Tuesday, May 4, 2010


I guess when I walked into the office today it was with the expectations that something would be different; that maybe a light bulb would come on and he would say "aha" and we would start testing and things would move on. I don't know why I was hoping or that. It's never that way in the medical field. I'm not complaining. He was a nice doctor. He was very knowledgable. I am happy they will continue testing when the medicare kicks in. I guess I was just expecting a light bulb to come on and it would out shine all the other ideas and it would be "lets get moving and get your life back". What I got was "The kids definitly have something with the joints going on that seems familial, there is definitly something with the headaches going on that seems familial. I think some things that I thought were important didnt seem so important and maybe that frustrated me. I don't know. But, we are still in the same place as before the appt. More testing on the muscle biopsy that was collected, more blood work when I get in the medicare. I guess in my desparation I was just hoping God would lay it in my lap and say "here it is".

I feel like there were so many things that I was not able to tell him. Ringing ears, nausea, dizziness, important stuff. I am praying he wasn't fixated on the joint stuff. It seems somewhat that way.

He wants the physical therapy and speech therapy (for swallowing difficulty) started back up and then we will do more testing when the medicare kicks in. Well, whatever, One day at a time, one step at a time, I just hate feeling stalled.


  1. Hi Trish I understand this. I am probably wrong but it always seems to me that the initial diagosis was right and its Ehlers Danlos all along. I hope I am wrong for your sake as something about your writings seems to say to me that you don't want it to be 'just' all down to EDS. But as an EDEser myself so many many of the myriad of symptoms which doctors don't necessarily equate with the syndrome are in fact absolutely to do with it. I don't know what would be better for you if it were mitochondiral disease or good old EDS. The swallowing difficulties really are so symptomatic and speech therapy decisions so symptomatic of EDS. I know you say mitochondrial disease is the clever masquerader but so many of your symptoms and albeit some benign as yet in the children really do seem to me to be indicative of EDS I hope that in your families case the mitochondrial disease is in fact in the future going to be a time when diagnosis went off course.

    For the children if the main symptomatic feature seemed to be to the geneticist of joint stuff then I would concentrate on getting that treated by way of physical therapy etc along with the speech,swallowing stuff. For you and if necessary for them.

    At the end of the day, living as well as is possible is the prime objective and searching for diagnosis beyond EDS may be a fruitless task. Much of the symptoms of EDS are little understood apart from the very specialised consultant and ordinarily each different aspect needs to be helped by a different speciality in the long run anyhow. I wonder sometimes if your quest is for a cure and I hate to type this but if it is EDS at the present time there is no cure I am afraid. No stem stell treatment, nothing but there is management.

    So many of the symptoms listed in the sidebar on the left are so indicative of EDS that label does indeed seem to fit. I appreciate that you think its not that and that possibly a more specific genetic disorder may be at fault here.

    The headaches at the present time with all the stress that is going on are to be expected. They could be down to chiari - although that seems to be a connection that is made more in the US than here despite Professor Grahame the world specialist in the syndrome talking at the EDS foundation yearly conference this year.

    I hope you find more answers over time especially when the funding kicks in but please don't be surprised if the end is EDS - so many factors seem to be to that end.

    I appreciate that this is a comment you may not like reading but I would not be being true to myself if I had not written it.

    If the specialist saw today joint stuff as a significant part of the general picture then it may be that you may have to come to terms with EDS as the diagnosis. It would not be the end of the world.

    In the long run much time spent looking for answers that may not be there may be time better spent learning to live with EDS?

    I hope I haven't made you cross and I understand your frustration but so many many of your symptoms are so symptomatic and the kids of pretty severe EDS I would hate that you looked back over time and looked at months if not years looking for an alternative diagnosis that was just chasing rainbows.

    Obviously if you post in three months time and say you idiot you couldn't have been more wrong I will eat my hat.

    18 out of the 19 diagnosis/symptoms listed in the sidebar are symptomatic of ehlers danlos. Some have three or four, some less some more.

    I would like to read that you are getting treatment (not necessarily a cure) for a lot of your symptoms enabling you to move forward. Learning to live well with a chronic condition.

    Had to write it Steph. xoxoxoxo

  2. Haha. Eat your hat. That must be a UK thing? Cute. I was all ready to accept EDS. All ready to see Dr. Francomano and go to the EDS conference and get on with my life, therapies and all, even to the point of teaching my Nikki all about it so that she could understand why she feels like she does sometimes. If it turns out to be solely EDS and therapy does the trick I won't be "sad" or such. I have just heard so very many differing opinions that it is driving me crazy. Geneticist says we are not loose enough for EDS to cause this many problems, the metabolic says "joint problems" and won't even call it anything. No one will MAKE A DECISION!!!!! They are all to afraid to call it one thing or another because there isn't enough evidence or because it's controversial. At this point I don't care what they call it as long as it is named and they all agree..... I wish we could afford for me to take all of the kids and myself to Baltimore so we could see Dr. Francomano. If she said "no" or "yes" I would have no problem accepting it. More than anything I just want a physician to look me in the face and say "I know exactly how you feel and I understand exactly what you are describing." I don't know what to think anymore, or who to rely on. If I accept that I have a "chronic condition" then I am accepting that I need help, and well, frankly, there is no one to help me. We are far from figuring out what we are doing at this point. I feel like I am dangling from a rope, just waiting for that really bad thing to happen that feeds me to the sharks. I thought it was the seizures when they started. Turns out it's not... Haha. Sorry. Didn't mean to vent on you. I am so very tired.

  3. Hi Trish

    Totally get your response by the way. I was diagnosed nearly twenty years ago by Professor Grahame with EDS hypermobility type. Try telling that to other specialists! Some get it some don't. I have many overlap symptoms to vascular type - but too scared to ask about that. Its got a name by the way the overlap stuff on the syndrome but too tired to remember it. I think it begins with an M but maybe not...

    The very very loose jointed and loose skin often depicted in the 'press' or on youtube is not actually the reality of the majority of those who suffer daily with chronic pain and dislocations. Its the type whose name I can't remember which doesn't hurt too much. Come on fellow bloggers help me out her. The rest - is under documented - under researched. It makes me wonder if the geneticist had just looked it up in his big enormous medical book and looked at some irrelevant pictures! There is small research out there which links epilepsy with EDS. Autonomic dysfunction and the rest......

    Put them all together in a package that is understood by anyone other than a very specialist specialist and the medical profession goes all wobbly themselves.

    I cannot get anyone including the very specialist specialist at the present time to agree that impaired immunity is anything whatsoever to do with EDS and my guess is you, me and anyone out there with the more unusual of symptoms experienced nods empathetically. Not because of the impaired immunity aspect of things but the general lack of acceptance that 'this' condition is more than it seems in documentation in medical journals.

    My guess is that eventually your hypothesis will be right and it will be recognised under the umbrella of mitrochondrial stuff.

    What isn't fair is that none of us have adequate access to appropriate specialists to help us while the rest of them bicker together with the symantics.

    I know it doesn't help but I do understand.

    Yes it must be a UK thing eating one's hat - equivalant to admitting one is wrong!

    I'm tired too.

    My guess is that anyone with EDS reading this is also tired!

    I am a bit fed up that your seizure's are not controlled. Husband and son with epilepsy in this house would agree. Are they associated with your menstrual cycle in any way? A boring and obvious question I know, especially to a nurse... Am running away and hiding now in a very virtual way as running is so not me!

    hang on in there Trish. Honestly that really bad thing is not going to happen.


    ps - I have a blog post in mind now dedicated to eating one's hat!

  4. I think eating your hat would be better than our version of "sticking your foot in your mouth..." hahaha. My grandmother says "open mouth, insert foot". I do appreciate your wisdom and the sharing of your long hard journey with me. I know things are more than what they seem. I can totally picture my physicians bickering amongst themselves like you described. I just hope I don't wither away while waiting for them. I have spent the last year not even waiting for them anymore, just going for the goal myself, and it has proved exhausting. SOmetimes, against my every instinct, I just want to let the doctors be the doctors and tell me how to get better and let me be the patient instead of the nurse who really should've been the doctor... Oh well. I love genetics. It fascinates me! When I finish my Nurse Practitioner I am so going to work with genetics and the more rare disabilities because I am there, in that place that every person with EDS or mito or even CP knows about. That place where you don't know how to help yourself and no doctor can agree.... I want to be that one that everyone says "I need to see her because she knows what to do!" Hahaha. Big dreams I guess.

  5. Hi Trish.
    I stumbled onto your blog doing some research myself. I too am a nurse. And like you, I've had odd disabling symptoms take over my once very productive and active life. I've had more diagnoses and symptoms than I can count. I've had more invasive and non-invasive procedures and surgeries than I needed. Some of them so inappropriate that I have had to obtain the services of several attorneys. Never thought I'd have to do that as a nurse. Would much rather be working than home struggling to get thru each day. Praying that I will get a clear analysis of what is wrong with me and how to increase the quality of life I have and reduce the symptoms and pain that I do have. But it has been 6 years since I was able to work and 6 years of misdiagnoses, surgeries, and recoveries. I have spent hours reading research papers by researchers in numerous fields of expertise and then have to take a break because I overwhelm myself. Heaven forbid that I should actually tell a doctor what I read. When I get to that point, I try to just accept that I just wasn't made right in the first place.

    Thank you for your blog!