys. All of which have trouble sleeping. My Two year old wakes up screaming his legs hurt or his hips hurt every night. He has dislocated his knee, he is always hurting himself bruises everywhere and joints hurting. My three year old has honestly never slept through the night. Once in awhile. However he doesn’t say anything hurts he just cries. Throughout the day he says he cannot walk because his legs and feet hurt. He is very fatigued and tired through the day. How did your daughter act when she was a toddler? What were the red flags for you? The doctors aren’t taking this seriously. I am desperate to get myself diagnosed one for my children and two so I can get treatment. It’s gotten so bad that I can barely walk most days, the pain never stops, and I have strange symptoms like hearing loss, migraines, extreme fatigue and on and on.

    How did you handle this with your child? I am so desperate for answers I am trying to get ahold of geneticist, I have a blog at zebraliving.wordpress.com and I have posted YouTube videos. Any advice, help, insight would be a lifeline! Thank you

    • Well, I hate to say it, but what you are describing about your kids sounds a lot like my daughter (and son) when they were younger. Red flags were: ‘growing pains’; leg pain at night, especially after a day of walking or playing outside; leg pain when walking for any distance – my daughter needed to ride in the grocery cart at times until she was 8 or 9; fatigue, getting more tired than other kids did during the same activity. My son, who is 18 now and not really affect by EDS at all, would typically get pain at night after playing hard outside while my daughter would get pain at night for no apparent reason. Many a night she would call me in tears – I would get her Tylenol and rub her legs, make sure they were covered well so the cold wouldn’t make them cramp worse. Heating pad, long, warm pants, a warm bath before bed all helped but obviously didn’t solve the problem. The doctor never had a good explanation other than ‘growing pains’ which I now know is nonsense!

      So, yeah, what you are describing is very much what we experienced. And your symptoms are much like my daughter’s now that she is 14 and has been very much affected by EDS and the other stuff that comes with it.

      I would definitely advise you to go to a

        knowledgeable

      geneticist. Dr. Tinkle is in Chicago, Dr. Neilson and Dr. Schorrey are at Cincinnati Children’s, Dr. Francomano is in Baltimore as is Dr. Levy. I don’t know where you are, but you may need to travel to get to a good doctor. On the other hand, if you can get on the EDNF message boards, you can ask about a recommended geneticist close to you. There are always people talking about who has been helpful and who to avoid, so that would be an excellent resource for you. Many of the ones I have mentioned will follow up with you once or twice a year and help guide you to ongoing care from the various specialties.

      The good news is if you can get diagnosed, it will be easier to get your kids diagnosed or vice versa. For that matter, you may be able to schedule a block of appointments so you and your kids can all get in at the same time. They may not want to diagnose your 2 and 3 year olds yet but if there is a clear family history (and it sounds like there is) they will at least watch them closely and treat them, if not go ahead and diagnose now. The other good news is, if you can get someone to look at them, they will be able to get to PT and been under a doctor’s care so their prognosis will be better. Shoe inserts can help a lot with foot, knee and hip pain, as well as fatigue, so an EDS savvy doc will help you get some. There really are lots of things to do that can improve their quality of life and yours. It will be a long journey but you are not alone.

      So:
      1) Get on Inspire http://www.inspire.com/groups/ehlers-danlos-national-foundation/, make an account and start a conversation about if anyone knows a good geneticist in your area. You might use the search bar to search 1st, in case someone has already asked. Do whatever you need to do to get yourself diagnosed because it will help your kids get diagnosed in the future and treated in the meantime.
      2) Look into joining a local support group – they will have great suggestions on local docs and will help support you.
      3) Look into shoe inserts for your kids (and maybe yourself!)
      4) Find at least one good local doctor who will listen and help you manage this. They don’t have to be an EDS expert, but they should be willing to learn and help!
      5) Hang in there – if I can answer any other questions, let me know!

      Beth

  2. Beth Gress said:

    How do you go about getting a diagnosis for EDS? What are the tests that are run? My daughter has vague symptoms of joint pain, hurts when she walks long distances, and other stuff that comes and goes. I have passed off most of this stuff as “drama” but I would hate to be wrong.

    • Sorry it took me so long to answer – I’ve just been busy and distracted!

      From the symptoms you are describing, it certainly sounds like a good idea to look into seeing a specialist and being evaluated for EDS. I couldn’t say for sure, but the little you shared is suspicious. So, I think you are on the right track to start asking questions and looking for answers.

      As far as getting a diagnosis – I don’t know where you are, but the best course of action is to make an appointment to see a geneticist who is knowledgeable about EDS/ connective tissue disorders. Any doctor CAN diagnose EDS, but many won’t and even some geneticists know little about it. There just isn’t enough knowledge. So, you need to get to one of the experts – Dr. Tinkle in Chicago, Dr. Francomano and Dr. Levy in Baltimore, Dr. Neilson and Dr. Schorrey in Cincinnati. They are the experts, although there are other doctors who might be able to diagnose. The ones I mentioned all have pretty long waiting lists, so you will want to get scheduled asap so you don’t have to wait any longer than necessary. (You can also go on to the EDS message board on Inspire – https://www.inspire.com/groups/ehlers-danlos-national-foundation/ – and ask for suggestions on who can diagnose you in your area, if you are not close to one of the experts. They are worth travelling to, if you can swing it!

      As far as tests, there are genetic tests but they have varying degrees of accuracy. The one for the vascular test is 99% accurate, the one for classic is 50% accurate, but there is no test for the hypermobility type because the gene has not been identified yet. So, if you are suspected to have classic or hypermobility, you probably won’t have any blood test done – it will be diagnosed by a physical exam and an evaluation of your medical and family history. A knowledgeable doctor will know what to look for. They will do the Beighton Score and ask questions (http://hypermobility.org/help-advice/hypermobility-syndromes/beighton-score/) Some of the experts will follow you after diagnosis, seeing you every year and referring you any other specialists you need to see and making sure you are getting the treatments you need.

      Physical Therapy is important, to strengthen the muscles and protect the joints. Treatment for POTS, autonomic dysfunction is important as well, if you get dizzy and faint from standing. EDS has so many conditions that exist beside it, and there are treatments for them.

      Hope this helps! If you have any other questions, please let me know. There are good reasons to seek a diagnosis – it really can change your life and prevent more problems in the future.

      Good luck and thanks for commenting!

  3. 86Marie said:

    I posted a very long question under GI since her pain is always around her naval, like a migraine in her belly…I am reposting here so maybe the right caring people will see it and offer ideas.
    ….We are 4 years into finding help with our daughter’s severe painful abdominal condition. She jumped off a swingset, came home two houses with a serious nosebleed but the next day started severe head and abdominal pain. Two years of seeing too many doctors and teams at Children’s, NO one knew what was wrong with her!

    I took her to my PT for myofascial work waiting for our apt at the Cleveland Clinic or Columbus Children’s hospital….the PT asked who was treating her EDS? We did not know what that was.

    Back to our pedicatrician, to genetics at Children’s where they AGREED! Three days prior a well known Neurologist ready to retire told me it was NOT EDS or Abdominal Migraine but now they say IT IS? He said it was Munchausen’s but gave NO ideas for treatment.

    We have been to the GI team 3 times for months each, to 3 other GI doctors, to Neuro, to the Headache clinic until someone said Abdominal Migraines do not exist and kicked us out, to Psych 5 times for evals, to the Pain clinic 3 rounds, the first he tried to say she attempted suicide by taking her own supplements and where did she learn that type of desperate behavior… so our 11 yr old has been through a lot. We paid to put her through their pain clinic boot camp last year, two weeks inpatient intense training with PT, OT, psych, doing her school work, teaching coping skills…and finally she was STABLE! after being home a few weeks. Until a few months later, some virus..

    last October she came down with severe sore throat, abdominal pain radiating around her belly button, weakness, dizzy, pale, nausea, not wanting to eat or drink due to the pain, so they tested her for mono…negative. She had severe headaches too. The third visit back to the pediatrician, they gave her Tylenol #3,the first real pain killer! For two days she was great! But now we are told to not give this. The pain syndrome so bad, they said to go back to the Pain Team at Children’s. I called of course, several times but the apt was not until JANUARY! We struggled so hard, taking her to ER at times but the Toradol plus Reglan only lasted less than a day. I begged to have them try something else.

    Back when the headache clinic allowed her there, they were seriously discussing admission for a trial of DEA? a migraine treatment IV and then have her on something. In the early days they tried Elavil which helped a lot it seemed until they increased her dose. She was asymptomatic except occational nose bleeds but the NP insisted that was part of this. from 10mg she was to slowly go to 30mg but then we lost our child. She had break downs like we never saw before. We begged to lower the dose, but the pain came back, and we had to change departments, we were scolded for wanting to change meds. Once we tapered her off, our kind gentle girl was back, but now in severe pain spells. She gets too groggy on Depakote, weirded out on Prozac, none of the GI meds have helped.

    they use words like functional bowel, on GI said she had to just go to school, that he has kids with bleeding bowels that do not stay home from school. My child WANTS to be in school! We’ve taken her to 3 bio feedback professionals and that is how they want her to cope. For now they have her only on Cymbalta 20mg and Clonidine 0.2mg to help her sleep, but it has not worked yet and its been 6 weeks. She says it makes her nauseated and hung over. She is coming to me several times during the night trying so hard to cope. I make her warm decaf herbal tea, talk her through guided imagery, run her a bath, do some massage, but I’m now critically ill from pushing so hard. We have no real support for we chose to adopt and that upset my parents and siblings. I suddenly became the scapegoat and bullied by my own family. We cut ties only for my sisters to file false charges that nearly took our children and put us in prison. STRESS? Over the top. Things you would never expect.

    I know stress is a big part for her too so we as a family have always worked with a team of therapists. No one prepares you to realize your own parents would do things like they have done to us, to realize you are not respected, supported or loved. They went to our friends to create toxic situations that pushed our friends away after this long. But the pain of their words and now we are so hurt losing and losing people as if its one funeral after another in our daughter’s mind.

    we were told we could NOT have a refresher in the hospital program. I asked for three days, now she is IN pain. They said I had to take her to Cleveland for three weeks. I clearly said we could not. We have two younger children who are in need of mommy, and Dad has to work…we have no one to take care of them. I’m too frail to even go but that did not seem to matter. I was fighting back tears and the Dr shook our hand and left the room.

    Why do they not prescribe pain control for EDS and Abdominal Migraine? They said we could take her to ER any time, but that does NOT work!

    I do my best to encourage her! To make her life colorful and find joy in the moment. To distract her with laughter but listen to her soul. To hold her hand as she breathes through the shards of glass churning in her belly day and night. I hold my younger two, reading with them or just snuggling in hopes that even if I’m now too weak to talk, they know they are loved and forever will be!

    I had a heart attack from the EKG, an endocrine disorder that can be fatal at several points. I have to keep my blood pressure from spiking but I have been doing my own prayer, meditation, seeking help…only these spells they think are from adrenal tumors or pheochromocytoma…I am so scared not being able to function, grieving privately years of the abuse I’ve struggled to stop, not able to find solid supportive friends with so many who only want to blame. No one does this on purpose. They are hurt people reacting from their own wounds. No one wants to adopt a family like us and risk the wrath of the people who still lash out through a third party. I cannot control them, only me. But this nightmare cannot last…I just want to live long enough to help my children!

    • Hey Marie,
      It looks like you posted the same comment on the GI page and I answered you there. I don’t know how helpful my comment will be but I tried!

      Beth

  4. 86Marie said:

    Beth,
    bless you for taking your time to answer my complicated question. I have such faith in people walking this path with their child. I know the many specialists at Cincinnati have done their best for our daughter, the fact of taking two years to diagnose this did not upset me as much as the last two years KNOWING what she has only to then tell her its “not a migraine” when prior specialist told us it was? I do not care what her diagnosis is, I am not looking for a pill to fix her either as the pediatrician today tried to ask. I do not like to put negative out there but trying to be factual.

    I took her to the Pediatrician to rule out the flu, to see what we can do. Seeing her doubled over day after day, struggling to breathe through pain as if we are trying to birth a baby that never comes. We were there over an hour, the Dr did listen! But she did not hear me ask her to look at my daughter with her own eyes, not to keep going back to the Pain clinic notes saying she has to be sent to the Cleveland Clinic. I asked why this is not an abdominal migraine, or what she thought it was, but she said again, she wanted to hear from the Pain dr. She left to call the clinic, returned later saying she left a message and would call, but I have not heard a thing. We feel hopeless, we have no direction or to know when someone will even respond, as we’ve struggled with for so long. I know this is a complicated disorder, she does have EDS and saw the awesome team at Cinci Childrens. I am not sure why she is not part of the actual EDS clinic but just the Pain clinic. I was told that the pain clinic does what the Neuro and Genetics tells them to do but they take her down one path only to send us in the other direction.

    The longer her pain is so out of control, the harder it will be to break it. The higher her pain, the less effective her bio feedback seems to be for her. Its much harder to keep her focused. It must be hard for her to keep pushing, to keep going to PT, to therapy, to stretch, meditate etc but have the Dr’s tell her is not what they once thought and are not telling us other options that will start now but months later that we can hardly think to do for her even then. I have not heard much good about the pain program in Cleveland and the stress of going away with her past trauma is risky. The Dr kept pressing me why that was not a good option. How do I convince someone who seems to not understand adoption trauma as real if we got her at the age of 6 months. If the many traumas she has coped so well with could be reopened by taking her away from her parents? We were not allowed to stay with her in the hospital when she did the over night two week stay but all other kids of her age at the same hospital HAd a parent. I do not want to open old wounds which can add to her coping. She has done great in coping with so much in her short life. But I flat asked HOW do we help her now?

    Even if we are sending her up there, what about the weeks until she gets there? I have to still have scans to locate the tumors and hopefully they can be removed but it can be fatal if not done properly. Stress aggrevates these tumors too. I might have to have chemo and radiaton after surgery too. Right now I am not strong enough to even take her which does not seem to be heard. I asked about community resources, I know old people can get help. Our therapist knows how hard we push to be such a weak family with so much falling around us. But she has never seen parents just walk away when the strong daughter decided to do something SHE wanted to do and not be proud. My daughter and I both have RAD she said.

    I plan to call genetics, again. I emailed Dr Neilson and his asst said to take it up with the Pain team. I just wanted to know the recipe they use, what protocol.

    I’m talking in circles. Its hurts me to see my child suffer, to know so many have given up on her, walked away, not given back what we did for other families for years. If my extended family wants to keep blaming me for the actions of my siblings, to not see how excluding my children has harmed them and hurt us, how I am not mental but trying to set boundaries. The police therapist asked my husband why he did not divorce me. It felt like if I were gone life would work out for him and the kids. There would be no one to attack! But I love them more than my own life. To walk away from my husband and children to save them has crossed my mind. I can’t do it but at times feel I am failing them. Growing up fighting a dysfunctional family is toxic especially when no one has your back.

    thank you for the link for family support! You are a dear blessing.

    Our oldest called today saying he met the man who nearly died driving his race car. Our son will be the one to work directly with him and teach him how to drive the pace car inspite of being a quadriplegic. Our son said the man told him how grateful for now he will just be a driver! Our son said to us, he understands how many many people do not appreciate the life choices we made as his parents, to parent as we did and add to our family but he said he is ever grateful for we guided his path to this moment of knowing he did make life better for someone, and how this will touch the lives of many more. He feels he has done great things and because of the love, support and direction of his crazy parents who think outside the box. It was powerful. He told his sister in pain how he is in awe of her coping skills, to keep smiling at him when he visits, how she continues to do her best and when he is tired, he thinks of her difficult life yet she does not complain, so he knows we all must be so proud of her too, just like he is.

    I wish my child had outside support for building up her self esteem can lift a person out of so much.
    thank you so kindly,
    Marie

    • andrea julian said:

      Marie. Have you done any investigating on her GI issues yourself? Unfortunately we have to figure out a lot of this on our own. But then you can call Jodi at dr Nielsons office and ask for the proper referral. If you know the symptoms are eds related she will usually get one out within days. I’m thinking gastroperisis maybe. If the stomach pain started with an injury she may have herniated or prolapsed something. My son’s spleen ruptured because his then 5 year old brother kicked him in the side?!!! Get on inspires EDS sight and do a search for similar symptoms. You would be surprised how many of her weird symptoms aren’t so weird in the EDS world. Hope this finds you well

      • You are so right, Andrea, we are on our own to figure it out.

        Thanks so much for commenting – I hope Marie is able to come back and see your answer! I answered her on the other link, but I really appreciate others chiming in as well! We have to help each other along this journey!

  5. Pam Hinton said:

    Hey My name is Pam and my son has EDS Type IV. I need some suggestions on EDS specialist.

    • I am sorry it has taken me so long to reply. My computer died and it has been hard keeping up with comments here. EDS specialists that I know of are: Dr. Tinkle in Chicago, Dr. Francomano and Dr. Levy in Baltimore, Dr. Neilson and Dr. Schorrey at Cincinnati Children’s. I would suggest that you get on the EDNF message board (https://www.inspire.com/groups/ehlers-danlos-national-foundation/), sign up and ask for suggestions. There will be others who have Vascular EDS and people from your area, so you should get some helpful information. Good luck

  6. I just got diagnosed with hypermobility mobility Eds and I’m worried I have vascular type is it normal to have veins showing on my chest and stomach my skin I s translucent ???

    • Joey,
      I think it is absolutely normal to have veins showing on your chest and stomach. Skin can be translucent in HEDS to some degree – lesser than in the vascular type, though, but still enough to make one nervous. VEDS is a scary thought but if your doctor feels confident that your diagnosis is correct, you probably can relax and focus on the things that will improve your life. If you are really worried about it, have a conversation with your doctor about why he thinks your diagnosis is correct just to set your mind at ease. Hang in there! 🙂

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