Guest guest Posted May 6, 2004 Report Share Posted May 6, 2004 Yes, we discussed that the hypermobility comes from my dad and the vascular aspects run on my mom's side, but we didn't link the two together when he said VEDS doesn't show hypermobility. I made the connection that I could potentially have both types just this morning. He asked me to try and get more info on my mom's colon surgery, so when I let the office know if I was able to get that info, I'll mention the possibility at that time. I also just learned that my maternal grandfather (the one who had the aortic aneurysm) almost died of a ruptured appendix as a teenager, so that might be beneficial for the geneticist to know also. I'm wondering if the other person you know who got EDS from both parents inhereited 2 different types, and did the parents know they had EDS before their child was diagnosed? Thanks. > Hi , > > Did you tell the MD about the possibility of EDS coming from two sides of > the family? It is not entirely impossible. If I had children, that would > be the case. I know of at least one other person who did get EDS from both > parents. > > -Barb Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 6, 2004 Report Share Posted May 6, 2004 Yes, we discussed that the hypermobility comes from my dad and the vascular aspects run on my mom's side, but we didn't link the two together when he said VEDS doesn't show hypermobility. I made the connection that I could potentially have both types just this morning. He asked me to try and get more info on my mom's colon surgery, so when I let the office know if I was able to get that info, I'll mention the possibility at that time. I also just learned that my maternal grandfather (the one who had the aortic aneurysm) almost died of a ruptured appendix as a teenager, so that might be beneficial for the geneticist to know also. I'm wondering if the other person you know who got EDS from both parents inhereited 2 different types, and did the parents know they had EDS before their child was diagnosed? Thanks. > Hi , > > Did you tell the MD about the possibility of EDS coming from two sides of > the family? It is not entirely impossible. If I had children, that would > be the case. I know of at least one other person who did get EDS from both > parents. > > -Barb Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 6, 2004 Report Share Posted May 6, 2004 > I'm wondering if the other person you know who got EDS from both > parents inhereited 2 different types, and did the parents know they > had EDS before their child was diagnosed? Thanks. Actually, I can think of three cases where this has happened. I don't remember the details though, just that it occurred. -Barb Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 6, 2004 Report Share Posted May 6, 2004 > I'm wondering if the other person you know who got EDS from both > parents inhereited 2 different types, and did the parents know they > had EDS before their child was diagnosed? Thanks. Actually, I can think of three cases where this has happened. I don't remember the details though, just that it occurred. -Barb Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 6, 2004 Report Share Posted May 6, 2004 > I'm wondering if the other person you know who got EDS from both > parents inhereited 2 different types, and did the parents know they > had EDS before their child was diagnosed? Thanks. Actually, I can think of three cases where this has happened. I don't remember the details though, just that it occurred. -Barb Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 7, 2004 Report Share Posted May 7, 2004 Dear , From what I understand from the Geneticists I've seen as well as from others on this list who have seen Geneticists, once a dx of EDS is made it is followed up by a skin biopsy to verify that VEDS is not in the picture - since VEDS is the only life threatening version. Hugs, B. HEDS, New Jersey, USA Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 7, 2004 Report Share Posted May 7, 2004 Hi , That was sort of the impression I was under, but when I asked about the vascular form, his reply way that there were two tests... I could get an echo done to look at the size of my aorta, and if that showed something then " perhaps " I could have a skin test. But, he said, they don't ususally recommend the skin test because there is only one lab that does the testing (or something like that). I'm not sure what that has to do with anything, but I guess he felt confident that I don't have the vascular type, because he isn't even really recommending the echo be done. I'm not really sure whether to try and pursue the echo and/or skin test. I'm about due for my check-up with my cardiologist, so I'll probably mention the diagnosis to him and see if he wants to request an echo. > Dear , > > From what I understand from the Geneticists I've seen as well as from others on this list who have seen Geneticists, once a dx of EDS is made it is followed up by a skin biopsy to verify that VEDS is not in the picture - since VEDS is the only life threatening version. > > Hugs, > B. > HEDS, New Jersey, USA > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 7, 2004 Report Share Posted May 7, 2004 But, he said, > they don't ususally recommend the skin test because there is only one > lab that does the testing (or something like that). Hi , There is only one lab that does the final testing. There are some universities/geneticists that can take the skin plug and grow the tissue, if they know the proper procedure of growing it, but the final diagnosis and examination of the skin plug comes from the lab in Seattle. Hope this helps. Love Lana Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 8, 2004 Report Share Posted May 8, 2004 Dear , If I were in your position I would go to a second Geneticist, if just for another opinion. This is a confusing condition and each Geneticist seems to have their own ideas on what symptoms, and severity or lack thereof of each, makes up each type. With you personally questioning the vascular aspect, and with others advising that the skin biopsy test is normal procedure, it may be a good idea to seek out another Genticists opinion. If possible try and go to a major hospital as they are usually more up to date - though they can have morons posing as docs as well :-) Hugs, B. HEDS, New Jersey, USA Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 8, 2004 Report Share Posted May 8, 2004 Dear , If I were in your position I would go to a second Geneticist, if just for another opinion. This is a confusing condition and each Geneticist seems to have their own ideas on what symptoms, and severity or lack thereof of each, makes up each type. With you personally questioning the vascular aspect, and with others advising that the skin biopsy test is normal procedure, it may be a good idea to seek out another Genticists opinion. If possible try and go to a major hospital as they are usually more up to date - though they can have morons posing as docs as well :-) Hugs, B. HEDS, New Jersey, USA Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 8, 2004 Report Share Posted May 8, 2004 Dear , If I were in your position I would go to a second Geneticist, if just for another opinion. This is a confusing condition and each Geneticist seems to have their own ideas on what symptoms, and severity or lack thereof of each, makes up each type. With you personally questioning the vascular aspect, and with others advising that the skin biopsy test is normal procedure, it may be a good idea to seek out another Genticists opinion. If possible try and go to a major hospital as they are usually more up to date - though they can have morons posing as docs as well :-) Hugs, B. HEDS, New Jersey, USA Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 9, 2004 Report Share Posted May 9, 2004 I guess I shouldn't say " congratulations " . But, doesn't it feel a bit better to have something to blame it all on? I can do all those tounge tricks, but not touch it to my nose. My sister can do that though. Also, making a sort of circle shape. Like touching the sides together. Wierd stuff. Hugs, Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 9, 2004 Report Share Posted May 9, 2004 I guess I shouldn't say " congratulations " . But, doesn't it feel a bit better to have something to blame it all on? I can do all those tounge tricks, but not touch it to my nose. My sister can do that though. Also, making a sort of circle shape. Like touching the sides together. Wierd stuff. Hugs, Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 10, 2004 Report Share Posted May 10, 2004 Hi , Congrats on your diagnosis!!! One day in Oct 1997, I had taken my laptop with me to Oslo to be able to let this group know how much genetecist appt. at the national hospital went, and I felt so funny when I finally could log on and post about being diagnosed... What a relief to know for sure what is going on with your body... I was recommended not to go for a skin biopsy, because there was no signs towards me having the vascular type, he was sure I was the hypermobile type. Then he did not see any point in doing it. But as far as everything I have read and heard goes, the Echocardiogram is recommended for all of us, regardless of type. Because all types can have Mitral Valve Prolapse (I have it too) and it should be detected and monitored. Also the aorta root should be checked to see that it is normal, because if it is extended, it should be followed more closely to see that it does not extend too much. People with VEDS does get this more often than people with other types, but it can happen with others too, there are overlapping symptoms between types. The recommandations I have heard, is once yearly for people with VEDS, every 3-5 years for people with other types (varies a bit, some say 3 yrs, some 5 yrs.) I really do not feel that there is any reason whatsoever to pursue getting a skin biopsy done for my own sake. There are certain signs and symptoms of VEDS that is so different than the typical HEDS symptoms, so I know for sure in my heart that I don't have VEDS. So what is the point then? But, that is only what _I feel_ for _myself_. You of course have to figure out for yourself what seems to be the best options for you. But if you feel you have overlapping symptoms which can be indicative of VEDS, maybe pursuing getting a skin biopsy done is an idea for you... It seems logical though that your genetecist most likely would have ordered skin biopsy if he felt there was any doubt as to which type you are... Anyway... You have to do what you feel is right _for you_. If you have doubts, maybe posting about them and why you feel like that, may be a good idea, you could get some input from others on these things. Did you read the whole nosology? If you didn't, I would read the nosology part about VEDS, if I were you, which lists the symptoms and diagnostic criteria. That can be a good guidance for you. Again congrats!!! Take care!!! Aase Marit >Hi , >That was sort of the impression I was under, but when I asked about >the vascular form, his reply way that there were two tests... I could >get an echo done to look at the size of my aorta, and if that showed >something then " perhaps " I could have a skin test. But, he said, >they don't ususally recommend the skin test because there is only one >lab that does the testing (or something like that). I'm not sure >what that has to do with anything, but I guess he felt confident that >I don't have the vascular type, because he isn't even really >recommending the echo be done. I'm not really sure whether to try >and pursue the echo and/or skin test. I'm about due for my check-up >with my cardiologist, so I'll probably mention the diagnosis to him >and see if he wants to request an echo. > > > > > >> Dear , >> >> From what I understand from the Geneticists I've seen as well >as from others on this list who have seen Geneticists, once a dx of >EDS is made it is followed up by a skin biopsy to verify that VEDS is >not in the picture - since VEDS is the only life threatening version. >> >> Hugs, >> B. >> HEDS, New Jersey, USA >> >> Quote Link to comment Share on other sites More sharing options...
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