Guest guest Posted January 6, 2002 Report Share Posted January 6, 2002 , with regards to what was on that link with respect to prognosis, there is absoulutely no difference between the newly found metabolic diseases, mitochondrial diseases or any other zebra disease. At the very early " pre-historic " stage of the disease, people can only go by the rare descriptions. Unfortunately, the way the message gets delivered or is perceived to be delivered to newly dx'ed patients is that the " pre-history " is gospel and this is what's going to happen to " your child " too. No doctor can ever predict what is going to happen with any one patient with regards to ultimate outcomes. Rhys was dx'ed 7 yrs afer mito was first described, and if you were to speak to all of us old-timers, those of us with innfants were told our kids were going to die within a year. for many of us that hasn't happened yet. So, although the description of MADD sounds like doom and gloom, don't take it to heart. As for your ITP, it's not that you have inadequate number of platelys, in fact your marrow is in an over production mode to compensate for your body's immune system which is attacking your platelets. By the time I finished my heme/onc fellowship, the I no longer stood for Idiopathic (meaning we don't understand the process) to Immune (and auto-immune response). This would seem to make sense given your thyroid issues too. What happerns with ITP is your platelets are coated with IgG antibodies. The platelets would still function even though they are coated. But, your liver and particularly your spleen work to remove antigen-antibody (platelets covered by IgG) complexes. That's the basis for high-dose IV IgG therapy in ITP. The premise was to coat or fill all the " holes " in the system so that there were no places to hold more antigen-antibody pieces. therefore, the platelets would remain in the circulation and do their job. Especially in teenage giirls, we would be very suspicious of an evolving lupus-like condition developing as " historically " ITP was a forewarning of more auto-immune problems. btw, didn't mean to upset anything, either. ---------------------------------- Elaine, I think it would be very worthwhile to pursue a mito workup. I know this is hard, and am currently observing how VERY devastating this entire concept is to one of my newest families, too!! As hard as it may seem, if your daughter does ultimately have mito, as hard as it is to come to grips with, now more than ever, keep in mind that not every affected person has the same course!!! Unfortuantely, medical expertise is very hard to find (like I discussed back in 1997 with you) whether you're geographically isolated OR if you are in a densely populated medical community complete with 5 medical schools but none of the doctors know anything about mito. I'd suggest that if there is an interest in studying mito there, that the person contact " regional " experts, be it in Europe or North America, or those who are in Australia for example.There are also some e-mail lists that this doctor could join that address both clinical and research-related topics, too. Hope this helps. ------------------------- Barbara, To begin with, I sent Marius some links for Tom, including the UMDF site and Cohen's article. When I ran in to Tom, he said that he never got my print out that I brough to our last staff meeting. so I'll try again. Offered any assistance should he like to tap into my resources. As for the flu shot, I always recommend the shot to my patients. Though this is controversial (not for me, but the topic definitely is) if one has ill effects from the vaccine, they generally will be very small as compared to the complications from the full-blown disease itself. As for timing, it is more than likely too late. I've already seen about 8 kids with the flu, and it seems as though it may be as bad as the 1990 season. I've been seeing temps in the 103-105 range for about 5-6 days, complete with teh cough/sore throat/vomiting and diarrhea, followed by about another 5 days of coughing as the temp comes down and finally getting to be nearly normal after about 2-2.5 weeks. Speaking with some reps that come to the various offices, it appears that it's finally coming to our area. Should you decide to get the shot anyway, keep in mind that you won't reap the benefits of the shot for about 4-5 weeks from the time you get the shot, and that's about the time this year's season ends. With all due respects to everyone on the list, for very personal reasons, I'd elect San Diego even though NYC is only about 85 miles away from here. -------------------------- Ken _________________________________________________________________ Chat with friends online, try MSN Messenger: http://messenger.msn.com Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 6, 2002 Report Share Posted January 6, 2002 Hi Ken, Thank you so much for this bit of help and info, I will certainly look for a good Dr, maybe at one of the Medical Schools, they could help a bit, or get in touch with the Medical Research Council and get one of these Dr's to get on a Mito Board as you suggested. Thanks very much for your help. I have another mom here in S.A. who's baby girl of 2 is undiagnosed and dying, and no-one is doing a thing about it. she has major Stridor breathing, in desperate need of continual suctioning, and is bombed out all day and night...this poor mom calls me on a daily basis, and all I can do is be there for her, and let her know she has someone who cares. I have told her to get blood taken and send it to a University here in Potchefstroom where they can now do testing for Metabolic disorders, only within the last couple of weeks, or months....so hopefully she can get help there, but Dr's have also given up on her little one. It's so sad.....:-( She lives too far away for me to visit her, she lives almost on a farm like surrounding, miles and miles away from anyone or anything.....I am trying my best to try and get out to her, and give her 's old feeding machine pump. Anyway, thank you so much again.......take care Elaine Ken Hirsch wrote: ----------------------------------Elaine,I think it would be very worthwhile to pursue a mito workup. I know this is hard, and am currently observing how VERY devastating this entire concept is to one of my newest families, too!! As hard as it may seem, if your daughter does ultimately have mito, as hard as it is to come to grips with, now more than ever, keep in mind that not every affected person has the same course!!! Unfortuantely, medical expertise is very hard to find (like I discussed back in 1997 with you) whether you're geographically isolated OR if you are in a densely populated medical community complete with 5 medical schools but none of the doctors know anything about mito. I'd suggest that if there is an interest in studying mito there, that the person contact "regional" experts, be it in Europe or North America, or those who are in Australia for example.There are also some e-mail lists that this doctor could join that address both clinical and research-related topics, too.Hope this helps.---------------------------------------------------Ken_________________________________________________________________Chat with friends online, try MSN Messenger: http://messenger.msn.comPlease contact mito-owner with any problems or questions. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 7, 2002 Report Share Posted January 7, 2002 Hi Ken, thanks for your input. I figured I was kinda late with getting the flu shot, i put off and put it off not to mention james has had problems breathing so i kinda of already set up the fact was not gonna get his flu shot. james really is healthy given all his problems it is so strange, but I have, over all healthy kids. God has blessed me with something. By the way has lost weight, I have to talk to O'Donnell because I think I know why. james requires re-hydralite at least 4 hr's per 24 plus whatever he vomits out and what we vent out, well it is impossible in a 24 hour to give his formula feeds required to maintain his weight plus the rehydralite, but if we don't rehydrate him we see alot of consequences. So we are forced between formula or re-hydraylite and if we pick the latter he starts to lose wieght. So we are forced with a choice. We try to compensate but, well you know. As far as our choice in Doctors, well everything is a gamble. It just gives me some confidence in knowing that maybe for once in my life I made a half decent choice. As you know everything is overwhelming let alone trying to make life decisions. I only hopes this gives us some results if not just some answers. The other day told me he didn't mind if he died because all this would go away. This is not the first statement like this that he has conveyed to me. Talk about scary and heartbreaking. He really is a strong and precious kid but I think he is coming to his breaking point. God we need help!!! Well thanks for staying in touch and helping, hope we can meet soon, As busy as everything is i gotta take time out. Stay healthy and strong. Barbara > >Reply-To: Mito >To: Mito >Subject: , Elane, Barbara >Date: Sun, 06 Jan 2002 07:05:33 -0500 > > >, > >with regards to what was on that link with respect to prognosis, there is >absoulutely no difference between the newly found metabolic diseases, >mitochondrial diseases or any other zebra disease. At the very early > " pre-historic " stage of the disease, people can only go by the rare >descriptions. Unfortunately, the way the message gets delivered or is >perceived to be delivered to newly dx'ed patients is that the " pre-history " >is gospel and this is what's going to happen to " your child " too. No doctor >can ever predict what is going to happen with any one patient with regards >to ultimate outcomes. Rhys was dx'ed 7 yrs afer mito was first described, >and if you were to speak to all of us old-timers, those of us with innfants >were told our kids were going to die within a year. for many of us that >hasn't happened yet. So, although the description of MADD sounds like doom >and gloom, don't take it to heart. > >As for your ITP, it's not that you have inadequate number of platelys, in >fact your marrow is in an over production mode to compensate for your >body's >immune system which is attacking your platelets. By the time I finished my >heme/onc fellowship, the I no longer stood for Idiopathic (meaning we don't >understand the process) to Immune (and auto-immune response). This would >seem to make sense given your thyroid issues too. What happerns with ITP is >your platelets are coated with IgG antibodies. The platelets would still >function even though they are coated. But, your liver and particularly your >spleen work to remove antigen-antibody (platelets covered by IgG) >complexes. That's the basis for high-dose IV IgG therapy in ITP. The >premise >was to coat or fill all the " holes " in the system so that there were no >places to hold more antigen-antibody pieces. therefore, the platelets would >remain in the circulation and do their job. Especially in teenage giirls, >we >would be very suspicious of an evolving lupus-like condition developing as > " historically " ITP was a forewarning of more auto-immune problems. > >btw, didn't mean to upset anything, either. > >---------------------------------- > >Elaine, > >I think it would be very worthwhile to pursue a mito workup. I know this is >hard, and am currently observing how VERY devastating this entire concept >is >to one of my newest families, too!! As hard as it may seem, if your >daughter >does ultimately have mito, as hard as it is to come to grips with, now more >than ever, keep in mind that not every affected person has the same >course!!! Unfortuantely, medical expertise is very hard to find (like I >discussed back in 1997 with you) whether you're geographically isolated OR >if you are in a densely populated medical community complete with 5 medical >schools but none of the doctors know anything about mito. I'd suggest that >if there is an interest in studying mito there, that the person contact > " regional " experts, be it in Europe or North America, or those who are in >Australia for example.There are also some e-mail lists that this doctor >could join that address both clinical and research-related topics, too. > >Hope this helps. > >------------------------- > >Barbara, > >To begin with, I sent Marius some links for Tom, including the UMDF site >and >Cohen's article. When I ran in to Tom, he said that he never got my print >out that I brough to our last staff meeting. so I'll try again. Offered any >assistance should he like to tap into my resources. > >As for the flu shot, I always recommend the shot to my patients. Though >this >is controversial (not for me, but the topic definitely is) if one has ill >effects from the vaccine, they generally will be very small as compared to >the complications from the full-blown disease itself. As for timing, it is >more than likely too late. I've already seen about 8 kids with the flu, and >it seems as though it may be as bad as the 1990 season. I've been seeing >temps in the 103-105 range for about 5-6 days, complete with teh cough/sore >throat/vomiting and diarrhea, followed by about another 5 days of coughing >as the temp comes down and finally getting to be nearly normal after about >2-2.5 weeks. Speaking with some reps that come to the various offices, it >appears that it's finally coming to our area. Should you decide to get the >shot anyway, keep in mind that you won't reap the benefits of the shot for >about 4-5 weeks from the time you get the shot, and that's about the time >this year's season ends. > >With all due respects to everyone on the list, for very personal reasons, >I'd elect San Diego even though NYC is only about 85 miles away from here. > >-------------------------- > >Ken > > >_________________________________________________________________ >Chat with friends online, try MSN Messenger: http://messenger.msn.com > _________________________________________________________________ Chat with friends online, try MSN Messenger: http://messenger.msn.com Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 7, 2002 Report Share Posted January 7, 2002 Hi Barbara, I'm taking a shot in the dark in hopes of possibly (???) having an answer for your rehydralite/formula situation. I don't know what rehydralite is. I'm quessing it might be like pedialyte. Also, I don't know if is on a formula you mix yourself. And, I can't recall your family history to know if has a G-tube. Again, I'm wanting to stress I'm taking a shot in the dark. So, this may sound really stupid or that I've fallen off my rocker. Is there a chance that you can use the rehydralite in his formula (provided you mix it yourself?) In other words, what amount you need to get in for the rehydralite, can you swap out in place of the water that would go in the formula. Of course, if the water amount exceeds the amount of rehydralite then the remaining difference should be made up with the water needed. But, this may be defeating the purpose of the rehydralite. Also, I was hoping, that if the formula will be a strange mixture, that you will have a G-tube that you can give it through since this mixture may taste strange. Hope this doesn't sound REALLY strange. I've had to learn to come up with inventive ways with Cassie to manage all that she needs in her care. But please don't think I put her through weird stuff. One example, is Cassie can't handle a whole can by bolis feed, she use too--but can't anymore--so now I give her a half can every two hours, instead of the full can every four (she only gets 3 cans a day.) The down fall is that you are invading her private space more often, but the upside is she is not throwing up because of the full/ill feeling she gets from a whole can. Also, I avoid any possible asperation into the lungs. Sorry I dragged on. , Elane, Barbara > >Date: Sun, 06 Jan 2002 07:05:33 -0500 > > > > > >, > > > >with regards to what was on that link with respect to prognosis, there is > >absoulutely no difference between the newly found metabolic diseases, > >mitochondrial diseases or any other zebra disease. At the very early > > " pre-historic " stage of the disease, people can only go by the rare > >descriptions. Unfortunately, the way the message gets delivered or is > >perceived to be delivered to newly dx'ed patients is that the " pre-history " > >is gospel and this is what's going to happen to " your child " too. No doctor > >can ever predict what is going to happen with any one patient with regards > >to ultimate outcomes. Rhys was dx'ed 7 yrs afer mito was first described, > >and if you were to speak to all of us old-timers, those of us with innfants > >were told our kids were going to die within a year. for many of us that > >hasn't happened yet. So, although the description of MADD sounds like doom > >and gloom, don't take it to heart. > > > >As for your ITP, it's not that you have inadequate number of platelys, in > >fact your marrow is in an over production mode to compensate for your > >body's > >immune system which is attacking your platelets. By the time I finished my > >heme/onc fellowship, the I no longer stood for Idiopathic (meaning we don't > >understand the process) to Immune (and auto-immune response). This would > >seem to make sense given your thyroid issues too. What happerns with ITP is > >your platelets are coated with IgG antibodies. The platelets would still > >function even though they are coated. But, your liver and particularly your > >spleen work to remove antigen-antibody (platelets covered by IgG) > >complexes. That's the basis for high-dose IV IgG therapy in ITP. The > >premise > >was to coat or fill all the " holes " in the system so that there were no > >places to hold more antigen-antibody pieces. therefore, the platelets would > >remain in the circulation and do their job. Especially in teenage giirls, > >we > >would be very suspicious of an evolving lupus-like condition developing as > > " historically " ITP was a forewarning of more auto-immune problems. > > > >btw, didn't mean to upset anything, either. > > > >---------------------------------- > > > >Elaine, > > > >I think it would be very worthwhile to pursue a mito workup. I know this is > >hard, and am currently observing how VERY devastating this entire concept > >is > >to one of my newest families, too!! As hard as it may seem, if your > >daughter > >does ultimately have mito, as hard as it is to come to grips with, now more > >than ever, keep in mind that not every affected person has the same > >course!!! Unfortuantely, medical expertise is very hard to find (like I > >discussed back in 1997 with you) whether you're geographically isolated OR > >if you are in a densely populated medical community complete with 5 medical > >schools but none of the doctors know anything about mito. I'd suggest that > >if there is an interest in studying mito there, that the person contact > > " regional " experts, be it in Europe or North America, or those who are in > >Australia for example.There are also some e-mail lists that this doctor > >could join that address both clinical and research-related topics, too. > > > >Hope this helps. > > > >------------------------- > > > >Barbara, > > > >To begin with, I sent Marius some links for Tom, including the UMDF site > >and > >Cohen's article. When I ran in to Tom, he said that he never got my print > >out that I brough to our last staff meeting. so I'll try again. Offered any > >assistance should he like to tap into my resources. > > > >As for the flu shot, I always recommend the shot to my patients. Though > >this > >is controversial (not for me, but the topic definitely is) if one has ill > >effects from the vaccine, they generally will be very small as compared to > >the complications from the full-blown disease itself. As for timing, it is > >more than likely too late. I've already seen about 8 kids with the flu, and > >it seems as though it may be as bad as the 1990 season. I've been seeing > >temps in the 103-105 range for about 5-6 days, complete with teh cough/sore > >throat/vomiting and diarrhea, followed by about another 5 days of coughing > >as the temp comes down and finally getting to be nearly normal after about > >2-2.5 weeks. Speaking with some reps that come to the various offices, it > >appears that it's finally coming to our area. Should you decide to get the > >shot anyway, keep in mind that you won't reap the benefits of the shot for > >about 4-5 weeks from the time you get the shot, and that's about the time > >this year's season ends. > > > >With all due respects to everyone on the list, for very personal reasons, > >I'd elect San Diego even though NYC is only about 85 miles away from here. > > > >-------------------------- > > > >Ken > > > > > >_________________________________________________________________ > >Chat with friends online, try MSN Messenger: http://messenger.msn.com > > > > > > > _________________________________________________________________ > Chat with friends online, try MSN Messenger: http://messenger.msn.com > > > > > Please contact mito-owner with any problems or questions. > > Quote Link to comment Share on other sites More sharing options...
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