Guest guest Posted March 13, 2001 Report Share Posted March 13, 2001 Hi All; My son and I are also the only ones in our family with CMT. As far as my Father and his family, we are unsure. We have not heard nor seen him for over 13 years. At first my friends would ask me, why I don't look him up and investigate his family's history. My reply was if it would cure or help us in any way; I would. With this disease, I believe the present and future is what is important. Lee _________________________________________________________________________ Get Your Private, Free E-mail from MSN Hotmail at http://www.hotmail.com. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 16, 2001 Report Share Posted March 16, 2001 Hi it's me Carolyn Iam back and i would really like to have genetic testing done except the findings may go against for future insurances. is being fitted with his ankle supports on tuesday he is thrilled[not] -take care CAROLYN-- Gretchen Glick <liliwigg@...> wrote: <HR> <html><body> <tt> I am the only person in my family, anywhere, past and present who has<BR> CMT. I was diagnosed along time ago before genetic testing and my docs<BR> think it is pointless now. And that is OK with me. ~ G<BR> </tt> <br> <!-- |**|begin egp html banner|**| --> <table border=0 cellspacing=0 cellpadding=2> <tr bgcolor=#FFFFCC> <td align=center><font size= " -1 " color=#003399><b> Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 11, 2004 Report Share Posted October 11, 2004 Hi Liz, I'm not sure about whether you can or not get genetic testing in Australia. However, Dr Shelling in Auckland is carrying out BPES genetic testing. a.shelling@... All the best, --- lizzy72mal <lizzy72mal@...> wrote: > > > Hi, > > My son and husband have BPES and we live in > Australia. I understand > that genetic testing to determine if they have > Type 1 or 2 is > available in New Zealand but not in Australia. > Could someone > possibly give me the contact details where the > genetic testing can > be undertaken in New Zealand. > > Thanks. > > Liz > > > > > > > Find local movie times and trailers on Movies. http://au.movies. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 11, 2004 Report Share Posted October 11, 2004 I have BPES and so does my two month old daughter and my father. What are the benefits of getting genetic testing? thank you Beth Fairbairn <andreajoyf@...> wrote: Hi Liz,I'm not sure about whether you can or not getgenetic testing in Australia. However, Dr Shelling in Auckland is carrying out BPES genetictesting.a.shelling@...All the best, --- lizzy72mal <lizzy72mal@...> wrote: > > > Hi,> > My son and husband have BPES and we live in> Australia. I understand > that genetic testing to determine if they have> Type 1 or 2 is > available in New Zealand but not in Australia. > Could someone > possibly give me the contact details where the> genetic testing can > be undertaken in New Zealand.> > Thanks.> > Liz> > > > > > > Find local movie times and trailers on Movies.http://au.movies. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 14, 2004 Report Share Posted October 14, 2004 Hello Liz, welcome to rhe group. We live in NZ & there is a Dr Komudi Siriwardena in Auckland who is the geneticist that my daughter , aged 18yrs, will see in a few weeks time. Her & I are the only ones in our family with BPES. Its good to have as much information as you can before going to the geneticist, regarding other family members who are affected eg. aunts, uncles, grandies etc. Now, I`m not sure what part of Oz you are, but there is a Dr Mackey at the Eye & Ear Hospital in Melbourne & a Dr Craig in Adelaide who could help point you in the right direction. Hope this is helpful Keep in touch Maree -- In blepharophimosis , " lizzy72mal " <lizzy72mal@y...> wrote: > > > Hi, > > My son and husband have BPES and we live in Australia. I understand > that genetic testing to determine if they have Type 1 or 2 is > available in New Zealand but not in Australia. Could someone > possibly give me the contact details where the genetic testing can > be undertaken in New Zealand. > > Thanks. > > Liz Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 22, 2005 Report Share Posted January 22, 2005 My husband Jim just got his results from the Athena testing: PMP22 duplication/deletion " inconclusive. " The 9 sequencing tests were all " no sequence alteration " or negative. Has anyone else had an inconclusive test? Did repeating the test change the result? It won't make any difference to him, but one of our sons is considering starting a family. Five or so years ago he had at test for one or two genes when we were going to MDA at UCLA [we now go to Santa Barbara], but I don't know which gene(s), and we were told the tests were negative. Elinor Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 25, 2005 Report Share Posted January 25, 2005 Elinor, I had DNA tests done through Athena. Only results was that it wasn't CIDP. After spinal tap, doctor said it is CMT 2 and that the only thing they can do is help me manage it. Meanwhile, I'm exercising regularly and using nutritional products. I've had three different diagnoses from three different doctors. I'm thinking about seeing another doctor SO I can get ANOTHER diagnosis. <grin> Frustrating, isn't it? Carl Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 25, 2005 Report Share Posted January 25, 2005 I know how you feel! My blood test did not show anything also and now they are thinking mine is SMA after 20 years being told CMT. I guess that is what technology does (LOL) Jackie Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 22, 2005 Report Share Posted February 22, 2005 Beth, I'm not sure about your question about the testing, but give you my opinion based on my experience with BPES as far as having another child with BPES. My grandfather has BPES and his first son, my father, had it as well. His second son did not have it. I am was the first born in my family and i have, but my brother doesn't. My first born has it, but my 2nd doesn't, and my 3rd has it. I just know that there is a 50/50 chance of passing it down. It surely didn't interfere with my decisions to have children though. No matter if they had it or not i knew i wanted more than one child. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 23, 2005 Report Share Posted February 23, 2005 Thank you for your message, I know I want another child but probably right now it is too soon for me to really make a decision, we are in the middle of too much stress. We had an unusually difficult time with Lily's surgeries due to the infection she got, I look at her now and I think if the surgery had been successful the first time, she would have been fine and we wouldn't have gone through so much pain for her first six months, but for whatever reason, it turned out that way. What matters now is that she can see everything and she is such a wonderful little baby. I admire you for not being as afraid as I am. You probably don't think it's any big deal but to me your are brave. thank you again Beth > > Beth, > > I'm not sure about your question about the testing, but give you my opinion based on my experience with BPES as far as having another child with BPES. My grandfather has BPES and his first son, my father, had it as well. His second son did not have it. I am was the first born in my family and i have, but my brother doesn't. My first born has it, but my 2nd doesn't, and my 3rd has it. I just know that there is a 50/50 chance of passing it down. It surely didn't interfere with my decisions to have children though. No matter if they had it or not i knew i wanted more than one child. > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 24, 2005 Report Share Posted February 24, 2005 Hi I dont know past my Father in Law ..but he had it, my husbands oldest brother and sister do not ...my husband the last has it, my two sons have it ...and I am Due June 9th with #3 a little girl!!!!!! praying she does not...but it is a 50/50 chance...I dont think dealing with this has been extremly difficult for us. We have a great team of doctors and surgeons and my kids have no other problems at all. I look at it this way ....so many kids have something worse...maybe I am just trying to make myself feel bett, . I don;t know . I knew we wanted another and would deal with what God has in store for us...and i am not a very religios person either. But it is out of my hands. Sharon Feichtner <mfeichtner@...> wrote: Beth, I'm not sure about your question about the testing, but give you my opinion based on my experience with BPES as far as having another child with BPES. My grandfather has BPES and his first son, my father, had it as well. His second son did not have it. I am was the first born in my family and i have, but my brother doesn't. My first born has it, but my 2nd doesn't, and my 3rd has it. I just know that there is a 50/50 chance of passing it down. It surely didn't interfere with my decisions to have children though. No matter if they had it or not i knew i wanted more than one child. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 23, 2006 Report Share Posted March 23, 2006 I wanted to add something regarding IVF - preimplantation diagnosis is different than a standard screening done during IVF. This is how it would work in someone who either has BPES or whose spouse has it. The spouse would be tested, If the mutation is located, then during the IVF process, before implantation, cells are removed and tested for THAT SAME MUTATION FOUND IN THE SPOUSE. I asked Dr. Rosenbaum if anyone else with BPES that he sees, has used this technology. He said no, not yet, but other families with other types of genetic disorders are doing it. It's only been recently it was offered. He said it's not 100% that the mutation can be found for BPES, which I think people on this board have already covered. I am not advocating this procedure, but I want to explain it so if you are considering this, you know what to ask for. Just because someone hasn't done it before doesn't mean it can't be done, you just have to find the right people and ask the right questions. I have learned this the hard way.... There were so many things I didn't know about BPES, so much my parents didn't know. It's not such a bad thing to know what the options are and make choices. > > > > Hi to everyone, > > My appointment was interesting yesterday. I was very surprised > > about the level of knowledge the doctor had about BPES. Although, > > she advised the best way to discover whether POF is prevalent would > > be via fertility specialists and not through discovering whether > > type 1 or 2 BPES. I thought this would be conclusive but > apparently > > not. I asked about screening of embryos through IVF but this is > not > > an option yet and she thinks this will not be available for another > > 40 years, only life limiting sydromes are screened for. The doctor > > mentioned about pre-natal screening but I was horrified to hear > this > > advice. My view is that if you are going through IVF and embryos > > are screened that's one thing but to have a pre-natal to make this > > choice is a whole different decision which I don't believe should > be > > offered. > > > > The doctor took some blood anyway but no genetic testing for type 1 > > or 2 is available in the UK and needs to be sent to france or > > belgium and I was advised results can take up to a year so I will > > definately be concentrating on fertility advice and not holding out > > for the genetic results. If I am able to have a child I would like > > this result as whatever type I am, I understand my child will be. > > > > so the uncertain time for me continues but I will continue reading > > the facinating discussions which is a strength to me at this time. > > Thankyou to those who posted kind words and those involved in > > discussions. I think I may have started quite a healthy > > discussion. > > > > To Bryony (new member) I can emphasize with you, some feelings > about > > POF which I am not sure whether I am at risk from POF or not. I > > have experienced hot flushes but I have also recently come off the > > pill and unsure whether this is a hormonal side effect to this but > I > > am very hypersensitive to everything at present. I hope you find > > this site of use to you as I certainly so. Take care, D > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 29, 2008 Report Share Posted March 29, 2008 After following the thread about diagnosis, I thought I'd mention that I found a lab in Denver, CO which does cheek swab testing, Kimball Genetics. Here's the link to their celiac gene test: http://www.kimballgenetics.com/tests-celiacdisease.html. It includes an explanation of the genes under test. I called them and they sent me 2 test kids free of charge, and gave me the codes used for insurance purposes so we could check (our plan does cover them, it turns out). They quoted me $395 if they were to bill our insurance directly, or 10% less if we pay them directly and then submit for insurance ourselves. This is a much better price than I had expected, and our gastro was also surprised at the low price. Have any of you used this lab? Just FYI (but probably you all know already), this test will only tell you if you are susceptible to CD, not whether you actually have it. In our case, we want to know for our younger daughter who currently does not have CD. If she's not carrying one of those gene alleles, then we can stop testing her blood in the future. If we don't get gene information for her then our gastro recommends that she get a blood test about every 2 years or whenever she displays symptoms. And of course if she has the genes, then she'll still need regular blood tests anyway, but there's about a 50% chance she doesn't have them. My husband and I are also interested for ourselves, since it's highly likely that one of us carries the genes (there aren't many spontaneous gene mutations in these gene locations, so our daughter almost certainly inherited them from one of us), although neither of us currently has CD either. Only our 9-yr old daughter does, and she's a text-book case (off the charts blood test followed by a highly definitive biopsy of the duodenum.). Best, Quote Link to comment Share on other sites More sharing options...
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