Guest guest Posted July 13, 2000 Report Share Posted July 13, 2000 In a message dated 7/13/2000 7:09:38 AM Pacific Daylight Time, cincin1mom@... writes: << Has anyone had the gene test done? I just cant seem to stop crying. I feel like I am in shock and they tell me it will be 6-8 weeks before the test results are back. >> Dear Cindi, So sorry to hear about the latest tests that are taking place. By the gene test, do you mean that they are testing the chromosomes? I assume this. Our whole family has gone through chromosome testing, due to the fact that when Kayla was 9 months old, the doctors were unable to classify her as having any certain syndrome. She was tested and determined to have a deletion of her # 2 chromosome, and an addition to her # 11. The end results were that I, Kayla's grandmother, was determined to be a balanced translocation carrier of the numbers 2 and 11. I passed this on to 2 of my 3 children, who in turn passed it on to their children. So the final results were that I have Kayla with a 2q deletion, Luke and Noah with the 11q deletion and Caleb who is a balanced translocation carrier. I don't know if this is going to shed any light on your situation, but I wanted to respond to your post. Take care and God bless !!!!!!!!!!!! Beth Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 13, 2000 Report Share Posted July 13, 2000 In a message dated 7/13/2000 7:09:38 AM Pacific Daylight Time, cincin1mom@... writes: << Has anyone had the gene test done? I just cant seem to stop crying. I feel like I am in shock and they tell me it will be 6-8 weeks before the test results are back. >> Dear Cindi, So sorry to hear about the latest tests that are taking place. By the gene test, do you mean that they are testing the chromosomes? I assume this. Our whole family has gone through chromosome testing, due to the fact that when Kayla was 9 months old, the doctors were unable to classify her as having any certain syndrome. She was tested and determined to have a deletion of her # 2 chromosome, and an addition to her # 11. The end results were that I, Kayla's grandmother, was determined to be a balanced translocation carrier of the numbers 2 and 11. I passed this on to 2 of my 3 children, who in turn passed it on to their children. So the final results were that I have Kayla with a 2q deletion, Luke and Noah with the 11q deletion and Caleb who is a balanced translocation carrier. I don't know if this is going to shed any light on your situation, but I wanted to respond to your post. Take care and God bless !!!!!!!!!!!! Beth Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 13, 2000 Report Share Posted July 13, 2000 Cindi I went to a mannatech meeting, and met a few parents of kids with this syndrome. They say ambrotose helped them. Email me private if that is interesting to you. Kathy rett syndrome >> >> >> >Hi everyone, it has been a really bad couple of days here. Had a >> >neurology appt. at hopkins and they are reasonably sure that Allie >> has >> >rett syndrome. I am feeling quite devastated. We had the blood draw >> for >> >the gene test done and I am really praying that it comes back neg. >> Has >> >anyone else done the rett gene test after already having an autism >> >diagnosis? Allie is 11, and I would have thought this would have >> been >> >ruled out already, but the doc says she is showing classic signs and >> >from the little bits of research I have been able to find, she >> >definately shows most of the signs. Anyone else been through this? >> Has >> >anyone had the gene test done? I just cant seem to stop crying. I >> feel >> >like I am in shock and they tell me it will be 6-8 weeks before the >> >test results are back. >> >Also if anyone has any info on retts I would really appreciate it if >> >you could forward it to me. I cant seem to find much, might be my >> >fault, as I cant seem to pull myself together very well. >> >cindi >> > >> >__________________________________________________ >> > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 13, 2000 Report Share Posted July 13, 2000 Cindi I went to a mannatech meeting, and met a few parents of kids with this syndrome. They say ambrotose helped them. Email me private if that is interesting to you. Kathy rett syndrome >> >> >> >Hi everyone, it has been a really bad couple of days here. Had a >> >neurology appt. at hopkins and they are reasonably sure that Allie >> has >> >rett syndrome. I am feeling quite devastated. We had the blood draw >> for >> >the gene test done and I am really praying that it comes back neg. >> Has >> >anyone else done the rett gene test after already having an autism >> >diagnosis? Allie is 11, and I would have thought this would have >> been >> >ruled out already, but the doc says she is showing classic signs and >> >from the little bits of research I have been able to find, she >> >definately shows most of the signs. Anyone else been through this? >> Has >> >anyone had the gene test done? I just cant seem to stop crying. I >> feel >> >like I am in shock and they tell me it will be 6-8 weeks before the >> >test results are back. >> >Also if anyone has any info on retts I would really appreciate it if >> >you could forward it to me. I cant seem to find much, might be my >> >fault, as I cant seem to pull myself together very well. >> >cindi >> > >> >__________________________________________________ >> > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 13, 2000 Report Share Posted July 13, 2000 Cindi I went to a mannatech meeting, and met a few parents of kids with this syndrome. They say ambrotose helped them. Email me private if that is interesting to you. Kathy rett syndrome >> >> >> >Hi everyone, it has been a really bad couple of days here. Had a >> >neurology appt. at hopkins and they are reasonably sure that Allie >> has >> >rett syndrome. I am feeling quite devastated. We had the blood draw >> for >> >the gene test done and I am really praying that it comes back neg. >> Has >> >anyone else done the rett gene test after already having an autism >> >diagnosis? Allie is 11, and I would have thought this would have >> been >> >ruled out already, but the doc says she is showing classic signs and >> >from the little bits of research I have been able to find, she >> >definately shows most of the signs. Anyone else been through this? >> Has >> >anyone had the gene test done? I just cant seem to stop crying. I >> feel >> >like I am in shock and they tell me it will be 6-8 weeks before the >> >test results are back. >> >Also if anyone has any info on retts I would really appreciate it if >> >you could forward it to me. I cant seem to find much, might be my >> >fault, as I cant seem to pull myself together very well. >> >cindi >> > >> >__________________________________________________ >> > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 13, 2000 Report Share Posted July 13, 2000 Dear , you really have a hard last few days ! I read your post this morning but I haven't been able to get back to you until now. I personally don't know much about rett syndrome, so I thought I'd see what I could find out for you. you most likely know more than I do but I found a site you might be interested in. it offers information and email list, bulletin boards and discussions. the address is Http://www.healthlinkusa.com I found it by going to the search engine and putting in rett syndrome. I think I'm going to check it out more too. it never hurts to learn. I am very sorry that your daughter and family are going through this! I hope it all comes out alot better than anyone expects. If I come up with more sites I'll let you know. love t cindi dressler wrote: > Hi everyone, it has been a really bad couple of days here. Had a > neurology appt. at hopkins and they are reasonably sure that Allie has > rett syndrome. I am feeling quite devastated. We had the blood draw for > the gene test done and I am really praying that it comes back neg. Has > anyone else done the rett gene test after already having an autism > diagnosis? Allie is 11, and I would have thought this would have been > ruled out already, but the doc says she is showing classic signs and > from the little bits of research I have been able to find, she > definately shows most of the signs. Anyone else been through this? Has > anyone had the gene test done? I just cant seem to stop crying. I feel > like I am in shock and they tell me it will be 6-8 weeks before the > test results are back. > Also if anyone has any info on retts I would really appreciate it if > you could forward it to me. I cant seem to find much, might be my > fault, as I cant seem to pull myself together very well. > cindi > > __________________________________________________ > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 13, 2000 Report Share Posted July 13, 2000 Dear , you really have a hard last few days ! I read your post this morning but I haven't been able to get back to you until now. I personally don't know much about rett syndrome, so I thought I'd see what I could find out for you. you most likely know more than I do but I found a site you might be interested in. it offers information and email list, bulletin boards and discussions. the address is Http://www.healthlinkusa.com I found it by going to the search engine and putting in rett syndrome. I think I'm going to check it out more too. it never hurts to learn. I am very sorry that your daughter and family are going through this! I hope it all comes out alot better than anyone expects. If I come up with more sites I'll let you know. love t cindi dressler wrote: > Hi everyone, it has been a really bad couple of days here. Had a > neurology appt. at hopkins and they are reasonably sure that Allie has > rett syndrome. I am feeling quite devastated. We had the blood draw for > the gene test done and I am really praying that it comes back neg. Has > anyone else done the rett gene test after already having an autism > diagnosis? Allie is 11, and I would have thought this would have been > ruled out already, but the doc says she is showing classic signs and > from the little bits of research I have been able to find, she > definately shows most of the signs. Anyone else been through this? Has > anyone had the gene test done? I just cant seem to stop crying. I feel > like I am in shock and they tell me it will be 6-8 weeks before the > test results are back. > Also if anyone has any info on retts I would really appreciate it if > you could forward it to me. I cant seem to find much, might be my > fault, as I cant seem to pull myself together very well. > cindi > > __________________________________________________ > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 13, 2000 Report Share Posted July 13, 2000 Dear , you really have a hard last few days ! I read your post this morning but I haven't been able to get back to you until now. I personally don't know much about rett syndrome, so I thought I'd see what I could find out for you. you most likely know more than I do but I found a site you might be interested in. it offers information and email list, bulletin boards and discussions. the address is Http://www.healthlinkusa.com I found it by going to the search engine and putting in rett syndrome. I think I'm going to check it out more too. it never hurts to learn. I am very sorry that your daughter and family are going through this! I hope it all comes out alot better than anyone expects. If I come up with more sites I'll let you know. love t cindi dressler wrote: > Hi everyone, it has been a really bad couple of days here. Had a > neurology appt. at hopkins and they are reasonably sure that Allie has > rett syndrome. I am feeling quite devastated. We had the blood draw for > the gene test done and I am really praying that it comes back neg. Has > anyone else done the rett gene test after already having an autism > diagnosis? Allie is 11, and I would have thought this would have been > ruled out already, but the doc says she is showing classic signs and > from the little bits of research I have been able to find, she > definately shows most of the signs. Anyone else been through this? Has > anyone had the gene test done? I just cant seem to stop crying. I feel > like I am in shock and they tell me it will be 6-8 weeks before the > test results are back. > Also if anyone has any info on retts I would really appreciate it if > you could forward it to me. I cant seem to find much, might be my > fault, as I cant seem to pull myself together very well. > cindi > > __________________________________________________ > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 13, 2000 Report Share Posted July 13, 2000 Dear Cindi, I feel for you at this present time. I have TWO girls who haveRett syndrome, aged 8 and aged 6.We live in the UK, Rett syndrome is an Autistic Spectrum Disorder, so some girls diagnosed as Autistic may have Rett.!!! What have made the doctors think your daughter has Rett and not Autism. Does she have seizures, scoliosis, hand wringing, small head circumference, loss of skills,etc..???? we have had the blood test done and are still waiting for the results, but there is no doubt our girls have Rett. Just a word of warning, even if your daughters blood test comes back negative ,it doesn't necessarily mean she does not have RS. Rett is a disorder confirmed only by diagnositc criteria until all mutations have been discovered .This may take years and years. At the moment only one mutation has been identified so until all the mutations are found there is not one conclusive test...I AM SORRY. Iti s completly understandalbe to be in shock , as we were for months, but now am coming out of it...there is a very good Rett site..... ''IRSA...'''.its great and there are email listing groups such as Rettnet or clubrett, very much like ''Autism in girls...'' I expect you are aware that Rett only affects girls Now some encouraging news.... both my girls now walk, they have some hand fucntion, they are learning to do sign language, ( their own version)neitheor f them have expressive speech ,buyt do communicate thru gestures andbody language. please feel free to email me Mandy UK... and with RS rett syndrome > Hi everyone, it has been a really bad couple of days here. Had a > neurology appt. at hopkins and they are reasonably sure that Allie has > rett syndrome. I am feeling quite devastated. We had the blood draw for > the gene test done and I am really praying that it comes back neg. Has > anyone else done the rett gene test after already having an autism > diagnosis? Allie is 11, and I would have thought this would have been > ruled out already, but the doc says she is showing classic signs and > from the little bits of research I have been able to find, she > definately shows most of the signs. Anyone else been through this? Has > anyone had the gene test done? I just cant seem to stop crying. I feel > like I am in shock and they tell me it will be 6-8 weeks before the > test results are back. > Also if anyone has any info on retts I would really appreciate it if > you could forward it to me. I cant seem to find much, might be my > fault, as I cant seem to pull myself together very well. > cindi > > __________________________________________________ > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 13, 2000 Report Share Posted July 13, 2000 Dear Cindi, I feel for you at this present time. I have TWO girls who haveRett syndrome, aged 8 and aged 6.We live in the UK, Rett syndrome is an Autistic Spectrum Disorder, so some girls diagnosed as Autistic may have Rett.!!! What have made the doctors think your daughter has Rett and not Autism. Does she have seizures, scoliosis, hand wringing, small head circumference, loss of skills,etc..???? we have had the blood test done and are still waiting for the results, but there is no doubt our girls have Rett. Just a word of warning, even if your daughters blood test comes back negative ,it doesn't necessarily mean she does not have RS. Rett is a disorder confirmed only by diagnositc criteria until all mutations have been discovered .This may take years and years. At the moment only one mutation has been identified so until all the mutations are found there is not one conclusive test...I AM SORRY. Iti s completly understandalbe to be in shock , as we were for months, but now am coming out of it...there is a very good Rett site..... ''IRSA...'''.its great and there are email listing groups such as Rettnet or clubrett, very much like ''Autism in girls...'' I expect you are aware that Rett only affects girls Now some encouraging news.... both my girls now walk, they have some hand fucntion, they are learning to do sign language, ( their own version)neitheor f them have expressive speech ,buyt do communicate thru gestures andbody language. please feel free to email me Mandy UK... and with RS rett syndrome > Hi everyone, it has been a really bad couple of days here. Had a > neurology appt. at hopkins and they are reasonably sure that Allie has > rett syndrome. I am feeling quite devastated. We had the blood draw for > the gene test done and I am really praying that it comes back neg. Has > anyone else done the rett gene test after already having an autism > diagnosis? Allie is 11, and I would have thought this would have been > ruled out already, but the doc says she is showing classic signs and > from the little bits of research I have been able to find, she > definately shows most of the signs. Anyone else been through this? Has > anyone had the gene test done? I just cant seem to stop crying. I feel > like I am in shock and they tell me it will be 6-8 weeks before the > test results are back. > Also if anyone has any info on retts I would really appreciate it if > you could forward it to me. I cant seem to find much, might be my > fault, as I cant seem to pull myself together very well. > cindi > > __________________________________________________ > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 13, 2000 Report Share Posted July 13, 2000 Dear Cindi, I feel for you at this present time. I have TWO girls who haveRett syndrome, aged 8 and aged 6.We live in the UK, Rett syndrome is an Autistic Spectrum Disorder, so some girls diagnosed as Autistic may have Rett.!!! What have made the doctors think your daughter has Rett and not Autism. Does she have seizures, scoliosis, hand wringing, small head circumference, loss of skills,etc..???? we have had the blood test done and are still waiting for the results, but there is no doubt our girls have Rett. Just a word of warning, even if your daughters blood test comes back negative ,it doesn't necessarily mean she does not have RS. Rett is a disorder confirmed only by diagnositc criteria until all mutations have been discovered .This may take years and years. At the moment only one mutation has been identified so until all the mutations are found there is not one conclusive test...I AM SORRY. Iti s completly understandalbe to be in shock , as we were for months, but now am coming out of it...there is a very good Rett site..... ''IRSA...'''.its great and there are email listing groups such as Rettnet or clubrett, very much like ''Autism in girls...'' I expect you are aware that Rett only affects girls Now some encouraging news.... both my girls now walk, they have some hand fucntion, they are learning to do sign language, ( their own version)neitheor f them have expressive speech ,buyt do communicate thru gestures andbody language. please feel free to email me Mandy UK... and with RS rett syndrome > Hi everyone, it has been a really bad couple of days here. Had a > neurology appt. at hopkins and they are reasonably sure that Allie has > rett syndrome. I am feeling quite devastated. We had the blood draw for > the gene test done and I am really praying that it comes back neg. Has > anyone else done the rett gene test after already having an autism > diagnosis? Allie is 11, and I would have thought this would have been > ruled out already, but the doc says she is showing classic signs and > from the little bits of research I have been able to find, she > definately shows most of the signs. Anyone else been through this? Has > anyone had the gene test done? I just cant seem to stop crying. I feel > like I am in shock and they tell me it will be 6-8 weeks before the > test results are back. > Also if anyone has any info on retts I would really appreciate it if > you could forward it to me. I cant seem to find much, might be my > fault, as I cant seem to pull myself together very well. > cindi > > __________________________________________________ > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 14, 2000 Report Share Posted July 14, 2000 Thanks for the link, I found quite a bit to read up on there. I also did a search, but wasn't really in the mood for finding anything if you know what I mean. Buried head in sand. My mom flew up from Fla. yesterday and went back this morning, but she helped me feel much better about things. Actually, the whole family was here yesterday for a support Cindi day. Of course now my house is trashed, 3 sisters and husbands with 8 nieces and nephews, and one brother with baby and wife will do that to your house. Oh well, it was worth it. Thanks again, cindi --- Tablert wrote: > Dear , > you really have a hard last few days ! I read your post this > morning but I > haven't been able to get back to you until now. > I personally don't know much about rett syndrome, so I thought > I'd see > what I could find out for you. you most likely know more than I do > but I > found a site you might be interested in. it offers information and > email > list, bulletin boards and discussions. the address is > Http://www.healthlinkusa.com I found it by going to the search > engine and > putting in rett syndrome. > I think I'm going to check it out more too. it never hurts to > learn. > I am very sorry that your daughter and family are going through > this! I > hope it all comes out alot better than anyone expects. If I come > up with > more sites I'll let you know. love t > > cindi dressler wrote: > > > Hi everyone, it has been a really bad couple of days here. Had a > > neurology appt. at hopkins and they are reasonably sure that Allie > has > > rett syndrome. I am feeling quite devastated. We had the blood draw > for > > the gene test done and I am really praying that it comes back neg. > Has > > anyone else done the rett gene test after already having an autism > > diagnosis? Allie is 11, and I would have thought this would have > been > > ruled out already, but the doc says she is showing classic signs > and > > from the little bits of research I have been able to find, she > > definately shows most of the signs. Anyone else been through this? > Has > > anyone had the gene test done? I just cant seem to stop crying. I > feel > > like I am in shock and they tell me it will be 6-8 weeks before the > > test results are back. > > Also if anyone has any info on retts I would really appreciate it > if > > you could forward it to me. I cant seem to find much, might be my > > fault, as I cant seem to pull myself together very well. > > cindi > > > > __________________________________________________ > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 14, 2000 Report Share Posted July 14, 2000 Thanks for the link, I found quite a bit to read up on there. I also did a search, but wasn't really in the mood for finding anything if you know what I mean. Buried head in sand. My mom flew up from Fla. yesterday and went back this morning, but she helped me feel much better about things. Actually, the whole family was here yesterday for a support Cindi day. Of course now my house is trashed, 3 sisters and husbands with 8 nieces and nephews, and one brother with baby and wife will do that to your house. Oh well, it was worth it. Thanks again, cindi --- Tablert wrote: > Dear , > you really have a hard last few days ! I read your post this > morning but I > haven't been able to get back to you until now. > I personally don't know much about rett syndrome, so I thought > I'd see > what I could find out for you. you most likely know more than I do > but I > found a site you might be interested in. it offers information and > email > list, bulletin boards and discussions. the address is > Http://www.healthlinkusa.com I found it by going to the search > engine and > putting in rett syndrome. > I think I'm going to check it out more too. it never hurts to > learn. > I am very sorry that your daughter and family are going through > this! I > hope it all comes out alot better than anyone expects. If I come > up with > more sites I'll let you know. love t > > cindi dressler wrote: > > > Hi everyone, it has been a really bad couple of days here. Had a > > neurology appt. at hopkins and they are reasonably sure that Allie > has > > rett syndrome. I am feeling quite devastated. We had the blood draw > for > > the gene test done and I am really praying that it comes back neg. > Has > > anyone else done the rett gene test after already having an autism > > diagnosis? Allie is 11, and I would have thought this would have > been > > ruled out already, but the doc says she is showing classic signs > and > > from the little bits of research I have been able to find, she > > definately shows most of the signs. Anyone else been through this? > Has > > anyone had the gene test done? I just cant seem to stop crying. I > feel > > like I am in shock and they tell me it will be 6-8 weeks before the > > test results are back. > > Also if anyone has any info on retts I would really appreciate it > if > > you could forward it to me. I cant seem to find much, might be my > > fault, as I cant seem to pull myself together very well. > > cindi > > > > __________________________________________________ > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 14, 2000 Report Share Posted July 14, 2000 Thanks for the link, I found quite a bit to read up on there. I also did a search, but wasn't really in the mood for finding anything if you know what I mean. Buried head in sand. My mom flew up from Fla. yesterday and went back this morning, but she helped me feel much better about things. Actually, the whole family was here yesterday for a support Cindi day. Of course now my house is trashed, 3 sisters and husbands with 8 nieces and nephews, and one brother with baby and wife will do that to your house. Oh well, it was worth it. Thanks again, cindi --- Tablert wrote: > Dear , > you really have a hard last few days ! I read your post this > morning but I > haven't been able to get back to you until now. > I personally don't know much about rett syndrome, so I thought > I'd see > what I could find out for you. you most likely know more than I do > but I > found a site you might be interested in. it offers information and > email > list, bulletin boards and discussions. the address is > Http://www.healthlinkusa.com I found it by going to the search > engine and > putting in rett syndrome. > I think I'm going to check it out more too. it never hurts to > learn. > I am very sorry that your daughter and family are going through > this! I > hope it all comes out alot better than anyone expects. If I come > up with > more sites I'll let you know. love t > > cindi dressler wrote: > > > Hi everyone, it has been a really bad couple of days here. Had a > > neurology appt. at hopkins and they are reasonably sure that Allie > has > > rett syndrome. I am feeling quite devastated. We had the blood draw > for > > the gene test done and I am really praying that it comes back neg. > Has > > anyone else done the rett gene test after already having an autism > > diagnosis? Allie is 11, and I would have thought this would have > been > > ruled out already, but the doc says she is showing classic signs > and > > from the little bits of research I have been able to find, she > > definately shows most of the signs. Anyone else been through this? > Has > > anyone had the gene test done? I just cant seem to stop crying. I > feel > > like I am in shock and they tell me it will be 6-8 weeks before the > > test results are back. > > Also if anyone has any info on retts I would really appreciate it > if > > you could forward it to me. I cant seem to find much, might be my > > fault, as I cant seem to pull myself together very well. > > cindi > > > > __________________________________________________ > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 14, 2000 Report Share Posted July 14, 2000 Mandy, how do you handle the diagnosis of both your girls? Our house has been like a house of mourning for the past few days. All my dh does is cry and then that makes me cry, and so on. They think it is Rett because we have had no head growth in the last 3 years, finger stims are out of control. We have lost many known skills, we have trembling, heavy breathing, loss of gross motor skills. (not alot, but more trouble getting into position and we are not able to walk as much of a distance as we used to and we are no longer climbing and we are much clumsier than we used to be) I was not aware that we could have rett without the gene mutation. Thanks for that info. as I will discuss it with the neuro after all tests are back. We also are not showing any increase in skills other than eye contact, communication, and socialization. It is wonderful that your girls are starting to walk and communicate. Allie was a late walker, and we now have to use a wheel chair for long outings, but we thought it was a sensory issue not a motor issue. Her communication is improving using pecs. I will check out the website you suggested. Thanks, cindi --- The Mullett Family wrote: > Dear Cindi, > I feel for you at this present time. I have TWO girls who haveRett > syndrome, aged 8 and aged 6.We live in the UK, > Rett syndrome is an Autistic Spectrum Disorder, so some girls > diagnosed as > Autistic may have Rett.!!! What have made the doctors think your > daughter > has Rett and not Autism. Does she have seizures, scoliosis, hand > wringing, > small head circumference, loss of skills,etc..???? > we have had the blood test done and are still waiting for the > results, but > there is no doubt our girls have Rett. > Just a word of warning, even if your daughters blood test comes back > negative ,it doesn't necessarily mean she does not have RS. > Rett is a disorder confirmed only by diagnositc criteria until all > mutations > have been discovered .This may take years and years. At the moment > only one > mutation has been identified so until all the mutations are found > there is > not one conclusive test...I AM SORRY. > Iti s completly understandalbe to be in shock , as we were for > months, but > now am coming out of it...there is a very good Rett site..... > ''IRSA...'''.its great and there are email listing groups such as > Rettnet or > clubrett, very much like ''Autism in girls...'' > I expect you are aware that Rett only affects girls > Now some encouraging news.... both my girls now walk, they have some > hand > fucntion, they are learning to do sign language, ( their own > version)neitheor f them have expressive speech ,buyt do communicate > thru > gestures andbody language. > please feel free to email me > Mandy UK... and with RS > rett syndrome > > > > Hi everyone, it has been a really bad couple of days here. Had a > > neurology appt. at hopkins and they are reasonably sure that Allie > has > > rett syndrome. I am feeling quite devastated. We had the blood draw > for > > the gene test done and I am really praying that it comes back neg. > Has > > anyone else done the rett gene test after already having an autism > > diagnosis? Allie is 11, and I would have thought this would have > been > > ruled out already, but the doc says she is showing classic signs > and > > from the little bits of research I have been able to find, she > > definately shows most of the signs. Anyone else been through this? > Has > > anyone had the gene test done? I just cant seem to stop crying. I > feel > > like I am in shock and they tell me it will be 6-8 weeks before the > > test results are back. > > Also if anyone has any info on retts I would really appreciate it > if > > you could forward it to me. I cant seem to find much, might be my > > fault, as I cant seem to pull myself together very well. > > cindi > > > > __________________________________________________ > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 14, 2000 Report Share Posted July 14, 2000 Mandy, how do you handle the diagnosis of both your girls? Our house has been like a house of mourning for the past few days. All my dh does is cry and then that makes me cry, and so on. They think it is Rett because we have had no head growth in the last 3 years, finger stims are out of control. We have lost many known skills, we have trembling, heavy breathing, loss of gross motor skills. (not alot, but more trouble getting into position and we are not able to walk as much of a distance as we used to and we are no longer climbing and we are much clumsier than we used to be) I was not aware that we could have rett without the gene mutation. Thanks for that info. as I will discuss it with the neuro after all tests are back. We also are not showing any increase in skills other than eye contact, communication, and socialization. It is wonderful that your girls are starting to walk and communicate. Allie was a late walker, and we now have to use a wheel chair for long outings, but we thought it was a sensory issue not a motor issue. Her communication is improving using pecs. I will check out the website you suggested. Thanks, cindi --- The Mullett Family wrote: > Dear Cindi, > I feel for you at this present time. I have TWO girls who haveRett > syndrome, aged 8 and aged 6.We live in the UK, > Rett syndrome is an Autistic Spectrum Disorder, so some girls > diagnosed as > Autistic may have Rett.!!! What have made the doctors think your > daughter > has Rett and not Autism. Does she have seizures, scoliosis, hand > wringing, > small head circumference, loss of skills,etc..???? > we have had the blood test done and are still waiting for the > results, but > there is no doubt our girls have Rett. > Just a word of warning, even if your daughters blood test comes back > negative ,it doesn't necessarily mean she does not have RS. > Rett is a disorder confirmed only by diagnositc criteria until all > mutations > have been discovered .This may take years and years. At the moment > only one > mutation has been identified so until all the mutations are found > there is > not one conclusive test...I AM SORRY. > Iti s completly understandalbe to be in shock , as we were for > months, but > now am coming out of it...there is a very good Rett site..... > ''IRSA...'''.its great and there are email listing groups such as > Rettnet or > clubrett, very much like ''Autism in girls...'' > I expect you are aware that Rett only affects girls > Now some encouraging news.... both my girls now walk, they have some > hand > fucntion, they are learning to do sign language, ( their own > version)neitheor f them have expressive speech ,buyt do communicate > thru > gestures andbody language. > please feel free to email me > Mandy UK... and with RS > rett syndrome > > > > Hi everyone, it has been a really bad couple of days here. Had a > > neurology appt. at hopkins and they are reasonably sure that Allie > has > > rett syndrome. I am feeling quite devastated. We had the blood draw > for > > the gene test done and I am really praying that it comes back neg. > Has > > anyone else done the rett gene test after already having an autism > > diagnosis? Allie is 11, and I would have thought this would have > been > > ruled out already, but the doc says she is showing classic signs > and > > from the little bits of research I have been able to find, she > > definately shows most of the signs. Anyone else been through this? > Has > > anyone had the gene test done? I just cant seem to stop crying. I > feel > > like I am in shock and they tell me it will be 6-8 weeks before the > > test results are back. > > Also if anyone has any info on retts I would really appreciate it > if > > you could forward it to me. I cant seem to find much, might be my > > fault, as I cant seem to pull myself together very well. > > cindi > > > > __________________________________________________ > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 14, 2000 Report Share Posted July 14, 2000 Mandy, how do you handle the diagnosis of both your girls? Our house has been like a house of mourning for the past few days. All my dh does is cry and then that makes me cry, and so on. They think it is Rett because we have had no head growth in the last 3 years, finger stims are out of control. We have lost many known skills, we have trembling, heavy breathing, loss of gross motor skills. (not alot, but more trouble getting into position and we are not able to walk as much of a distance as we used to and we are no longer climbing and we are much clumsier than we used to be) I was not aware that we could have rett without the gene mutation. Thanks for that info. as I will discuss it with the neuro after all tests are back. We also are not showing any increase in skills other than eye contact, communication, and socialization. It is wonderful that your girls are starting to walk and communicate. Allie was a late walker, and we now have to use a wheel chair for long outings, but we thought it was a sensory issue not a motor issue. Her communication is improving using pecs. I will check out the website you suggested. Thanks, cindi --- The Mullett Family wrote: > Dear Cindi, > I feel for you at this present time. I have TWO girls who haveRett > syndrome, aged 8 and aged 6.We live in the UK, > Rett syndrome is an Autistic Spectrum Disorder, so some girls > diagnosed as > Autistic may have Rett.!!! What have made the doctors think your > daughter > has Rett and not Autism. Does she have seizures, scoliosis, hand > wringing, > small head circumference, loss of skills,etc..???? > we have had the blood test done and are still waiting for the > results, but > there is no doubt our girls have Rett. > Just a word of warning, even if your daughters blood test comes back > negative ,it doesn't necessarily mean she does not have RS. > Rett is a disorder confirmed only by diagnositc criteria until all > mutations > have been discovered .This may take years and years. At the moment > only one > mutation has been identified so until all the mutations are found > there is > not one conclusive test...I AM SORRY. > Iti s completly understandalbe to be in shock , as we were for > months, but > now am coming out of it...there is a very good Rett site..... > ''IRSA...'''.its great and there are email listing groups such as > Rettnet or > clubrett, very much like ''Autism in girls...'' > I expect you are aware that Rett only affects girls > Now some encouraging news.... both my girls now walk, they have some > hand > fucntion, they are learning to do sign language, ( their own > version)neitheor f them have expressive speech ,buyt do communicate > thru > gestures andbody language. > please feel free to email me > Mandy UK... and with RS > rett syndrome > > > > Hi everyone, it has been a really bad couple of days here. Had a > > neurology appt. at hopkins and they are reasonably sure that Allie > has > > rett syndrome. I am feeling quite devastated. We had the blood draw > for > > the gene test done and I am really praying that it comes back neg. > Has > > anyone else done the rett gene test after already having an autism > > diagnosis? Allie is 11, and I would have thought this would have > been > > ruled out already, but the doc says she is showing classic signs > and > > from the little bits of research I have been able to find, she > > definately shows most of the signs. Anyone else been through this? > Has > > anyone had the gene test done? I just cant seem to stop crying. I > feel > > like I am in shock and they tell me it will be 6-8 weeks before the > > test results are back. > > Also if anyone has any info on retts I would really appreciate it > if > > you could forward it to me. I cant seem to find much, might be my > > fault, as I cant seem to pull myself together very well. > > cindi > > > > __________________________________________________ > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 14, 2000 Report Share Posted July 14, 2000 I am so glad your family was able to be there to comfort you, this is going to be a hard few weeks. Sonja was tested for it and it drove me nuts waiting even though I didn't think she had it her head size is actually a bit (just a bit) on the large size. I remember reading someplace about that (lg head) for something but it was when I first began all the searches and everything seemed to just blend in together because I was up all hours of the night after she was first diagnosed looking for information. anyway what I wanted to say was anytime you need a shoulder to cry on were all here and I am thinking about you and your little Allie hoping for the best for your family. Theresa I wish now I could remeber where I read it --- cindi dressler wrote: > Thanks for the link, I found quite a bit to read up > on there. I also > did a search, but wasn't really in the mood for > finding anything if you > know what I mean. Buried head in sand. My mom flew > up from Fla. > yesterday and went back this morning, but she helped > me feel much > better about things. Actually, the whole family was > here yesterday for > a support Cindi day. Of course now my house is > trashed, 3 sisters and > husbands with 8 nieces and nephews, and one brother > with baby and wife > will do that to your house. Oh well, it was worth > it. > Thanks again, > cindi > __________________________________________________ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 14, 2000 Report Share Posted July 14, 2000 I am so glad your family was able to be there to comfort you, this is going to be a hard few weeks. Sonja was tested for it and it drove me nuts waiting even though I didn't think she had it her head size is actually a bit (just a bit) on the large size. I remember reading someplace about that (lg head) for something but it was when I first began all the searches and everything seemed to just blend in together because I was up all hours of the night after she was first diagnosed looking for information. anyway what I wanted to say was anytime you need a shoulder to cry on were all here and I am thinking about you and your little Allie hoping for the best for your family. Theresa I wish now I could remeber where I read it --- cindi dressler wrote: > Thanks for the link, I found quite a bit to read up > on there. I also > did a search, but wasn't really in the mood for > finding anything if you > know what I mean. Buried head in sand. My mom flew > up from Fla. > yesterday and went back this morning, but she helped > me feel much > better about things. Actually, the whole family was > here yesterday for > a support Cindi day. Of course now my house is > trashed, 3 sisters and > husbands with 8 nieces and nephews, and one brother > with baby and wife > will do that to your house. Oh well, it was worth > it. > Thanks again, > cindi > __________________________________________________ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 14, 2000 Report Share Posted July 14, 2000 I am so glad your family was able to be there to comfort you, this is going to be a hard few weeks. Sonja was tested for it and it drove me nuts waiting even though I didn't think she had it her head size is actually a bit (just a bit) on the large size. I remember reading someplace about that (lg head) for something but it was when I first began all the searches and everything seemed to just blend in together because I was up all hours of the night after she was first diagnosed looking for information. anyway what I wanted to say was anytime you need a shoulder to cry on were all here and I am thinking about you and your little Allie hoping for the best for your family. Theresa I wish now I could remeber where I read it --- cindi dressler wrote: > Thanks for the link, I found quite a bit to read up > on there. I also > did a search, but wasn't really in the mood for > finding anything if you > know what I mean. Buried head in sand. My mom flew > up from Fla. > yesterday and went back this morning, but she helped > me feel much > better about things. Actually, the whole family was > here yesterday for > a support Cindi day. Of course now my house is > trashed, 3 sisters and > husbands with 8 nieces and nephews, and one brother > with baby and wife > will do that to your house. Oh well, it was worth > it. > Thanks again, > cindi > __________________________________________________ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 16, 2000 Report Share Posted July 16, 2000 , actually when Allie was dx'd autism it was a relief. It took over a year of doctors and tests before they gave me that dx, and it felt good to be able to name our problem. Allie is 11, so back 9 years ago it was much harder to get a dx than it is now. We are not having obvious seizures, but the doc wants to do a 24hr eeg to see if he can find anything. I am finally able to get through the day without crying, so I guess I am adjusting. In some ways it is almost a relief now to know why all of the therapies and treatments we have tried are not giving the same type of results as other parents are seeing. Though I know the diet has helped 100%. I just cant imagine life without her, as she is our entire life. That is what is the hardest part of it. Well, I'm gonna go so I dont start crying again. Might make it the whole day. cindi --- Tablert wrote: > Dear Cindi, > It is really wonderful that you have a supportive family! It's > good to > have one, there to be on your side when you need them. > I can understand what you mean about hiding your head in the sand. > when > we got the DX for my daughter a week ago, I had all kinds of dumb > ideas > running through my head. but I think that's just part of being a > mom. > Did your daughter always have seizures? My daughter never has > had so > far,I hope it doesn't start. my daughter was DX's with LFA and MR . I > wasn't > to pleased by it, enfact I was just sure I knew more than the > specialist > did.I expected the autism but not the rest. > I think after awhile you will feel better.I bet you felt the > same way > after getting the autism DX in the first place, I know I was just > sick. like > I said I expected the autism but not low functioning nor the > retardation > part. I think part of the depression is shock. even if you expect > it. oh > well I'm just going on and on. > Take care and I really hope it all works out much better than you > expect. love t > __________________________________________________ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 5, 2003 Report Share Posted November 5, 2003 Study Offers New Insight Into Rett Syndrome Rett Syndrome Research Foundation funded study leads to breakthrough for Rett syndrome research http://www.eurekalert.org/pub_releases/2003-10/wifb-son102703.php Rett Syndrome is a major cause of mental retardation in girls. Although researchers have identified the protein involved in the disease, its exact role remains a mystery. Now, a group of researchers from Children's Hospital Boston and Whitehead Institute of Biomedical Research have identified the protein's function, a discovery the scientists say could be the first significant advance in Rett Syndrome research in years. The study, reported in this week's issue of the journal Science, describes how the protein in question controls gene expression in normal central nervous system cells. Researchers suspect that mutations in the protein impair its ability to regulate genes during a critical stage of brain development. “We think that this deregulation may be responsible for some of the defects that we see in Rett patients,†says Greenberg, director of the Children's Hospital group and a lead author of the study. A neurological disorder causing mental retardation as well as cerebral-palsy and autism-like symptoms, Rett Syndrome affects one out of approximately 15,000 female babies worldwide. Current therapies, including medications that help prevent seizures, treat some of the symptoms but not the disease. Researchers have long known that mutations in a protein called MeCP2 somehow cause the disease, but until recently, little was known about how the protein worked. Previous lab experiments demonstrated that MeCP2 binds to genes that have undergone methylation (a fundamental biological process in which the cell disables genes it doesn't use by modifying them with methyl). Like a biological deadbolt, MeCP2 adheres to these methylated genes, further preventing them from ever activating. As a result, scientists theorized that MeCP2 was what they call a “long-range gene repressor.†Rudolf Jaenisch's Whitehead lab has studied this protein for years, demonstrating that when MeCP2 is disabled in mice, the animals manifest Rett-like symptoms. But they couldn't figure out why this happens, and they couldn't find the exact genes that MeCP2 targets. At the same time, Greenberg, who also is a professor of neurobiology at Harvard Medical School, was studying a central nervous system gene that is highly active in infants age 6 to 18 months -- the same age that Rett symptoms first appear. Greenberg noted that this gene, called BDNF, constantly flips back and forth between an “on†state, where it rapidly produces protein, and an “off†state, during which it's silent. “We knew a lot about how it was turned on,†says Greenberg, “but we wanted to know what kept it off.†+ Article continues: http://www.eurekalert.org/pub_releases/2003-10/wifb-son102703.php * * * Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 5, 2003 Report Share Posted November 5, 2003 Study Offers New Insight Into Rett Syndrome Rett Syndrome Research Foundation funded study leads to breakthrough for Rett syndrome research http://www.eurekalert.org/pub_releases/2003-10/wifb-son102703.php Rett Syndrome is a major cause of mental retardation in girls. Although researchers have identified the protein involved in the disease, its exact role remains a mystery. Now, a group of researchers from Children's Hospital Boston and Whitehead Institute of Biomedical Research have identified the protein's function, a discovery the scientists say could be the first significant advance in Rett Syndrome research in years. The study, reported in this week's issue of the journal Science, describes how the protein in question controls gene expression in normal central nervous system cells. Researchers suspect that mutations in the protein impair its ability to regulate genes during a critical stage of brain development. “We think that this deregulation may be responsible for some of the defects that we see in Rett patients,†says Greenberg, director of the Children's Hospital group and a lead author of the study. A neurological disorder causing mental retardation as well as cerebral-palsy and autism-like symptoms, Rett Syndrome affects one out of approximately 15,000 female babies worldwide. Current therapies, including medications that help prevent seizures, treat some of the symptoms but not the disease. Researchers have long known that mutations in a protein called MeCP2 somehow cause the disease, but until recently, little was known about how the protein worked. Previous lab experiments demonstrated that MeCP2 binds to genes that have undergone methylation (a fundamental biological process in which the cell disables genes it doesn't use by modifying them with methyl). Like a biological deadbolt, MeCP2 adheres to these methylated genes, further preventing them from ever activating. As a result, scientists theorized that MeCP2 was what they call a “long-range gene repressor.†Rudolf Jaenisch's Whitehead lab has studied this protein for years, demonstrating that when MeCP2 is disabled in mice, the animals manifest Rett-like symptoms. But they couldn't figure out why this happens, and they couldn't find the exact genes that MeCP2 targets. At the same time, Greenberg, who also is a professor of neurobiology at Harvard Medical School, was studying a central nervous system gene that is highly active in infants age 6 to 18 months -- the same age that Rett symptoms first appear. Greenberg noted that this gene, called BDNF, constantly flips back and forth between an “on†state, where it rapidly produces protein, and an “off†state, during which it's silent. “We knew a lot about how it was turned on,†says Greenberg, “but we wanted to know what kept it off.†+ Article continues: http://www.eurekalert.org/pub_releases/2003-10/wifb-son102703.php * * * Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 5, 2003 Report Share Posted November 5, 2003 Study Offers New Insight Into Rett Syndrome Rett Syndrome Research Foundation funded study leads to breakthrough for Rett syndrome research http://www.eurekalert.org/pub_releases/2003-10/wifb-son102703.php Rett Syndrome is a major cause of mental retardation in girls. Although researchers have identified the protein involved in the disease, its exact role remains a mystery. Now, a group of researchers from Children's Hospital Boston and Whitehead Institute of Biomedical Research have identified the protein's function, a discovery the scientists say could be the first significant advance in Rett Syndrome research in years. The study, reported in this week's issue of the journal Science, describes how the protein in question controls gene expression in normal central nervous system cells. Researchers suspect that mutations in the protein impair its ability to regulate genes during a critical stage of brain development. “We think that this deregulation may be responsible for some of the defects that we see in Rett patients,†says Greenberg, director of the Children's Hospital group and a lead author of the study. A neurological disorder causing mental retardation as well as cerebral-palsy and autism-like symptoms, Rett Syndrome affects one out of approximately 15,000 female babies worldwide. Current therapies, including medications that help prevent seizures, treat some of the symptoms but not the disease. Researchers have long known that mutations in a protein called MeCP2 somehow cause the disease, but until recently, little was known about how the protein worked. Previous lab experiments demonstrated that MeCP2 binds to genes that have undergone methylation (a fundamental biological process in which the cell disables genes it doesn't use by modifying them with methyl). Like a biological deadbolt, MeCP2 adheres to these methylated genes, further preventing them from ever activating. As a result, scientists theorized that MeCP2 was what they call a “long-range gene repressor.†Rudolf Jaenisch's Whitehead lab has studied this protein for years, demonstrating that when MeCP2 is disabled in mice, the animals manifest Rett-like symptoms. But they couldn't figure out why this happens, and they couldn't find the exact genes that MeCP2 targets. At the same time, Greenberg, who also is a professor of neurobiology at Harvard Medical School, was studying a central nervous system gene that is highly active in infants age 6 to 18 months -- the same age that Rett symptoms first appear. Greenberg noted that this gene, called BDNF, constantly flips back and forth between an “on†state, where it rapidly produces protein, and an “off†state, during which it's silent. “We knew a lot about how it was turned on,†says Greenberg, “but we wanted to know what kept it off.†+ Article continues: http://www.eurekalert.org/pub_releases/2003-10/wifb-son102703.php * * * Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 10, 2008 Report Share Posted November 10, 2008 Does anyone know anything about Rett Syndrome, and if it responds to biomed??? My friend's daughter has just been diagnosed. Thanks everybody! StephSM Quote Link to comment Share on other sites More sharing options...
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