Guest guest Posted May 17, 2000 Report Share Posted May 17, 2000 In a message dated 5/17/00 11:28:33 AM Pacific Daylight Time, momalboe@... writes: > Given 's history I would almost recommend redoing the A-T test. , Terri has a good point here ... you can have A-T without the elevated AFP levels ... or telangiectases of the eyes/face. One of the little guys who have A-T doesn't have the telangiectases in his eyes but has had to go in and have blood vessels cauterized in the urinary tract (massive blood in urine episodes), there are several other factors that would tip the scale one way or the other such as abnormal CEA levels, IG quantive levels, etc. From what I understand there is a Radiosensitivity (SP?) blood test that is done thru Dr. Gatti's office that seems to be more definitive in regard to A-T or one of it's variants. Also IF you do have the AFP test done again make sure the lab drawing it follows the correct procedures!!!!! The following website might be helpful for you??? http://www.atcp.org/diagnoat.htm I am sorry to hear that your doctor isn't willing to refer your child to a dermatologist!!! Is it possible to pay out of pocket for the initial visit ??? I've gone the review route and the results were that the ins. co. said that we had to " go thru all the in-network providers FIRST before they'd even consider letting us go to Ohio or Atlanta. " So we are steadily going thru the list and still saving money in case we have to pay for it ourselves. I don't know which will come first ... if the ins. covers it then we are going to have one heck of a great vacation while there that's for sure <wink> Good luck and best wishes!!!! Romona http://members.aol.com/elf808 (I KNOW I gotta update that page soon but who has the time these days???) Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 18, 2000 Report Share Posted May 18, 2000 The neurologist insists that his alphafetoprotein would have been elevated if he had A-T. I already asked her about this. What's more, I asked her to repeat the biotinidase test, as has every single symptom of that disease...right down to the laryngeal stridor and skin rash. The only thing he doesn't have is alopecia and seizures, and that's only in about 50% of the kids. She insists these tests are right the first time around, but I don't buy it. We did three acylcarnitine tests. The first two showed a miniscule elevation on carbon-length 16. The doctor was sure that meant he had a beta-oxidation defect. Then I spoke to Dr. Kelley, who said you need to fast for that test. So we did it a third time fasting and, wouldn't you know it, the acylcarnitine profile was completely normal! I don't know how to convince her to re-do the test. However, I don't believe that optic atrophy is a symptom of that disorder. Terri Mason wrote: > , > > Given 's history I would almost recommend redoing the A-T test. Carl > does have a couple very small ones around the outside of his eyes but they > are small and they have not gotten any bigger since they initially appeared > (about 3 years ago). > > Sorry I can't be of more help. > > Terri > > > > >Reply-To: Mitoegroups > >To: Mitoegroups > >Subject: Broken blood vessels > >Date: Tue, 16 May 2000 17:47:57 -0400 > > > > > > > >I am hoping someone can help me with this. Over the past 6 months my son > >has developed broken blood > >vessels (telangelisicas) on both of his cheeks. They are spreading and > >getting brighter red/purple. The > >doctor (regular ped as well as the neurologist) act like it's nothing, but > >I don't agree. (My son has > >been tested for A-T, so we know it's not that). I have never heard of a > >person's cheeks just breaking out > >with broken blood vessels that seem to be spreading; it's usually something > >you see in elderly people. It > >almost seems like there is something malignant going on. The ped. won't > >even refer me to a dermatologist! > > > >Does this sound mito-related or maybe something else? It is definitely > >bizarre and looks really bad, too! > > > > > > > > ________________________________________________________________________ > Get Your Private, Free E-mail from MSN Hotmail at http://www.hotmail.com > > ------------------------------------------------------------------------ > Accurate impartial advice on everything from laptops to table saws. > http://click./1/3020/2/_/368657/_/958588048/ > ------------------------------------------------------------------------ > > Brought to you by www.imdn.org - an on-line support group for those affected by mitochondrial disease. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 18, 2000 Report Share Posted May 18, 2000 I think you are right: I am going to have to pay out of pocket to see someone. The pediatrician just doesn't seem to get it. I mean, the thing that really is striking is that I don't ever see telangiectases as a symptom of mito, but I DO see it as a symptom of A-T. AND my son has ataxia. DUH! You'd think the neurologist would be a little more suspicious. I mean, she's willing to jump to the conclusion that has Leighs based upon an abnormal ABR (which, by the way, can be abnormal for about one hundred reasons other than mito), but won't reconsider doing the alpha test or the biotinidase. I think doctors trust lab technicians a little too much. I mean, every profession has good people and stupid people. You never know which one is studying your kids blood. Elf808@... wrote: > In a message dated 5/17/00 11:28:33 AM Pacific Daylight Time, > momalboe@... writes: > > > Given 's history I would almost recommend redoing the A-T test. > > , > Terri has a good point here ... you can have A-T without the elevated AFP > levels ... or telangiectases of the eyes/face. One of the little guys who > have A-T doesn't have the telangiectases in his eyes but has had to go in and > have blood vessels cauterized in the urinary tract (massive blood in urine > episodes), there are several other factors that would tip the scale one way > or the other such as abnormal CEA levels, IG quantive levels, etc. From what > I understand there is a Radiosensitivity (SP?) blood test that is done thru > Dr. Gatti's office that seems to be more definitive in regard to A-T or one > of it's variants. Also IF you do have the AFP test done again make sure the > lab drawing it follows the correct procedures!!!!! The following website > might be helpful for you??? > http://www.atcp.org/diagnoat.htm > > I am sorry to hear that your doctor isn't willing to refer your child to a > dermatologist!!! Is it possible to pay out of pocket for the initial visit > ??? I've gone the review route and the results were that the ins. co. said > that we had to " go thru all the in-network providers FIRST before they'd even > consider letting us go to Ohio or Atlanta. " So we are steadily going thru the > list and still saving money in case we have to pay for it ourselves. I don't > know which will come first ... if the ins. covers it then we are going to > have one heck of a great vacation while there that's for sure <wink> > > Good luck and best wishes!!!! > Romona > http://members.aol.com/elf808 (I KNOW I gotta update that page soon but > who has the time these days???) > > ------------------------------------------------------------------------ > Would you like to save big on your phone bill -- and keep on saving > more each month? Join beMANY! Our huge buying group gives you Long Distance > rates which fall monthly, plus an extra $60 in FREE calls! > http://click./1/2567/2/_/368657/_/958591152/ > ------------------------------------------------------------------------ > > Brought to you by www.imdn.org - an on-line support group for those affected by mitochondrial disease. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 18, 2000 Report Share Posted May 18, 2000 - you are right. A-T isn't associated with optic nerve atrophy so that's probably a long shot. One other thing that I'm not sure of is a syndrome known as CAPOS. It's associated with ataxia, optic atrophy, sensorineural hearing loss and pes cavus (I don't know what that is let alone if has it or not!). I believe it is a mitochondrial disorder but other than that I don't know much about it. Also, what about Friedrich's Ataxia - smack me if I'm bringing up stuff that's already been ruled out! And I agree with you on the labs. It seems ridiculous that they won't repeat the tests - especially given the relatively low cost! Terri > > > In a message dated 5/17/00 11:28:33 AM Pacific Daylight Time, > > momalboe@h... writes: > > > > > Given 's history I would almost recommend redoing the A-T test. > > > > , > > Terri has a good point here ... you can have A-T without the elevated AFP > > levels ... or telangiectases of the eyes/face. One of the little guys who > > have A-T doesn't have the telangiectases in his eyes but has had to go in and > > have blood vessels cauterized in the urinary tract (massive blood in urine > > episodes), there are several other factors that would tip the scale one way > > or the other such as abnormal CEA levels, IG quantive levels, etc. From what > > I understand there is a Radiosensitivity (SP?) blood test that is done thru > > Dr. Gatti's office that seems to be more definitive in regard to A-T or one > > of it's variants. Also IF you do have the AFP test done again make sure the > > lab drawing it follows the correct procedures!!!!! The following website > > might be helpful for you??? > > http://www.atcp.org/diagnoat.htm > > > > I am sorry to hear that your doctor isn't willing to refer your child to a > > dermatologist!!! Is it possible to pay out of pocket for the initial visit > > ??? I've gone the review route and the results were that the ins. co. said > > that we had to " go thru all the in-network providers FIRST before they'd even > > consider letting us go to Ohio or Atlanta. " So we are steadily going thru the > > list and still saving money in case we have to pay for it ourselves. I don't > > know which will come first ... if the ins. covers it then we are going to > > have one heck of a great vacation while there that's for sure <wink> > > > > Good luck and best wishes!!!! > > Romona > > http://members.aol.com/elf808 (I KNOW I gotta update that page soon but > > who has the time these days???) > > > > ---------------------------------------------------------------------- -- > > Would you like to save big on your phone bill -- and keep on saving > > more each month? Join beMANY! Our huge buying group gives you Long Distance > > rates which fall monthly, plus an extra $60 in FREE calls! > > http://click./1/2567/2/_/368657/_/958591152/ > > ---------------------------------------------------------------------- -- > > > > Brought to you by www.imdn.org - an on-line support group for those affected by mitochondrial disease. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 18, 2000 Report Share Posted May 18, 2000 Pes Cavus is a high-arched foot. has flat feet, so I know he doesn't have that, but I will ask the doc about CAPOS anyway (why the heck not?). We have already done the test for Friedrich's Ataxia and it was negative, as well as tests for all forms of spinal cerebral ataxia. I want to mention Charcot-Marie-Tooth to the doctor, because there is a version of that which involves optic atrophy. She also recently did a test for phytanic acid for the " other " version of Refsum's disease (not the leukodystrophy but the dietary). She has not yet told me the results of that one. Sorry...not gonna slap you! You are not required to memorize all of my son's lab results, but you are sweet to try!! Terri Mason wrote: > - you are right. A-T isn't associated with optic nerve > atrophy so that's probably a long shot. > > One other thing that I'm not sure of is a syndrome known as CAPOS. > It's associated with ataxia, optic atrophy, sensorineural hearing > loss > and pes cavus (I don't know what that is let alone if has it or > not!). I believe it is a mitochondrial disorder but other than that > I > don't know much about it. > > Also, what about Friedrich's Ataxia - smack me if I'm bringing up > stuff that's already been ruled out! > > And I agree with you on the labs. It seems ridiculous that they > won't > repeat the tests - especially given the relatively low cost! > > Terri > > > > > > > In a message dated 5/17/00 11:28:33 AM Pacific Daylight Time, > > > momalboe@h... writes: > > > > > > > Given 's history I would almost recommend redoing the A-T > test. > > > > > > , > > > Terri has a good point here ... you can have A-T without the > elevated AFP > > > levels ... or telangiectases of the eyes/face. One of the little > guys who > > > have A-T doesn't have the telangiectases in his eyes but has had > to go in and > > > have blood vessels cauterized in the urinary tract (massive blood > in urine > > > episodes), there are several other factors that would tip the > scale one way > > > or the other such as abnormal CEA levels, IG quantive levels, > etc. > >From what > > > I understand there is a Radiosensitivity (SP?) blood test that is > done thru > > > Dr. Gatti's office that seems to be more definitive in regard to > A-T or one > > > of it's variants. Also IF you do have the AFP test done again > make > sure the > > > lab drawing it follows the correct procedures!!!!! The following > website > > > might be helpful for you??? > > > http://www.atcp.org/diagnoat.htm > > > > > > I am sorry to hear that your doctor isn't willing to refer your > child to a > > > dermatologist!!! Is it possible to pay out of pocket for the > initial visit > > > ??? I've gone the review route and the results were that the ins. > co. said > > > that we had to " go thru all the in-network providers FIRST before > they'd even > > > consider letting us go to Ohio or Atlanta. " So we are steadily > going thru the > > > list and still saving money in case we have to pay for it > ourselves. I don't > > > know which will come first ... if the ins. covers it then we are > going to > > > have one heck of a great vacation while there that's for sure > <wink> > > > > > > Good luck and best wishes!!!! > > > Romona > > > http://members.aol.com/elf808 (I KNOW I gotta update that page > soon but > > > who has the time these days???) > > > > > > > ---------------------------------------------------------------------- > -- > > > Would you like to save big on your phone bill -- and keep on > saving > > > more each month? Join beMANY! Our huge buying group gives you > Long > Distance > > > rates which fall monthly, plus an extra $60 in FREE calls! > > > http://click./1/2567/2/_/368657/_/958591152/ > > > > ---------------------------------------------------------------------- > -- > > > > > > Brought to you by www.imdn.org - an on-line support group for > those affected by mitochondrial disease. > > ------------------------------------------------------------------------ > Need extra cash? Get the cash you need fast with a refinance or home > equity loan. Needmoney.com, a division of New Century Mortgage > Corporation is an approved Equal Housing Lender. > http://click./1/4171/2/_/368657/_/958604103/ > ------------------------------------------------------------------------ > > Brought to you by www.imdn.org - an on-line support group for those affected by mitochondrial disease. Quote Link to comment Share on other sites More sharing options...
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