Guest guest Posted July 2, 2004 Report Share Posted July 2, 2004 Welcome to the group. Within each cell (not sperm or red blood cells) are many little jelly bean shaped mitochondria. The fuel which is the result of what you have eaten finds it way into the mitochondria and produces cellular energy. The defect can be in the DNA of the mitochondria or the nuclear DNA that is somewhere near the middle of the cell. The mtDNA is a much smaller chain and easier to test at this point. It depends on the type of mito you might have and how they do the muscle biopsy to get answers. I had 4-5 biopsies that were frozen and basically only microscope workups were done. These were all negative. I had to have a fresh biopsy where some of the tests are done immediately, before you are even off the operating table. I don't know if you have had blood work or not to test for the known nDNA defects. There are also some lab work that can be done to see if things are off metabolically. This can tell them if it looks more like mito. The only way to determine if your girls have it is through genetic testing. If it is in the mtDNA, then they will carry the gene, but might not ever have symptoms, or not until much older. It is sometimes due to toxins but more often than not, it is genetic. It is progressive but a few are lucky and do improve before having it progress. My younger son is like this. If you have it and it is genetic, then you have had it since birth, but with more good mitochondria, so there were no symptoms. It took me a bit over 1.5 years to get the results that I have mito and then almost another two years before my DNA testing was finished. They were unable to find the gene that was defective. Most people get their initial reports back much sooner. There are only a few centers that do the fresh biopsies, but not everyone has to have a fresh one to get answers. You sound like the point I was at when I started using a scooter outside the house. I still walk indoors, but it is from one seat to another. I use a stool to cook or wash dishes. I am still able to work with my wheelchair and a van to transport it and a computer for some of the written work. I hope this gives you some answers. We are all very different from one another, even within the same family. laurie > > Reply-To: > Date: Fri, 02 Jul 2004 16:02:58 -0000 > To: > Subject: Possible mitochondria > > I posted yesterday but for some reason my post did not come up so I > am posting this again. I am a 32 year old female who has had various > neurological symptoms for the past 1 1/2 years. I have > weakness,extreme fatigue, double vision, blurred vision, balance > problems, bladder problems, swallowing problems, cognitive thinking > and memory problems. I was seeing a neurologist who performed a lot > of test that have come back negative except for a neuropsych eval > showed right hemisphere dysfunction, swallowing test showed I am > aspirating and a bladder test that showed my bladder not holding much > urine. I have difficulty breathing now, shortness of breath, > coughing when I can't get my breath. I am seeing a pulmonary (lung) > specialist on the 15th. > > so anyway I switched neuros and they are looking into a possible > mitochondria disease. I have to have a eeg done on the 26th of this > month and am going for a consultation on the 29th of this month for a > muscle biopsy. I have been in the hospital for 2 weeks with an > episode of extreme weakness, they thought I had a stroke, than a > bunch of other stuff which was ruled out. Just thought I would give > a little history, sorry so long, I am wondering a few things, what > exactly is mitochondria, It is really confusing me, is it something I > have always had ?genetic? Is it hereditary? > > If I do have this who treats this/ and are there any treatments, I > have looked on the internet which I know I shouldn't do but it is > really confusing trying to read, my vision isn't great either. How > long does it take after the muscle biopsy to find out if I have this? > I really want to know if I could have passed this on to my 2 little > girls. > If I do have this is it progressive? I am assuming it is because > whatever I have its progressing. Will I become disabled more than I > am right now, I can't walk far at all without being exhausted. I know > I am jumping the gun on this but what other possibilities are there. > there has to be reasons for my symptoms. > Growing up I was very short, took hormone shots to grow and to reach > puberty, I don't get my periods, took fertility shots to get pregnant > and am also hard of hearing, wear a hearing aid. > Thanks for reading this, sorry so long > > > > > > Medical advice, information, opinions, data and statements contained herein > are not necessarily those of the list moderators. The author of this e mail is > entirely responsible for its content. List members are reminded of their > responsibility to evaluate the content of the postings and consult with their > physicians regarding changes in their own treatment. > > Personal attacks are not permitted on the list and anyone who sends one is > automatically moderated or removed depending on the severity of the attack. > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 2, 2004 Report Share Posted July 2, 2004 , Welcome to our group. Sorry you are having problems, but if you are exploring the possiblity of a mitochondrial disorder - you're in the right place. I'm going to let some of the " more experienced " answer most of your questions -- as there are several here who could explain much better than I can. I have many of the same symptoms that you do - with breathing problems being one of the most significant for me. I'll be getting a biopsy soon, but I've learned that with mito - nothing happens quickly. The results of the test could take months - although there are usually preliminary findings within a couple of weeks. Some of the genetic tests could take a year or more. Just wanted to say that contrary to what many doctors will tell you - - it's very acceptable to do your own research on the internet or otherwise for this disease. You're probably going to find the most resources are right at your fingertips. Unfortunately, not a lot of doctors understand mitochondrial diseases - so it really helps to gather as much information as you can, so that together with a good doctor you can find a treatment that will help. This group is a great place to start. We don't have all the answers - but many times someone can point you in the right direction. Maggie > I posted yesterday but for some reason my post did not come up so I > am posting this again. I am a 32 year old female who has had various > neurological symptoms for the past 1 1/2 years. I have > weakness,extreme fatigue, double vision, blurred vision, balance > problems, bladder problems, swallowing problems, cognitive thinking > and memory problems. I was seeing a neurologist who performed a lot > of test that have come back negative except for a neuropsych eval > showed right hemisphere dysfunction, swallowing test showed I am > aspirating and a bladder test that showed my bladder not holding much > urine. I have difficulty breathing now, shortness of breath, > coughing when I can't get my breath. I am seeing a pulmonary (lung) > specialist on the 15th. > > so anyway I switched neuros and they are looking into a possible > mitochondria disease. I have to have a eeg done on the 26th of this > month and am going for a consultation on the 29th of this month for a > muscle biopsy. I have been in the hospital for 2 weeks with an > episode of extreme weakness, they thought I had a stroke, than a > bunch of other stuff which was ruled out. Just thought I would give > a little history, sorry so long, I am wondering a few things, what > exactly is mitochondria, It is really confusing me, is it something I > have always had ?genetic? Is it hereditary? > > If I do have this who treats this/ and are there any treatments, I > have looked on the internet which I know I shouldn't do but it is > really confusing trying to read, my vision isn't great either. How > long does it take after the muscle biopsy to find out if I have this? > I really want to know if I could have passed this on to my 2 little > girls. > If I do have this is it progressive? I am assuming it is because > whatever I have its progressing. Will I become disabled more than I > am right now, I can't walk far at all without being exhausted. I know > I am jumping the gun on this but what other possibilities are there. > there has to be reasons for my symptoms. > Growing up I was very short, took hormone shots to grow and to reach > puberty, I don't get my periods, took fertility shots to get pregnant > and am also hard of hearing, wear a hearing aid. > Thanks for reading this, sorry so long > Quote Link to comment Share on other sites More sharing options...
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