Guest guest Posted November 30, 2010 Report Share Posted November 30, 2010 I think many of us did or do. Back when my son was first tested in 1999 -2000 most of our reports in this group if you check the archives came back negative with the testing -but today most of the children are showing chromosomal abnormalities/additions or deletions - which right now tells us just that -but nothing else. Not sure if it's better to think there is nothing or know there is something but not know what it means?!! I suspect if we went back and tested our kids from back then with the testing they have available today the same results would apply. The bottom line is still securing the appropriate therapies and placement- until we learn more about how the testing can help us help our children. ===== Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 30, 2010 Report Share Posted November 30, 2010 Yes. We did a lot of it and the Microarray and Fish test found Chromosome 22q11.2 Duplication Syndrome in my son. From: [mailto: ] On Behalf Of debbie biondi Sent: Tuesday, November 30, 2010 6:12 PM ApraxiaNetworkOfBergenCountyegroups; Cc: 'authorsupport' Subject: [ ] chromosonal testing? Anyone ever do chromosonal testing? Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 1, 2010 Report Share Posted December 1, 2010 Yes, this was done a couple of weeks after our daughter's birth. It was a FISH test that came back abnormal. Although that is the reason behind our daughter's delays, this sadly does not help craft an intervention plan! > > Anyone ever do chromosonal testing? > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 1, 2010 Report Share Posted December 1, 2010 Has anyone looked into/applied for a Pepsi Refresh grant to help with the research funding for apraxia? I ask as a local family helped to win a second place grant worth $250,000 for AHC affecting 600 children worldwide. You can see the article on http://www.wral.com/news/local/noteworthy/story/8706377/. Just thought it might be worthwhile to look into. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 1, 2010 Report Share Posted December 1, 2010 The genetic testing done at birth showed nothing, but normal.She's 9yo now. when the issues started at 3mos old and it was strongly suggested we follow up with an actual genetics specialist, than her deletion was discovered. than a couple years ago they took blood again since the technology had changed and improved so much in the five years since her first test. It gave them a better picture of her deletion and the doctors have said he has seen kids with her type of deletion that have speech issues. > > Anyone ever do chromosonal testing? > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 2, 2010 Report Share Posted December 2, 2010 Hi- I'm not sure what you mean when you said that " the results of Genetic testing could be used in ways to harm a child " .... Genetic testing involves a simple blood test.... I have never heard of any " Harm " coming from this! Results are confidential.... My feelings are that it is important to try to figure out as much as we can about our kids.... Genetic testing can be just one more piece of the puzzle of our kids! We had it done- and I would suggest it to anyone! > > > > Anyone ever do chromosonal testing? > > > > > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 2, 2010 Report Share Posted December 2, 2010 My 2 year old daughter was recently diagnosed by FISH with 22q13 Deletion Syndrome. Symptoms include neonatal hypotonia, absent to severely delayed speech, and global developmental delays. Only 600 people worldwide have been diagnosed since 1998. > > Anyone ever do chromosonal testing? > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 2, 2010 Report Share Posted December 2, 2010 Wow, its sad you have such a doom and gloom outlook on genetic testing when you've never done any! No longer fight? Our genetic testing provided plenty of answers to not just her family, but at least two of her doctors!! My 9yo daughter had brain surgery at 10mos old. The Neurosurgeon expected to send us on our way and say have a nice life. Three months later, he was doing surgery again and once more three months after that! Thats surgery 3x at 10mos, 13mos and 17 mos old! Her bones were not healing right in her skull the way they were supposed to and he never understood why! We did all the genetic testing and found she does have a deletion associated with albright hereditary osteodystropy. I know plenty of AHO parents who didnt just give up when they got an AHO diagnosis--it gave them power to find new answers and help other parents, like me in the same situation. It also helped her Neurosurgeon explain why, in the name of all things good, her burr hole never healed the way he thought it would! So if he has new Pediatric patients who have any form of AHO, than he knows that the healing process is different for those kids. It also told him to be very cautious when it came to her Chiari Malformation surgery which he did Sept 2010. He knows now that he needs to watch how her bones heal and did only what had to be done, where other kids with Chiari have a much more involved surgery. IF it wasn't for the genetic testing, she may not have healed as easily as she has so far! If he had done the surgery that most kids with Chiari have, it would have changed the range of motion in her neck. So some of us have lots of faith in genetic testing,some do not get a definitive reason for thier speech delays but some of us do. It did not mean the end of the road and we just sit back and say oh well, we have a reason, I guess we can stop all treatment,therapy and doctors!Huh?? It also helped her genetics doctors in NYC to give answers to other parents who might have a new baby wiht the same kind of deletion. It also helped her Ped Endocronologist explain some of the issues we went to him for. So, some of us get plenty of answers with genetic testing. > > > > > > Anyone ever do chromosonal testing? > > > > > > > > > > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 3, 2010 Report Share Posted December 3, 2010 Hi Elena, Please don't be sorry! We all have challenges, some hit us at once and some over a life time, but we all deal with them and keep on moving forward. I understand your points. Maybe if we got this diagnosis when my daughter was 6 months old, MAYBE I wouldn't have pushed her so hard in PT and OT. And getting this diagnosis was devestating for my husband and I on so many levels. Our optimism went from 100% to nearly nothing in an instant. I got the diagnosis news 3 weeks ago and what has it done for me? It made me get my a** in gear and now I push harder to get her to communicate whether it be verbally, written, cards, computers - whatever it takes! I am glad we did the genetic testing. My daughter started PT at 6 months due to torticollis and hypotonia. She started OT about a month later. When she was 18 months old we started speech and she was kicked out after about 5 months because she wasn't progressing. " Bring her back when she starts to progress on her own " ....So between this speech therapist and another OT we had, I've learned how to pick a good therapist and we're currently looking for one specializing in augmentative communication in our area. I do believe that our genetics doctor did metabolic testing and I will double check next week when I get some other test results back. I always remind myself that all doctors " practice " medicine. I will seek alternatives to the main stream doctors. I do believe a tailored diet can help a lot of medical issues for everyone. It's been proven in my family time & time again. > > > > Anyone ever do chromosonal testing? > > > > > > > ------------------------------------ > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 3, 2010 Report Share Posted December 3, 2010 FISH stands for Fluorescence in-situ hybridization. My understanding is that they shine a light on the chromosomes and this reveals a deletion or rearrangement in the chromosome. If you're pregnant and planning to have a CVS or amniocentisis, this FISH test would be requested in addition to these tests. > > > > > > Anyone ever do chromosonal testing? > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 4, 2010 Report Share Posted December 4, 2010 We worked very closely with her Ped Endocronologist and saw him more often than the genetics doctor. Yes, genetics is just information that adds to the puzzle. but he didnt find out she had genetic differences and send us on our way, it made the genetics doctor more curious to find out what her issues were caused by! We saw the head of the department and he'd parade 6-7 residents and anyone else who was around, past my daughter to show them what he had found in her genetic make-up and how it related to her physical features. He also had quite a few conversations with teh Ped Endo about what that doctor had found in his own bunch of bloodwork. I took a stack of lab papers to both of them. We saw the Ped Endo for other issues that turned out to be nothing. He did test all the vitamins and none of it was high, and all were in good range. The only one that was off was her Vit D and we've been giving her extra Vit D since. He also said no one knows what a " normal " level of Vit D really is so lots of people show up with low Vit D, esp in the winter months. So we've been discharged from the Ped Endo but still see the genetics once a year since he didnt just say, oh we have your answer, please go away now! I can guantee he is not done trying to fiqure her out! Neither have her parents! Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 4, 2010 Report Share Posted December 4, 2010 Great way to put it , I just wanted to add that yes there are if you check the archives a number of cases where the father or mother (typically the father for some reason) has the same chromosonal abnormality and while the child has speech and other delays the father is normal functioning. Also to add to this as I said just about all of us around 6 to 10 years ago at least if you check the archives went through genetic testing with our children -extensive testing I may add as in our case- and we found out nothing. I don't believe as parents we would all of a sudden go from as a group all of us being very interested in testing to becoming negative toward it if that is what I am hearing other than the testing is giving an abnormal reading but not providing any answers for most. So upsetting the parent perhaps in how the results are presented..and without answers which I'll explain more about that below. Yes I agree that the testing is important just to see if there are any possible answers. But- and this is for me the real point -if it means nothing in the sense they can only tell you that your child has an abnormal reading but not say what it means -and especially when the parent who is normal functioning has the same " abnormal " reading -yes -I think that kind of information can make a parent feel bad for no reason. One developmental pediatrician once told me that if a child has high tone in the extremities and low tone in the body that in itself it CP, but most " good " doctors won't use that diagnosis on the evaluation and instead will just put the high and low tone because " they know they will greatly upset the parent for no reason because CP is not progressive and can be very mild and in the case where there is nothing to be gained from the knowledge a good doctor will know the diagnosis CP will upset the parentso will just provide the information in a way that won't upset the parent. " So from what I'm hearing today's chromosonal testing probably falls into that same boat. Yes all should get their child tested -but the way they present the findings should be more sensitive to the parents- especially when one of the parents has the same abnormal finding. Perhaps there are ways as in the case of CP where the news can be presented in a way that provides info without upsetting anyone. The fact this topic is creating such strong feelings means there are parents that are upset. And think about it, we're thinking of our children and many of us including me have not been tested recently. ....chances are if I was to again be tested today I'm abnormal and so are most of you reading this is you have a child with autism or apraxia. I remember most of us being so relieved to find out there was " northing " wrong- and yet again if the quality of the testing today was available then I'm sure that would not have been the case. I too wish that if the improved the testing that it would provide more answers on how we can better help our children, and perhaps in another decade or two or more from now we will have more answers. So in short -yes a " normal " looking individual can have the same " abnormal " findings as one with today's apraxia or autism etc. And that means???? ===== Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 6, 2010 Report Share Posted December 6, 2010 CVS and amniocentesis would not have shown that my son had the 10q23.31 deletion.... the FISH test did show this. [ ] Re: chromosonal testing? FISH stands for Fluorescence in-situ hybridization. My understanding is that they shine a light on the chromosomes and this reveals a deletion or rearrangement in the chromosome. If you're pregnant and planning to have a CVS or amniocentisis, this FISH test would be requested in addition to these tests. > > > > > > Anyone ever do chromosonal testing? > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 7, 2010 Report Share Posted December 7, 2010 Right, a CVS and amnio alone will not detect these deletions. > > > > > > > > Anyone ever do chromosonal testing? > > > > > > > > > > > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
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