Guest guest Posted April 3, 2004 Report Share Posted April 3, 2004 Dear , Glad to hear you are going to one - they should help clear up your dx and answer some questions for you. Mostly what you will need is your medical history. You will want all history on your immediate family and preferrably at least one generation back (your grandparents and anything you may have on their siblings). This along with your own medical history. They will make a family tree type chart which will help them find any family connections to your current condition. Don't be surprised though if they can not find one. Sometimes symptoms are too mild in other family that they can not get a definitive link (happened in my case so call myself a " spontaneous mutant " :-))) ). Other than that you just need to bring yourself. Along with the info gathering they will do a physical exam, testing your mobility and looking for any other traits like high palates, skin stretchiness, cysts, etc. etc. If they thin you may have EDS they will set up the following - Heart exam including ultrasound (checking for MVP and the size of aorta) Back x-ray (looking for scoliosis) Eye exam (looking for connective tissue problems in eye) Return visit for skin biopsy (to check for Vascular type - as that is the only on they can definitively test for and if you have that type it is handled differently due to it's possible decrease in lifespan). That's about it. Could be a very long visit. The Geneticists unfortuantely can not help you with specific problems you are having but may be able to refer you to docs who know about EDS. They are also quite good to have on hand if you apply for disability. You really don;t need to see them on a consistent basis but if they are doing any studies they may want to touch base with you once a year to keep track of your condition. Good Luck! Hugs, B. HEDS, New Jersey, USA Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 3, 2004 Report Share Posted April 3, 2004 , You will enjoy the visit to the geneticist, it will be long, thorough and interesting. Bring all histories of family members who have symptoms similar to yours and detailed histories of members of the family who have other issues on their plates as well. It's all relevant in the eyes of a geneticist and they will get to the bottom of your EDS mystery. Jill Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 3, 2004 Report Share Posted April 3, 2004 , You will enjoy the visit to the geneticist, it will be long, thorough and interesting. Bring all histories of family members who have symptoms similar to yours and detailed histories of members of the family who have other issues on their plates as well. It's all relevant in the eyes of a geneticist and they will get to the bottom of your EDS mystery. Jill Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 4, 2004 Report Share Posted April 4, 2004 Two people so far (sorry, I can't remember who) have said to bring medical histories on at least my immediate family members. My family is not being particularly helpful in giving my any sort of histories or looking for symptoms in themselves. I'm hoping that they will be more willing when I say it is needed for the genetics appointment, but if they still aren't willing, will that be a huge problem?? Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 4, 2004 Report Share Posted April 4, 2004 Two people so far (sorry, I can't remember who) have said to bring medical histories on at least my immediate family members. My family is not being particularly helpful in giving my any sort of histories or looking for symptoms in themselves. I'm hoping that they will be more willing when I say it is needed for the genetics appointment, but if they still aren't willing, will that be a huge problem?? Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 4, 2004 Report Share Posted April 4, 2004 Two people so far (sorry, I can't remember who) have said to bring medical histories on at least my immediate family members. My family is not being particularly helpful in giving my any sort of histories or looking for symptoms in themselves. I'm hoping that they will be more willing when I say it is needed for the genetics appointment, but if they still aren't willing, will that be a huge problem?? Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 4, 2004 Report Share Posted April 4, 2004 , just write you know about each person. Miscarriages, arthritis, eyes, ears, bruising, bleeding, skin, heart, what ever you know. That will have to do if that is all you know. Your own health history and exam will stand on it's own. Not every one can have family history. Do write everything about your self. When we when, the Dr went over the family history, the chart history and did a physical exam, clothes on. Then the Dr ordered tests like echocardiogram, and visits to other Drs, like the eye Dr. We went back 6 weeks later for the final DX. She did say at the first visit, she felt it was EDS 3, but just wanted to be sure. Hope this helps. Cindylouwho Re: Geneticist Appointment Two people so far (sorry, I can't remember who) have said to bring medical histories on at least my immediate family members. My family is not being particularly helpful in giving my any sort of histories or looking for symptoms in themselves. I'm hoping that they will be more willing when I say it is needed for the genetics appointment, but if they still aren't willing, will that be a huge problem?? To learn more about EDS, visit our website: http://members.rogers.com/ceda2/ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 4, 2004 Report Share Posted April 4, 2004 , just write you know about each person. Miscarriages, arthritis, eyes, ears, bruising, bleeding, skin, heart, what ever you know. That will have to do if that is all you know. Your own health history and exam will stand on it's own. Not every one can have family history. Do write everything about your self. When we when, the Dr went over the family history, the chart history and did a physical exam, clothes on. Then the Dr ordered tests like echocardiogram, and visits to other Drs, like the eye Dr. We went back 6 weeks later for the final DX. She did say at the first visit, she felt it was EDS 3, but just wanted to be sure. Hope this helps. Cindylouwho Re: Geneticist Appointment Two people so far (sorry, I can't remember who) have said to bring medical histories on at least my immediate family members. My family is not being particularly helpful in giving my any sort of histories or looking for symptoms in themselves. I'm hoping that they will be more willing when I say it is needed for the genetics appointment, but if they still aren't willing, will that be a huge problem?? To learn more about EDS, visit our website: http://members.rogers.com/ceda2/ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 4, 2004 Report Share Posted April 4, 2004 , just write you know about each person. Miscarriages, arthritis, eyes, ears, bruising, bleeding, skin, heart, what ever you know. That will have to do if that is all you know. Your own health history and exam will stand on it's own. Not every one can have family history. Do write everything about your self. When we when, the Dr went over the family history, the chart history and did a physical exam, clothes on. Then the Dr ordered tests like echocardiogram, and visits to other Drs, like the eye Dr. We went back 6 weeks later for the final DX. She did say at the first visit, she felt it was EDS 3, but just wanted to be sure. Hope this helps. Cindylouwho Re: Geneticist Appointment Two people so far (sorry, I can't remember who) have said to bring medical histories on at least my immediate family members. My family is not being particularly helpful in giving my any sort of histories or looking for symptoms in themselves. I'm hoping that they will be more willing when I say it is needed for the genetics appointment, but if they still aren't willing, will that be a huge problem?? To learn more about EDS, visit our website: http://members.rogers.com/ceda2/ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 4, 2004 Report Share Posted April 4, 2004 Yes, this does help. Thanks a bunch! > , just write you know about each person. Miscarriages, arthritis, eyes, ears, bruising, bleeding, skin, heart, what ever you know. That will have to do if that is all you know. Your own health history and exam will stand on it's own. Not every one can have family history. Do write everything about your self. When we when, the Dr went over the family history, the chart history and did a physical exam, clothes on. Then the Dr ordered tests like echocardiogram, and visits to other Drs, like the eye Dr. We went back 6 weeks later for the final DX. She did say at the first visit, she felt it was EDS 3, but just wanted to be sure. Hope this helps. Cindylouwho > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 4, 2004 Report Share Posted April 4, 2004 Re: Geneticist Appointment Two people so far (sorry, I can't remember who) have said to bring medical histories on at least my immediate family members. My family is not being particularly helpful in giving my any sort of histories or looking for symptoms in themselves. I'm hoping that they will be more willing when I say it is needed for the genetics appointment, but if they still aren't willing, will that be a huge problem?? ~~~~~~~~~ No.... it shouldn't Did they geneticst's office send you papers to fill out???? When I filled ours out, it had lots of questions to help jog your memory.... Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 4, 2004 Report Share Posted April 4, 2004 Re: Geneticist Appointment Two people so far (sorry, I can't remember who) have said to bring medical histories on at least my immediate family members. My family is not being particularly helpful in giving my any sort of histories or looking for symptoms in themselves. I'm hoping that they will be more willing when I say it is needed for the genetics appointment, but if they still aren't willing, will that be a huge problem?? ~~~~~~~~~ No.... it shouldn't Did they geneticst's office send you papers to fill out???? When I filled ours out, it had lots of questions to help jog your memory.... Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 4, 2004 Report Share Posted April 4, 2004 Re: Geneticist Appointment Two people so far (sorry, I can't remember who) have said to bring medical histories on at least my immediate family members. My family is not being particularly helpful in giving my any sort of histories or looking for symptoms in themselves. I'm hoping that they will be more willing when I say it is needed for the genetics appointment, but if they still aren't willing, will that be a huge problem?? ~~~~~~~~~ No.... it shouldn't Did they geneticst's office send you papers to fill out???? When I filled ours out, it had lots of questions to help jog your memory.... Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 5, 2004 Report Share Posted April 5, 2004 Not yet, I'm still waiting for the final authorization. I need to go out of network insurance-wise, so it is taking a while. I'm guessing that once I get an appointment they'll send the paperwork out. > > Did they geneticst's office send you papers to fill out???? > > When I filled ours out, it had lots of questions to help jog your memory.... > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 5, 2004 Report Share Posted April 5, 2004 Not yet, I'm still waiting for the final authorization. I need to go out of network insurance-wise, so it is taking a while. I'm guessing that once I get an appointment they'll send the paperwork out. > > Did they geneticst's office send you papers to fill out???? > > When I filled ours out, it had lots of questions to help jog your memory.... > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 5, 2004 Report Share Posted April 5, 2004 Not yet, I'm still waiting for the final authorization. I need to go out of network insurance-wise, so it is taking a while. I'm guessing that once I get an appointment they'll send the paperwork out. > > Did they geneticst's office send you papers to fill out???? > > When I filled ours out, it had lots of questions to help jog your memory.... > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 5, 2004 Report Share Posted April 5, 2004 Hi , I did not have any such thing with me when I was at the Genetecist and got diagnosed. What I did though, was to tell him about the things I knew about family members which I thought he would be interested in. E.g. family members you know about who were/are very limber, have had several dislocations, frequent injuries, bruise easily etc. etc. Everything you can think of that you think may be of importance. You can even prepare a list of such things before you go. It is odd how this can be so difficult for some. I have had problems with my dad, he got so angry with me when I suggested that the EDS may come from him. This was in 1997, and he has not mentioned my EDS even once since then... So he does not know anything about it, probably doesn't even remember what it is called... My sister who I am sure has it too, doesn't want to pursue a diagnosis. She is very understanding towards me and my problems though. People are funny sometimes, that is just how it is... If they don't want to help you, I don't think that is a much of a problem at all. But if you can get it, of course it will be an advantage for the Genetecist... The most important thing for the Genetecist though is your medical history and the clinical examination of you... The medical history of other family members can be of help e.g. in determining if it has been in your family for how long, or if you are a mutation so that you are the first one... I think it is a good idea to try to explain to them why it is important for the doctor (not you) to get this, and also make it clear that if there is something in their medical history which they would prefer you not knowing about, they don't have to include it. If they would feel more confident about giving it to you without you reading it, you could ask them to write it down, put it in a sealed envelope so you can bring it directly to the Genetecist to read... Good luck with your appointment!!! Aase Marit >Two people so far (sorry, I can't remember who) have said to bring >medical histories on at least my immediate family members. My family >is not being particularly helpful in giving my any sort of histories >or looking for symptoms in themselves. I'm hoping that they will be >more willing when I say it is needed for the genetics appointment, >but if they still aren't willing, will that be a huge problem?? Quote Link to comment Share on other sites More sharing options...
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