Guest guest Posted April 5, 2005 Report Share Posted April 5, 2005 Hi everyone, I know there are a lot of people who are not comfortable talking about this, so please, I'm not trying to hurt anyone. I'm just trying to make sense of an illogical disease. We just saw a geneticist twice, I dug a lot of family history up and she just blew everything off. Between my aunts and uncles and my cousins, in two generations, we have had 9 kids pass away, 7 at birth or within a few days, the other two at 3 and 4 years old, 7 of which were boys, 2 girls, we've had brain tumor, tremor, MR, birth defects, stigmatosis, leukemia, distonia,and thyroid problems that I have uncovered. I can't believe these things are irrelevant. My question is if anyone has found anything like this in their family history, from everything I've read these are symptons of mito, right? I know this is a subject some of you would rather not talk about, especially with recent events. I am so sorry, and like I said I don't mean this to hurt anyone, we deal with enough already without adding extra hurt to it. I just want to make sure we are truly heading in the right direction, I owe that to Leighann, if theres a possibility we could be looking at something else I need to know. Thanks everybody, Lois Please contact mito-owner with any problems or questions. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 5, 2005 Report Share Posted April 5, 2005 Hi Lois, On matters such as these, we try to get a second opinion if things seem unresolved or loosely explained. We haven't had to very often, but occasionally there is a person who may blow something off or just not know an appropriate solution to the situation. In your case, this is one woman's opinion on one day of the year. If you're able to obtain a second opinion, that may be helpful. Take care, Jonilois saunders wrote: Hi everyone, I know there are a lot of people who are not comfortable talking about this, so please, I'm not trying to hurt anyone. I'm just trying to make sense of an illogical disease. We just saw a geneticist twice, I dug a lot of family history up and she just blew everything off. Between my aunts and uncles and my cousins, in two generations, we have had 9 kids pass away, 7 at birth or within a few days, the other two at 3 and 4 years old, 7 of which were boys, 2 girls, we've had brain tumor, tremor, MR, birth defects, stigmatosis, leukemia, distonia,and thyroid problems that I have uncovered. I can't believe these things are irrelevant. My question is if anyone has found anything like this in their family history, from everything I've read these are symptons of mito, right? I know this is a subject some of you would rather not talk about, especially with recent events. I am so sorry, and like I said I don't mean this to hurt anyone, we deal with enough already without adding extra hurt to it. I just want to make sure we are truly heading in the right direction, I owe that to Leighann, if theres a possibility we could be looking at something else I need to know. Thanks everybody, Lois Please contact mito-owner with any problems or questions. Please contact mito-owner with any problems or questions. Yahoo! Messenger Show us what our next emoticon should look like. Join the fun. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 5, 2005 Report Share Posted April 5, 2005 Hello Lois, When we went in November of last year to see a geneticist I did the same as you and uncovered a lot of family history of chronic diseases and such. It seemed as though he just took notes and pretty much then left the decision of doing the muscle biopsy up to me. Before I went in there I had already been doing my own research on this disease and so I was able to make the decision fairly easily. I have been looking for a dx for 5yrs and am still waiting for our results. I think that if you are not comfortable with how they handled all of the info you gave them maybe ask them direct questions on what they want to do now. If you can't get a direct answer find someone who will. Nothing is more important then our children's health. I know days get tough and they are always toughest when your in the middle of a flare up of their condition, but I am so grateful that I have gotten so many great responses of hope. Thank you for your words of encouragement. I should have 's results any time now, it's been 9 weeks now. I hope you find what you need, our geneticist work closely with doctor's researching Mito. Does the one you see very knowledgeable in this disease? Keep in touch, Brubakerlois saunders wrote: Hi everyone, I know there are a lot of people who are not comfortable talking about this, so please, I'm not trying to hurt anyone. I'm just trying to make sense of an illogical disease. We just saw a geneticist twice, I dug a lot of family history up and she just blew everything off. Between my aunts and uncles and my cousins, in two generations, we have had 9 kids pass away, 7 at birth or within a few days, the other two at 3 and 4 years old, 7 of which were boys, 2 girls, we've had brain tumor, tremor, MR, birth defects, stigmatosis, leukemia, distonia,and thyroid problems that I have uncovered. I can't believe these things are irrelevant. My question is if anyone has found anything like this in their family history, from everything I've read these are symptons of mito, right? I know this is a subject some of you would rather not talk about, especially with recent events. I am so sorry, and like I said I don't mean this to hurt anyone, we deal with enough already without adding extra hurt to it. I just want to make sure we are truly heading in the right direction, I owe that to Leighann, if theres a possibility we could be looking at something else I need to know. Thanks everybody, Lois Please contact mito-owner with any problems or questions. Please contact mito-owner with any problems or questions. Yahoo! Messenger Show us what our next emoticon should look like. Join the fun. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 5, 2005 Report Share Posted April 5, 2005 Joni, First of all, thanks so much for the response. This is why I love this group so much, you guys help to put things in perspective. Hopefully we can start on getting a second opinion. I think this is just too much info to blow off. Thanks again, Lois Re: A very difficult question Hi Lois, On matters such as these, we try to get a second opinion if things seem unresolved or loosely explained. We haven't had to very often, but occasionally there is a person who may blow something off or just not know an appropriate solution to the situation. In your case, this is one woman's opinion on one day of the year. If you're able to obtain a second opinion, that may be helpful. Take care, Jonilois saunders wrote: Hi everyone, I know there are a lot of people who are not comfortable talking about this, so please, I'm not trying to hurt anyone. I'm just trying to make sense of an illogical disease. We just saw a geneticist twice, I dug a lot of family history up and she just blew everything off. Between my aunts and uncles and my cousins, in two generations, we have had 9 kids pass away, 7 at birth or within a few days, the other two at 3 and 4 years old, 7 of which were boys, 2 girls, we've had brain tumor, tremor, MR, birth defects, stigmatosis, leukemia, distonia,and thyroid problems that I have uncovered. I can't believe these things are irrelevant. My question is if anyone has found anything like this in their family history, from everything I've read these are symptons of mito, right? I know this is a subject some of you would rather not talk about, especially with recent events. I am so sorry, and like I said I don't mean this to hurt anyone, we deal with enough already without adding extra hurt to it. I just want to make sure we are truly heading in the right direction, I owe that to Leighann, if theres a possibility we could be looking at something else I need to know. Thanks everybody, Lois Please contact mito-owner with any problems or questions. Please contact mito-owner with any problems or questions. Yahoo! MessengerShow us what our next emoticon should look like. Join the fun. Please contact mito-owner with any problems or questions. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 5, 2005 Report Share Posted April 5, 2005 , I can't ask her anything further, she ran a few tests, got us to bring in family history, and like you left the decision of the biopsy in our hands, now shes done. She doesn't feel we need a follow up. The tests she did were done while Leighann was healthy, so when they came back normal she was done. Leighann's labs are only off in shes in crisis. I really do think we need a second opinion. As far as the encouragement, its always here, thats what makes this group so great. Hopefully 's results come back soon, that's so long to wait for a dx. We will always have hopes for the best news. The geneticist we saw is supposed to be very knowledgeable with mito, she just doesn't share her thoughts a lot, I think we're going to get a copy of her office visit records, that seems to be the easiest way to get honest opinion from the docs we deal with. Thanks again so much for the support, email sometime if you need to chat, Lois Re: A very difficult question Hello Lois, When we went in November of last year to see a geneticist I did the same as you and uncovered a lot of family history of chronic diseases and such. It seemed as though he just took notes and pretty much then left the decision of doing the muscle biopsy up to me. Before I went in there I had already been doing my own research on this disease and so I was able to make the decision fairly easily. I have been looking for a dx for 5yrs and am still waiting for our results. I think that if you are not comfortable with how they handled all of the info you gave them maybe ask them direct questions on what they want to do now. If you can't get a direct answer find someone who will. Nothing is more important then our children's health. I know days get tough and they are always toughest when your in the middle of a flare up of their condition, but I am so grateful that I have gotten so many great responses of hope. Thank you for your words of encouragement. I should have 's results any time now, it's been 9 weeks now. I hope you find what you need, our geneticist work closely with doctor's researching Mito. Does the one you see very knowledgeable in this disease? Keep in touch, Brubakerlois saunders wrote: Hi everyone, I know there are a lot of people who are not comfortable talking about this, so please, I'm not trying to hurt anyone. I'm just trying to make sense of an illogical disease. We just saw a geneticist twice, I dug a lot of family history up and she just blew everything off. Between my aunts and uncles and my cousins, in two generations, we have had 9 kids pass away, 7 at birth or within a few days, the other two at 3 and 4 years old, 7 of which were boys, 2 girls, we've had brain tumor, tremor, MR, birth defects, stigmatosis, leukemia, distonia,and thyroid problems that I have uncovered. I can't believe these things are irrelevant. My question is if anyone has found anything like this in their family history, from everything I've read these are symptons of mito, right? I know this is a subject some of you would rather not talk about, especially with recent events. I am so sorry, and like I said I don't mean this to hurt anyone, we deal with enough already without adding extra hurt to it. I just want to make sure we are truly heading in the right direction, I owe that to Leighann, if theres a possibility we could be looking at something else I need to know. Thanks everybody, Lois Please contact mito-owner with any problems or questions. Please contact mito-owner with any problems or questions. Yahoo! MessengerShow us what our next emoticon should look like. Join the fun. Please contact mito-owner with any problems or questions. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 6, 2005 Report Share Posted April 6, 2005 We did look back at family history after Gracies diagnosis. We did see a link with some things. Our most outstaning case would be that of my uncle. He was tragically killed at the age of 9 from a horse riding accident, but at the time of his death the doctors told his parents that he would have never made it another year. They had diagnosed him as Leukemia, but this was in the 1930's so obviously testing was not done. My grandmother had told my mother that he was always a very, very small child. I guess even at the age of 9, she had to buy baby sized shoes for him. Ironically when I was 4 I became very ill. I was admitted into the hospital and bloodwork was done. My parents were informed that I, infact, had Leukemia. Well after 4 days of hydration I was better. I went back for follow up bloodwork and was fine. Obviously the Leukemia was a fluke, but the doctors never did figure this out. (I told Dr. Cohen about this and he really wants me to track down the medical records, so he could see if it is related, or just really interesting.) Although all my other children are healthy (had simple bloodwork, completely normal) I have never had a baby without reflux. All of my children has had some sort of food intolerance as a baby. We did talk to Dr.Cohen about all of this and he thinks that there may be a way of getting a "mild" mito. He suggested that to get full blown mito, both parents would need an exact gene. But, if both parents would have a similar gene the child may get a much milder symptomatic and physical form. Of course this is only from an inherited version, and does not hold true if the child is maternally inherited. This could explain why some of family history has alot of unusual unexplained problems. He suggested that may also be the case for myself. I was a very small, very ill child but seemed to grow out of it after puberty. I still have little quirk things, but am overall healthy. Best wishes Find just what you're after with the new, more precise MSN Search - try it now! Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 6, 2005 Report Share Posted April 6, 2005 While we were still searching for a diagnosis for Lea we spent alot of time looking at family history. Strange thing is that we found very little.... I do have a great grandmother (my mom's side) who lost a baby within a few days of birth, but there is no record of why the baby died. My mom says that all she was told is that it was a difficult birth. My grandmother (on my dad's side) says that there was some family history of our relatives being sensitive to medications used for sedation for surgery. Apparently some of them died using a certain medication?? On dh's side there is very little too... except for an " estranged " uncle who has some mental handicaps. Nobody knows exactly what caused him to be this way, except that he had some problems since birth. Although on both sides of the family (mine and dh's) there are a few issues with extreme short stature.... who knows if it's mito or just plain genetics?? le and 2yo Lea, living with partial complex 1 and 6 other very healthy kiddos! > Hi everyone, > > I know there are a lot of people who are not comfortable talking about this, so please, I'm not trying to > hurt anyone. I'm just trying to make sense of an illogical disease. We just saw a geneticist twice, I > dug a lot of family history up and she just blew everything off. Between my aunts and uncles and my cousins, > in two generations, we have had 9 kids pass away, 7 at birth or within a few days, the other two at 3 and 4 years > old, 7 of which were boys, 2 girls, we've had brain tumor, tremor, MR, birth defects, stigmatosis, leukemia, > distonia,and thyroid problems that I have uncovered. I can't believe these things are irrelevant. > > My question is if anyone has found anything like this in their family history, from everything I've read > these are symptons of mito, right? I know this is a subject some of you would rather not talk about, especially > with recent events. I am so sorry, and like I said I don't mean this to hurt anyone, we deal with enough > already without adding extra hurt to it. I just want to make sure we are truly heading in the right direction, > I owe that to Leighann, if theres a possibility we could be looking at something else I need to know. > > Thanks everybody, > Lois > > > > > Please contact mito-owner with any problems or questions. > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 6, 2005 Report Share Posted April 6, 2005 le, Thank you so much for your reply, it's so hard to tell what is or isn't mito related when it's a ways in the past, and unfortunately thats where most of my information is from also. Thank you so much for sharing this with me. It makes it easier to at least be able to compare sometimes. I guess I'm just looking for something logical in our new illogical world. Again thanks for sharing, it helps. Lois > [Original Message] > > To: <Mito > > Date: 4/6/2005 9:49:00 AM > Subject: Re: A very difficult question > > > > While we were still searching for a diagnosis for Lea we spent alot > of time looking at family history. Strange thing is that we found > very little.... I do have a great grandmother (my mom's side) who > lost a baby within a few days of birth, but there is no record of > why the baby died. My mom says that all she was told is that it was > a difficult birth. My grandmother (on my dad's side) says that there > was some family history of our relatives being sensitive to > medications used for sedation for surgery. Apparently some of them > died using a certain medication?? > > On dh's side there is very little too... except for an " estranged " > uncle who has some mental handicaps. Nobody knows exactly what > caused him to be this way, except that he had some problems since > birth. > > Although on both sides of the family (mine and dh's) there are a few > issues with extreme short stature.... who knows if it's mito or just > plain genetics?? > > le and 2yo Lea, living with partial complex 1 > and 6 other very healthy kiddos! > > > > > > Hi everyone, > > > > I know there are a lot of people who are not comfortable talking > about this, so please, I'm not trying to > > hurt anyone. I'm just trying to make sense of an illogical > disease. We just saw a geneticist twice, I > > dug a lot of family history up and she just blew everything off. > Between my aunts and uncles and my cousins, > > in two generations, we have had 9 kids pass away, 7 at birth or > within a few days, the other two at 3 and 4 years > > old, 7 of which were boys, 2 girls, we've had brain tumor, tremor, > MR, birth defects, stigmatosis, leukemia, > > distonia,and thyroid problems that I have uncovered. I can't > believe these things are irrelevant. > > > > My question is if anyone has found anything like this in their > family history, from everything I've read > > these are symptons of mito, right? I know this is a subject some > of you would rather not talk about, especially > > with recent events. I am so sorry, and like I said I don't mean > this to hurt anyone, we deal with enough > > already without adding extra hurt to it. I just want to make sure > we are truly heading in the right direction, > > I owe that to Leighann, if theres a possibility we could be > looking at something else I need to know. > > > > Thanks everybody, > > Lois > > > > > > > > > > Please contact mito-owner with any problems or > questions. > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
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