Guest guest Posted May 14, 2004 Report Share Posted May 14, 2004 Hey guys, Well, I finally got my muscle biopsy results and I must say, that even though they have kinda confused me, it does confirm that I have mito basically. Its 25 pages in all! But to give a basic summary Dr. Shoffner states that given my clinical features, metabolic features and OXPHOS enzymology that they are consistant with a MELAS varisny. I do not have the common MELAS gene though (3243) but he is going to continue with mtDNA sequencing to try and pinpoint which one I have. Also abnormal was my lactate acid which was 23 (normal was 3-12) and my lactic acid/pyruvate ratio was about 28. My pyruvate wasnt abnormal though, but just within limits (few points below being high) at .83 (normal is between .3 and .9) Also it states that I have multi-complex defects in OXPHOS. Unfortunately, it doesnt state which complexes have the defects! My local mito dr is going to call Dr. Shoffner to find that out though but I have talked with his office and they said that that does mean I have multiple complexes that have defects but my Dr. needs to call to get that info. I wish I knew which ones though. I'll let yall know when I find out. As for the sequencing, that will take up to 12 months, which I dont mind since I do have the diagnosis of mito now. Also several of my amino acids were high in my blood and low in urine, but it was supposively not significant. I know yall talked about having low amino acids in urine and I think even though they say its not significant, its a common finding in mito. Anyways, the only other thing that came back abnormal was something called the MTHFR mutation and it states that I have the heterozygote C677T form of it. This supposively has something to do with the metabolism of homocystiene and folate. I dont know much else about it but it seems to be not as big a deal as the other stuff. Anyways, just wanted to let yall know. I see my mito dr. June 3rd so hopefully will learn more then. I'll keep yall posted. take care, Adrienne Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 14, 2004 Report Share Posted May 14, 2004 Hi Adrienne, I'm glad you finally have answers. I know how difficult it is to wait for those. Sorry that is does confirm the mito as none of us really want that. It must be such a relief to finally know what you are dealing with.. You have been in my family's prayers. So have the rest of you who have been struggling. Take care, AnnMarie- Complex IV Married to my best friend Rick, mom of (14), (11), Cassandra(6) and Joe(4) - complex IV, lactic acidosis, CP, tethered chord syndrome, dysautonomia, and a smile that never quits :-) moonchild62579@... wrote: > Hey guys, > Well, I finally got my muscle biopsy results and I must say, that even > though > they have kinda confused me, it does confirm that I have mito > basically. Its > 25 pages in all! But to give a basic summary Dr. Shoffner states that > given my > clinical features, metabolic features and OXPHOS enzymology that they are > consistant with a MELAS varisny. I do not have the common MELAS gene > though > (3243) but he is going to continue with mtDNA sequencing to try and > pinpoint which > one I have. Also abnormal was my lactate acid which was 23 (normal was > 3-12) > and my lactic acid/pyruvate ratio was about 28. My pyruvate wasnt > abnormal > though, but just within limits (few points below being high) at .83 > (normal is > between .3 and .9) Also it states that I have multi-complex defects in > OXPHOS. > Unfortunately, it doesnt state which complexes have the defects! My > local mito > dr is going to call Dr. Shoffner to find that out though but I have > talked with > his office and they said that that does mean I have multiple complexes > that > have defects but my Dr. needs to call to get that info. I wish I knew > which > ones though. I'll let yall know when I find out. As for the > sequencing, that will > take up to 12 months, which I dont mind since I do have the diagnosis > of mito > now. Also several of my amino acids were high in my blood and low in > urine, > but it was supposively not significant. I know yall talked about > having low > amino acids in urine and I think even though they say its not > significant, its a > common finding in mito. Anyways, the only other thing that came back > abnormal > was something called the MTHFR mutation and it states that I have the > heterozygote C677T form of it. This supposively has something to do > with the > metabolism of homocystiene and folate. I dont know much else about it > but it seems to > be not as big a deal as the other stuff. Anyways, just wanted to let > yall know. > I see my mito dr. June 3rd so hopefully will learn more then. I'll > keep yall > posted. > take care, > Adrienne > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 14, 2004 Report Share Posted May 14, 2004 Adrienne, glad you finally got your results. I know how hard it is to wait for someone to find a solid diagnosis.good luck with the mtDNA tests Betsy, Comples IV Re: muscle biopsy results! Hi Adrienne, I'm glad you finally have answers. I know how difficult it is to wait for those. Sorry that is does confirm the mito as none of us really want that. It must be such a relief to finally know what you are dealing with.. You have been in my family's prayers. So have the rest of you who have been struggling. Take care, AnnMarie- Complex IV Married to my best friend Rick, mom of (14), (11), Cassandra(6) and Joe(4) - complex IV, lactic acidosis, CP, tethered chord syndrome, dysautonomia, and a smile that never quits :-) moonchild62579@... wrote: > Hey guys, > Well, I finally got my muscle biopsy results and I must say, that even > though > they have kinda confused me, it does confirm that I have mito > basically. Its > 25 pages in all! But to give a basic summary Dr. Shoffner states that > given my > clinical features, metabolic features and OXPHOS enzymology that they are > consistant with a MELAS varisny. I do not have the common MELAS gene > though > (3243) but he is going to continue with mtDNA sequencing to try and > pinpoint which > one I have. Also abnormal was my lactate acid which was 23 (normal was > 3-12) > and my lactic acid/pyruvate ratio was about 28. My pyruvate wasnt > abnormal > though, but just within limits (few points below being high) at .83 > (normal is > between .3 and .9) Also it states that I have multi-complex defects in > OXPHOS. > Unfortunately, it doesnt state which complexes have the defects! My > local mito > dr is going to call Dr. Shoffner to find that out though but I have > talked with > his office and they said that that does mean I have multiple complexes > that > have defects but my Dr. needs to call to get that info. I wish I knew > which > ones though. I'll let yall know when I find out. As for the > sequencing, that will > take up to 12 months, which I dont mind since I do have the diagnosis > of mito > now. Also several of my amino acids were high in my blood and low in > urine, > but it was supposively not significant. I know yall talked about > having low > amino acids in urine and I think even though they say its not > significant, its a > common finding in mito. Anyways, the only other thing that came back > abnormal > was something called the MTHFR mutation and it states that I have the > heterozygote C677T form of it. This supposively has something to do > with the > metabolism of homocystiene and folate. I dont know much else about it > but it seems to > be not as big a deal as the other stuff. Anyways, just wanted to let > yall know. > I see my mito dr. June 3rd so hopefully will learn more then. I'll > keep yall > posted. > take care, > Adrienne > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 14, 2004 Report Share Posted May 14, 2004 And we knew it all along didn't we Adrienne. I also think your Mom has Mito as we discussed when I first met you online. It's good to have the answers and I'm sure there are more to come but now they can't say it's " all in your head " and you have some direction. Strangely enough, after all this time I feel that congratulations are in order. Not a congratulation that you have a confirmed diagnosis but because now there is no element of doubt. Hugs, Alice Adrienne, glad you finally got your results. I know how hard it is to wait for someone to find a solid diagnosis.good luck with the mtDNA tests Betsy, Comples IV Hi Adrienne, I'm glad you finally have answers. I know how difficult it is to wait for those. Sorry that is does confirm the mito as none of us really want that. It must be such a relief to finally know what you are dealing with..You have been in my family's prayers. So have the rest of you who have been struggling. Take care, AnnMarie- Complex IV Hey guys, Well, I finally got my muscle biopsy results and I must say, that even though they have kinda confused me, it does confirm that I have mito basically. Its 25 pages in all! But to give a basic summary Dr. Shoffner states that given my clinical features, metabolic features and OXPHOS enzymology that they are consistant with a MELAS varisny. I do not have the common MELAS gene though(3243) but he is going to continue with mtDNA sequencing to try and pinpoint which one I have. Also abnormal was my lactate acid which was 23 (normal was 3-12) and my lactic acid/pyruvate ratio was about 28. My pyruvate wasnt abnormal though, but just within limits (few points below being high) at .83 (normal is between .3 and .9) Also it states that I have multi-complex defects in OXPHOS. Unfortunately, it doesnt state which complexes have the defects! My local mito dr is going to call Dr. Shoffner to find that out though but I have talked with his office and they said that that does mean I have multiple complexes that have defects but my Dr. needs to call to get that info. I wish I knew which ones though. I'll let yall know when I find out. As for the sequencing, that will take up to 12 months, which I dont mind since I do have the diagnosis of mito now. Also several of my amino acids were high in my blood and low in urine, but it was supposively not significant. I know yall talked about having low amino acids in urine and I think even though they say its not significant, its a common finding in mito. Anyways, the only other thing that came back abnormal was something called the MTHFR mutation and it states that I have the heterozygote C677T form of it. This supposively has something to do with the metabolism of homocystiene and folate. I dont know much else about it but it seems to be not as big a deal as the other stuff. Anyways, just wanted to let yall know. I see my mito dr. June 3rd so hopefully will learn more then. I'll keep yall posted. Adrienne > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 14, 2004 Report Share Posted May 14, 2004 Adrienne, I second Alice's congratulations. This was a hard-won diagnosis. You have certainly earned it! I hope one day that we all won't have to work so hard to get answers, but until then, it is inspiring to observe yet another young woman who refused to give up. Kudos! P.S. You might enjoy this diagnosis cartoon.... http://www.spiralnotebook.org/poppingthecork/index.html Barbara > Hey guys, > Well, I finally got my muscle biopsy results and I must say, that even though > they have kinda confused me, it does confirm that I have mito basically. Its > 25 pages in all! But to give a basic summary Dr. Shoffner states that given my > clinical features, metabolic features and OXPHOS enzymology that they are > consistant with a MELAS varisny. I do not have the common MELAS gene though > (3243) but he is going to continue with mtDNA sequencing to try and pinpoint which > one I have. Also abnormal was my lactate acid which was 23 (normal was 3-12) > and my lactic acid/pyruvate ratio was about 28. My pyruvate wasnt abnormal > though, but just within limits (few points below being high) at .83 (normal is > between .3 and .9) Also it states that I have multi-complex defects in OXPHOS. > Unfortunately, it doesnt state which complexes have the defects! My local mito > dr is going to call Dr. Shoffner to find that out though but I have talked with > his office and they said that that does mean I have multiple complexes that > have defects but my Dr. needs to call to get that info. I wish I knew which > ones though. I'll let yall know when I find out. As for the sequencing, that will > take up to 12 months, which I dont mind since I do have the diagnosis of mito > now. Also several of my amino acids were high in my blood and low in urine, > but it was supposively not significant. I know yall talked about having low > amino acids in urine and I think even though they say its not significant, its a > common finding in mito. Anyways, the only other thing that came back abnormal > was something called the MTHFR mutation and it states that I have the > heterozygote C677T form of it. This supposively has something to do with the > metabolism of homocystiene and folate. I dont know much else about it but it seems to > be not as big a deal as the other stuff. Anyways, just wanted to let yall know. > I see my mito dr. June 3rd so hopefully will learn more then. I'll keep yall > posted. > take care, > Adrienne > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 14, 2004 Report Share Posted May 14, 2004 I was wondering if anyone else here has a complex II defect Thanks S. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 14, 2004 Report Share Posted May 14, 2004 Adrienne, I will also go along with Alice's congratulations. We knew you had mito before, but I know it is a relief to be able to have it confirmed. You have been through a long, hard fight to get to this point. I am continuing to keep you in my thoughts and prayers. Smiles, a On Fri, 14 May 2004 09:29:10 EDT moonchild62579@... writes: Hey guys, Well, I finally got my muscle biopsy results and I must say, that even though they have kinda confused me, it does confirm that I have mito basically. Its 25 pages in all! But to give a basic summary Dr. Shoffner states that given my clinical features, metabolic features and OXPHOS enzymology that they are consistant with a MELAS varisny. I do not have the common MELAS gene though (3243) but he is going to continue with mtDNA sequencing to try and pinpoint which one I have. Also abnormal was my lactate acid which was 23 (normal was 3-12) and my lactic acid/pyruvate ratio was about 28. My pyruvate wasnt abnormal though, but just within limits (few points below being high) at .83 (normal is between .3 and .9) Also it states that I have multi-complex defects in OXPHOS. Unfortunately, it doesnt state which complexes have the defects! My local mito dr is going to call Dr. Shoffner to find that out though but I have talked with his office and they said that that does mean I have multiple complexes that have defects but my Dr. needs to call to get that info. I wish I knew which ones though. I'll let yall know when I find out. As for the sequencing, that will take up to 12 months, which I dont mind since I do have the diagnosis of mito now. Also several of my amino acids were high in my blood and low in urine, but it was supposively not significant. I know yall talked about having low amino acids in urine and I think even though they say its not significant, its a common finding in mito. Anyways, the only other thing that came back abnormal was something called the MTHFR mutation and it states that I have the heterozygote C677T form of it. This supposively has something to do with the metabolism of homocystiene and folate. I dont know much else about it but it seems to be not as big a deal as the other stuff. Anyways, just wanted to let yall know. I see my mito dr. June 3rd so hopefully will learn more then. I'll keep yall posted. take care, Adrienne Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 14, 2004 Report Share Posted May 14, 2004 Adrienne I am so very happy for you, that you are finally getting answers. I know I was very relieved to find out it really wasn't in my head. I'll continue to keep you in my thoughts. laurie > From: moonchild62579@... > Reply-To: > Date: Fri, 14 May 2004 09:29:10 EDT > To: > Subject: muscle biopsy results! > > Hey guys, > Well, I finally got my muscle biopsy results and I must say, that even though > they have kinda confused me, it does confirm that I have mito basically. Its > 25 pages in all! But to give a basic summary Dr. Shoffner states that given my > clinical features, metabolic features and OXPHOS enzymology that they are > consistant with a MELAS varisny. I do not have the common MELAS gene though > (3243) but he is going to continue with mtDNA sequencing to try and pinpoint > which > one I have. Also abnormal was my lactate acid which was 23 (normal was 3-12) > and my lactic acid/pyruvate ratio was about 28. My pyruvate wasnt abnormal > though, but just within limits (few points below being high) at .83 (normal is > between .3 and .9) Also it states that I have multi-complex defects in OXPHOS. > Unfortunately, it doesnt state which complexes have the defects! My local mito > dr is going to call Dr. Shoffner to find that out though but I have talked > with > his office and they said that that does mean I have multiple complexes that > have defects but my Dr. needs to call to get that info. I wish I knew which > ones though. I'll let yall know when I find out. As for the sequencing, that > will > take up to 12 months, which I dont mind since I do have the diagnosis of mito > now. Also several of my amino acids were high in my blood and low in urine, > but it was supposively not significant. I know yall talked about having low > amino acids in urine and I think even though they say its not significant, its > a > common finding in mito. Anyways, the only other thing that came back abnormal > was something called the MTHFR mutation and it states that I have the > heterozygote C677T form of it. This supposively has something to do with the > metabolism of homocystiene and folate. I dont know much else about it but it > seems to > be not as big a deal as the other stuff. Anyways, just wanted to let yall > know. > I see my mito dr. June 3rd so hopefully will learn more then. I'll keep yall > posted. > take care, > Adrienne > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 14, 2004 Report Share Posted May 14, 2004 Adrienne, I'm so glad you finally have some answers, but I'm sure like the rest of you, you would have preferred to win a sweepstakes instead. Now you KNOW you belong here, as if there was ever any doubt. I hope this is somewhat easier for you than not knowing for sure what the dx was. Hugs, moonchild62579@... wrote: >Hey guys, >Well, I finally got my muscle biopsy results and I must say, that even though >they have kinda confused me, it does confirm that I have mito basically. Its >25 pages in all! But to give a basic summary Dr. Shoffner states that given my >clinical features, metabolic features and OXPHOS enzymology that they are >consistant with a MELAS varisny. I do not have the common MELAS gene though >(3243) but he is going to continue with mtDNA sequencing to try and pinpoint which >one I have. Also abnormal was my lactate acid which was 23 (normal was 3-12) >and my lactic acid/pyruvate ratio was about 28. My pyruvate wasnt abnormal >though, but just within limits (few points below being high) at .83 (normal is >between .3 and .9) Also it states that I have multi-complex defects in OXPHOS. >Unfortunately, it doesnt state which complexes have the defects! My local mito >dr is going to call Dr. Shoffner to find that out though but I have talked with >his office and they said that that does mean I have multiple complexes that >have defects but my Dr. needs to call to get that info. I wish I knew which >ones though. I'll let yall know when I find out. As for the sequencing, that will >take up to 12 months, which I dont mind since I do have the diagnosis of mito >now. Also several of my amino acids were high in my blood and low in urine, >but it was supposively not significant. I know yall talked about having low >amino acids in urine and I think even though they say its not significant, its a >common finding in mito. Anyways, the only other thing that came back abnormal >was something called the MTHFR mutation and it states that I have the >heterozygote C677T form of it. This supposively has something to do with the >metabolism of homocystiene and folate. I dont know much else about it but it seems to >be not as big a deal as the other stuff. Anyways, just wanted to let yall know. >I see my mito dr. June 3rd so hopefully will learn more then. I'll keep yall >posted. >take care, >Adrienne > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 14, 2004 Report Share Posted May 14, 2004 Hi Adrienne, I'm glad you finally recieved your results but I'm sorry that you have mito. If you don't mind, could I ask you a question? I just received my preliminary results last week and the report is only a page and a half. I was very curious when I read that yours was 25 pages. My muscle was tested for the following: - Hematoxylin & eosin - Gomori trichrome - NADH-TR - SDH - ATPase - Acid Phosphatase, - COX - myophosphorylase - myoadenylate deaminase - phosphofructokinase The only oustanding test is the one for CPT. Everything was negative except for Type II muscle atrophy. Can you tell me what testing was done on yours that was not done on mine. Are the tests standard or do they base the tests on symptoms? I had my biopsy done at Columbia in NY. Where did you have yours? Sorry for all the questions but I want to make sure they did all the tests. Thanks for your help. Lynn > Hey guys, > Well, I finally got my muscle biopsy results and I must say, that even though > they have kinda confused me, it does confirm that I have mito basically. Its > 25 pages in all! But to give a basic summary Dr. Shoffner states that given my > clinical features, metabolic features and OXPHOS enzymology that they are > consistant with a MELAS varisny. I do not have the common MELAS gene though > (3243) but he is going to continue with mtDNA sequencing to try and pinpoint which > one I have. Also abnormal was my lactate acid which was 23 (normal was 3-12) > and my lactic acid/pyruvate ratio was about 28. My pyruvate wasnt abnormal > though, but just within limits (few points below being high) at .83 (normal is > between .3 and .9) Also it states that I have multi-complex defects in OXPHOS. > Unfortunately, it doesnt state which complexes have the defects! My local mito > dr is going to call Dr. Shoffner to find that out though but I have talked with > his office and they said that that does mean I have multiple complexes that > have defects but my Dr. needs to call to get that info. I wish I knew which > ones though. I'll let yall know when I find out. As for the sequencing, that will > take up to 12 months, which I dont mind since I do have the diagnosis of mito > now. Also several of my amino acids were high in my blood and low in urine, > but it was supposively not significant. I know yall talked about having low > amino acids in urine and I think even though they say its not significant, its a > common finding in mito. Anyways, the only other thing that came back abnormal > was something called the MTHFR mutation and it states that I have the > heterozygote C677T form of it. This supposively has something to do with the > metabolism of homocystiene and folate. I dont know much else about it but it seems to > be not as big a deal as the other stuff. Anyways, just wanted to let yall know. > I see my mito dr. June 3rd so hopefully will learn more then. I'll keep yall > posted. > take care, > Adrienne > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 19, 2004 Report Share Posted May 19, 2004 Hi guys, I just wanted to thank everyone for their responses about my muscle biopsy results. Like several said, its kinda a catch 22 or whatnot to celebrate having a definite diagnosis, but its getting the ball rolling in many courts- trying to get back onto my father's insurance, getting SSD/SSI, getting better treatment and seeing my drs more often. I had been dealing with sesonal allergies these past few wks and now I believe I have respiratory infections and other stuff going on- I had felt like I was just beginning to improve with my symptoms and now this has just knocked me down a bit again- really making my GI symptoms and fatigue and dizziness bad. I might be going to see my dr Friday about this- cant see him any sooner just cuz I have so many other things going on. See my lawyer tomorrow and go back to cardiologist Monday. I hope to respond to several posts soon that I have saved but just cant right now, hard to even sit up. I'll keep yall posted. Everyones in my thoughts and prayers. take care, Adrienne Quote Link to comment Share on other sites More sharing options...
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