Guest guest Posted July 11, 2004 Report Share Posted July 11, 2004 Hi all, have a ? to post. . . . We have been taking Chelsea to see a neuro at Shriner's Hospital for Children in Chicago for a couple of years now for a 2nd opinion. He, Dr. Silver, is not so sure what she has is mito, but definatly knows she suffers from a neurologic disorder, possibly a white matter disease from what he has seen on her MRI's (gliosis and mild atrophy). We were there on tues, the 7th, and he drew some blood and urine to run chromosome tests for Rett's and Angelman's Syndrome. He said he has seen enough atypical cases of both of these not to suspect that Chelsea could have one of these. It has been very hard to decipher exactly what tests Chelsea has had from her former neuro's med file. She did have a general chromosome test that was normal and also looked for Cornelia De Lang Syndrome. Beyond that, it is not known what other chromosomal disorders her former neuro may have looked for. I seem to remember someone on this list have Rett's and mito, but I don't remember who. I looked into Rett's for Chelsea before the mito dx, and she did fit the sx's, except for autism and hand ringing. I looked up Angleman's in my med dic when I got home and she definatly fit that. Does anyone out there have mito and a chromosomal disorder/ disease. like Rett's or Angleman's? Has anyone been misdx'd as an atypical case of either of these syndromes only to end up with a mito dx? Is there a possibility she could have both? e, Chelsea's mom(nonspecific mito) Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 11, 2004 Report Share Posted July 11, 2004 > e, Chelsea's mom(nonspecific mito), I remember reading somewhere (I think UMDF) that some children with Retts have mito or vise versa! I will try to find the info and let you know! Dawn Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 11, 2004 Report Share Posted July 11, 2004 HI, We have a family in our Virginia support group that have a daughter who is suspected of having either mito or Rett's Syndrome. At s Hopkins Dr. Sakura Naidu is doing s study on Rett's. You might be able to get in the protocol. Shelby > Hi all, have a ? to post. . . . We have been taking Chelsea to see a > neuro at Shriner's Hospital for Children in Chicago for a couple of > years now for a 2nd opinion. He, Dr. Silver, is not so sure what she > has is mito, but definatly knows she suffers from a neurologic > disorder, possibly a white matter disease from what he has seen on her > MRI's (gliosis and mild atrophy). > We were there on tues, the 7th, and he drew some blood and urine to > run chromosome tests for Rett's and Angelman's Syndrome. He said he > has seen enough atypical cases of both of these not to suspect that > Chelsea could have one of these. It has been very hard to decipher > exactly what tests Chelsea has had from her former neuro's med file. > She did have a general chromosome test that was normal and also looked > for Cornelia De Lang Syndrome. Beyond that, it is not known what other > chromosomal disorders her former neuro may have looked for. > I seem to remember someone on this list have Rett's and mito, but I > don't remember who. I looked into Rett's for Chelsea before the mito > dx, and she did fit the sx's, except for autism and hand ringing. I > looked up Angleman's in my med dic when I got home and she definatly > fit that. > Does anyone out there have mito and a chromosomal disorder/ disease. > like Rett's or Angleman's? Has anyone been misdx'd as an atypical case > of either of these syndromes only to end up with a mito dx? Is there a > possibility she could have both? > > e, Chelsea's mom(nonspecific mito) > > > > Please contact mito-owner with any problems or > questions. > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 11, 2004 Report Share Posted July 11, 2004 Dear e, I can only share my experience with you. To be honest with you, when I read your post, it brought a huge anxiety feeling in me. The reason is that I never heard of mito or angelman syndrome until my daughter Samya got very sick 2 months before she died. The doctors could not diagnose her as she was having very serious symptoms and deteriorating very quickly. WE knew she had a disease but the mystery was looking for it in her 8 years. She started ataxia after an illness, developed loss of bladder control, dementia etc. She was misdiagnosed with Guillian Barre ( a very stupid “way off” diagnosis”. The neurologist would not listen to us when we insisted she could not have Guillian Barre. From all the research I did on Guillian Barre, Samya did not one bit fit this diagnosis. I started doing research on my own, hoping to find her diseasw during the weeks she was home deteriorating. Unfortunately, I never ever cam across the word”mitochondrial disease” Of course, murphy’s law, right? I specifically recall being convinced she had angelman syndrome. She seemed to fit it so well. When I told the neurologist, she said “no way, she did not have it”. To be honest, she did not give me a satisfactory reason for ruling it out. She was the same neurologist that said she had Guillian Barre. If you ask me, angelma syndrome made much more sense to me. Of course, I was somewhat relieved when she said no because angelman syndrome sounded horrible at the time. Everything is relative because I had no idea that the real diagnosis of mito was much worse. I was so naïve. I just remember going through many , many diseases and when I read angelman syndrome, it fit so well. Of course, now that we know she had mito, that also made perfect sense. I hope this babbling helped. I was just shocked because this is only the second time I hear mention of this disease. Suhad Haddad -- Mom to Samya (Died 12-10-02 of Leigh's Synd.) & Leanna with same disease. Samya's Memorial Site: www.Samya.org Email: Suhad1970@... Alt Email: Suhad@... AiM Chat: Suhad1970 From: jayvelde@... Sent: Sunday, July 11, 2004 1:37 PM To: Mito Subject: Mito and. . . . .. Hi all, have a ? to post. . . . We have been taking Chelsea to see a neuro at Shriner's Hospital for Children in Chicago for a couple of years now for a 2nd opinion. He, Dr. Silver, is not so sure what she has is mito, but definatly knows she suffers from a neurologic disorder, possibly a white matter disease from what he has seen on her MRI's (gliosis and mild atrophy). We were there on tues, the 7th, and he drew some blood and urine to run chromosome tests for Rett's and Angelman's Syndrome. He said he has seen enough atypical cases of both of these not to suspect that Chelsea could have one of these. It has been very hard to decipher exactly what tests Chelsea has had from her former neuro's med file. She did have a general chromosome test that was normal and also looked for Cornelia De Lang Syndrome. Beyond that, it is not known what other chromosomal disorders her former neuro may have looked for. I seem to remember someone on this list have Rett's and mito, but I don't remember who. I looked into Rett's for Chelsea before the mito dx, and she did fit the sx's, except for autism and hand ringing. I looked up Angleman's in my med dic when I got home and she definatly fit that. Does anyone out there have mito and a chromosomal disorder/ disease. like Rett's or Angleman's? Has anyone been misdx'd as an atypical case of either of these syndromes only to end up with a mito dx? Is there a possibility she could have both? e, Chelsea's mom(nonspecific mito) Please contact mito-owner with any problems or questions. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 12, 2004 Report Share Posted July 12, 2004 e... I can't recall in my 2.5 years on this list a Rhetts-Mito combo, but I know a lot of people have mentioned Rhetts. The reason it may seem familiar is that I know many people have talked about being tested for it before mito. I know Shoffner does the test on EVERY patient boy or girl and I know I discussed this on the list after we got back. He also tests for anglemans and prader-willi. I have read and heard quite a bit of dual diagnosis of Luekodystrophies and of course, FODs. If you get a copy of the united leukodystrophy foundation's newsletter, Mito is mentioned all over it...they firmly believe the two are linked. I have no idea why the UMDF doesn't advertise this possibility. I am surprised they are not testing for this too. For some reason drs dont' think of this too often I guess. The definition of the word leukodystrophy means white disease...for white matter issues. also had white matter changes and atrophy on his last MRI. I really feel like he had MITO and a LEUKO because his case was so rapid. Did you ever see lorenzo's oil? He had a leuko, but there a quite a few of them. I do know of several families that have the dual mito-leuko diagnosis and even more families that have the mito-fod diagnosis. I would go to the Leukodystrophy website and do some looking around. www.ulf.org deb...mom to three great kids and wife to one amazing guy!http://www.lifeofloveproject.org/http://www.heartliftersgallery.com/ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 12, 2004 Report Share Posted July 12, 2004 What are FODs? sorry...Fatty Oxidation Disorders. deb...mom to three great kids and wife to one amazing guy!http://www.lifeofloveproject.org/http://www.heartliftersgallery.com/ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 12, 2004 Report Share Posted July 12, 2004 What are FODs? Shelby > e... > > I can't recall in my 2.5 years on this list a Rhetts-Mito combo, but I > know a lot of people have mentioned Rhetts. The reason it may seem > familiar is that I know many people have talked about being tested for > it before mito. I know Shoffner does the test on EVERY patient boy or > girl and I know I discussed this on the list after we got back. He > also tests for anglemans and prader-willi. > > I have read and heard quite a bit of dual diagnosis of > Luekodystrophies and of course, FODs. If you get a copy of the united > leukodystrophy foundation's newsletter, Mito is mentioned all over > it...they firmly believe the two are linked. I have no idea why the > UMDF doesn't advertise this possibility. > > I am surprised they are not testing for this too. For some reason drs > dont' think of this too often I guess. The definition of the word > leukodystrophy means white disease...for white matter issues. > also had white matter changes and atrophy on his last MRI. I really > feel like he had MITO and a LEUKO because his case was so rapid. Did > you ever see lorenzo's oil? He had a leuko, but there a quite a few > of them. > > I do know of several families that have the dual mito-leuko diagnosis > and even more families that have the mito-fod diagnosis. > > I would go to the Leukodystrophy website and do some looking around. > www.ulf.org > > deb...mom to three great kids and wife to one amazing guy! > http://www.lifeofloveproject.org/ > http://www.heartliftersgallery.com/ > > > Please contact mito-owner with any problems or > questions. > > > > > Quote Link to comment Share on other sites More sharing options...
Recommended Posts
Join the conversation
You are posting as a guest. If you have an account, sign in now to post with your account.
Note: Your post will require moderator approval before it will be visible.