Guest guest Posted August 23, 2002 Report Share Posted August 23, 2002 Hello, I'm sorry, what is your name??? I know you're Carson's Mom!! I have had the same feeling from time to time with my son, peck, peck, peck. Especially at the Geneticist, where they go over them with a fine tooth comb, it seems. One time, I got so frustrated, I said to the Doc, " Does he get credit for good hair? " Our sons have some similar issues, however there are so many possibilities with regard to what " it " can be. I think I'll leave that up to the experts, but it sounds as if they do have some suspicions that are to your advantage to have checked out. If they can peck away, but find a diagnosis, then you know exactly what you are dealing with. Therefore, you may be better able to help your son. So, hang in there!! If it helps, you can go to www.google.com and type in the symptoms your son has and see what pops up. There are a lot of things you could research while waiting, I always think in this situation that knowledge is power. While researching my own problems, I found the name of my disease way before my Docs mentioned it--I read about it online and these light bulbs kept popping in my head!! You will find a ton of information. I have my " standard signature " on the bottom of the page. But a little more detail may help you. My son's heart condition--Tetrology of Fallot--includes a VSD--hole in his heart/heart murmur. He had open heart surgery to correct most of his problem (including a patch for the hole) while he was seven months old. He is now missing a valve which will need to be placed sometime in the next year or so. It is strongly believed that he has partial Di Syndrome at this point, although we have not tested him for it. It wouldn't really make a difference in the way we treat him (intellectually or physically) so we haven't done it. However, he does not have learning disabilities, most of his issues are physical. If I believed that he had some learning problems, I would insist on having EVERY test done. Also, Carson is at an excellent age for this testing, it could be very helpful in school. The earlier the better! Let me know if I can help more. If you want to e-mail me privately, please feel free to do so. Sandi--Mom to , age 9. Suspected IgA def., Tetrology of Fallot, chronic sinusitis, chronic ear infections, asthma, severe allergies, GERD. Ten surgeries, heart surgery pending. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 23, 2002 Report Share Posted August 23, 2002 Interesting. Lucas has beautiful cowlicks all over his gorgeous head of hair. Interesting Huh, Never heard ofsuch. Let me know what you hear. BARBIE Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 23, 2002 Report Share Posted August 23, 2002 Interesting....Kody has a double cowlick on the back of his head too....poor kid's hair stands on end like Dennis the Mennis! LOL Every barber that cuts his hair comments on it but no doctors have. Gee, I'd like to know more about that too! I do think that I read something about cowlicks in the past, maybe it was a vague mention on the vela-cardio-facial syndrome website. There is alot of information on Di Syndrome there. I'll do some digging too!! Diane, Mom to Kody Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 26, 2002 Report Share Posted August 26, 2002 Hello, I know what you are t alking about with the pecking going on. For a long time I htought they were inventing test to put my duaghters through. It seemed as everyday there was a new test we needed to have done. Now when we get to duke we have to have it done all overe again. mrschristyiii wrote:Hey Group, I took Carson to see a Doctor yesterday to test him for learning disabilities. Carson has ADHD .During the exam we went over his medical history . The Doctor noticed that Carson has two cow licks or double crown on the back top of his head.The Doctor said that was a sign of some kind of genetic defect but he did not know which one. He ordered a genetic test to be done to see what defect it is. Carson is 51/2 and this is the first time anyone has said he has a genetic defect. Two months ago we found out through another Doctor that Carson has a heart murmer for the first time also.It's like being pecked to death by chickens! your son has this " PECK " ,your son has that " PECK " , your son needs some more tests he may have this and that " PECK PECK " . I wish we could just have him tested with a complete work up all at once and findout everything at once so we can set a game plan for his care and get on with life you know? I was wondering if yall might know what this genetic defect could be? The thought of waiting for the test to be done next month and then wating for the results are going to drive me crazy! Thank yall so much for your help! ! ! Carson:Selective IgA Deficiency ,Asthma, Heart Murmer,ADHD, This forum is open to parents and caregivers of children diagnosed with a Primary Immune Deficiency. Opinions or medical advice stated here are the sole responsibility of the poster and should not be taken as professional advice. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 31, 2009 Report Share Posted January 31, 2009 There are 4 different types of genetic disorders. One of them is called a single-gene disorder and it will affect 1 in every 200 babies born here in the U.S. There are more than 6,000 known single-gene disorders! Maybe this why the government is now collecting our newborn babies' DNA? Not to help us of course, but maybe figure out a way to make some money in the process? The state of Minnesota has actually been collecting and storing this DNA illegally since 1997!! http://tinyurl.com/cnu5ff http://tinyurl.com/8dyv56 http://tinyurl.com/ajpw2c I would like to see the rate of genetic disorders in the U.S. compared to that of non-industrialized and non-vaccinated nations! This could explain why the U.S. is giving " free " vaccines to third world countries too. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 31, 2009 Report Share Posted January 31, 2009 There are 4 different types of genetic disorders. One of them is called a single-gene disorder and it will affect 1 in every 200 babies born here in the U.S. There are more than 6,000 known single-gene disorders! Maybe this why the government is now collecting our newborn babies' DNA? Not to help us of course, but maybe figure out a way to make some money in the process? The state of Minnesota has actually been collecting and storing this DNA illegally since 1997!! http://tinyurl.com/cnu5ff http://tinyurl.com/8dyv56 http://tinyurl.com/ajpw2c I would like to see the rate of genetic disorders in the U.S. compared to that of non-industrialized and non-vaccinated nations! This could explain why the U.S. is giving " free " vaccines to third world countries too. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 31, 2009 Report Share Posted January 31, 2009 This spin has long since been debunked. Ingrid " The fallacy of genetic determinism is widely recognized (18). Genuine genetic diseases that can be attributed to single genes constitute less than 2% of all diseases. And more and more geneticists are coming around to the view that even those are subject to so many other genetic and environmental influences that there is simply no such thing as a single-gene condition. For the rest, the association between the condition and the specific genes or genetic markers reduces to tenuous ‘predispositions’ or ‘susceptibility’ (see above). ‘Predipositions’ to cancer for example, conceals the fact that important environmental factors are left out of consideration. These include the hundreds of acknowledged industrial carcinogens polluting our environment. It is well-known that the incidence of cancer increases with industrialization and with the use of pesticides. Women in non-industrialized Asian countries have a much lower incidence of breast cancer than the women living in the industrialized west. However, when Asian women emigrate to Europe and the United States, their incidence of cancer jumps to that of the white European women within a single generation. Similarly, when DDT and other pesticides were phased out in Israel, breast cancer mortality in pre-menopausal women dropped by 30%. The overwhelming causes of ill-health are environmental and social. That is the conclusion of a growing body of research findings. Environmental influences swamp even large genetic differences. The genetic determinist approach of the human genome programme is pernicious because it diverts attention and resources away from addressing the real causes of ill-health, while at the same time stigmatizing the victims and fueling eugenic tendencies in society. The health of nations will be infinitely better served by devoting resources to preventing environmental pollution and to phasing out agrochemicals, rather than by identifying all the genes that ‘predispose’ people to ill-health. The UK Royal Society produced a report in July, calling for national and international coordination to deal with the dangers posed to humans and wildlife by endocrine-disrupting chemicals, substances thought to mimic or block natural hormones in amounts too minute to trigger a conventional toxic response (19). But it is the inherent complexity of the human organism and the lack of a concept of the organism as a coherent whole that will continue to frustrate all attempts at understanding health and disease within the dominant, reductionist framework. Despite the almost weekly hype on cancer cures, there is none, or none that has resulted from information on genes and gene sequences. As mentioned earlier, some 50 000 genes have been identified that are active in one or more cancers using the Gene Chip, which is half of the maximum number of gene predicted in the human genome! In principle, knowing the genes that are over-expressed or inactive in individual cancers can allow specific genes to be targeted. But this is no different from interventions that have previously been available to single-gene defects such as sickle cell anaemia or cystic fibrosis, none of which has been cured as a result; which is why gene therapy has been attempted, equally to no avail so far. One obstacle to effective cure is that it is impossible to avoid unintended ‘side-effects’ in a system where proteins interact with one another and with the genes. But the main problem is the failure to recognize that just as health is a property of the organism as whole, so too is disease. To try to understand disease in terms of genes and protein interactions is worse than trying to understand how a machine works in terms of its nuts and bolts, simply because the parts of the organism, unlike those of a machine, are inseparably tangled up with one another. Mechanistic understanding in terms of interacting parts is extremely unlikely to lead to the design of better drugs. For that, we require knowledge of the design of the human organism. And no amount of information on genes and protein interactions will ever add up to the complex, entangled whole that is the organism. The promise of customized medicine and prescribed lifestyle based on an individual’s genetic makeup is a pipe-dream. The effect of each gene depends not only on external environmental factors, but on the genetic back-ground of all other genes in the genome. Individuals differ on average by one base per thousand in their DNA. This amounts to three million bases over the entire genome. As each gene is at least a thousand bases in length, it means that every gene will most probably be different. Assuming that only two variants exist in each gene, the number of different genotypes is already 3(100 000). In fact, hundreds of variants are typically found for each gene. Consequently, every individual is genetically unique, except for identical twins at the beginning of development, before different genetic mutations can accumulate in each of the pair. That is why it is generally impossible to give accurate prognosis of even single gene diseases unless the genetic background is homogenous, as in an inbred laboratory strain of mice. And even then, the mice have to be raised in a uniform environment. It is difficult to see any definite strategy within either bioinformatics or proteomics that can pay off, either in terms of basic understanding the human organism as a whole, or in terms of miracle cures and wonder drugs. There is nothing beyond the proliferation of more and more detailed information on genes and proteins that have been spilling out of the pages of scientific journals for the past decade. The one million proteins encoded by the 100 000 genes interact with one another, with the genes themselves, and small molecular weight ‘cofactors’ and ‘messengers’. Those interactions vary in different cells and tissues at different times, subject to feedback from the environment. Feedback from the environment can alter the genes themselves, and hence the entire cascades of interactions involved. All that is the reality of the fluid and adaptable genome (11), which the moguls of genomics and bioinformatics have yet to come to grips with. The prospect of understanding the human being by a detailed description of its molecular parts is essentially nil. This reductionist fallacy has been exposed in different forms, starting with the physicist Walter Elsasser (22). http://www.i-sis.org.uk/humangenome.php Also read " From Genomics to Epigenomics " Decades of sequencing and dissecting the human genome have confirmed that the real causes of ill health are environmental and social It is not the genetic messages encoded in genomic DNA but environmentally-induced epigenetic modifications that overwhelmingly determine people’s health and well-being Dr. Mae-Wan Ho http://www.i-sis.org.uk/fromGenomicsToEpigenomics.php The “genomics medicine” that never was nor will be By September 2008, B. Goldstein at Duke University, a leading young population geneticist known partly for his research into the genetic origins of the Jews, said the effort to pin down disease susceptibility genes is not working. There is absolutely no question that for the whole hope of personalized medicine, the news has been just about as bleak as it could be,” he told the New York Times [5]. The HapMap and other techniques developed to make sense of the human genome was a “tour de force”, but has produced only a handful of genes accounting for very little in explaining genetic predisposition to diseases: for schizophrenia and bipolar disorder, almost nothing, for type 2 diabetes, 20 variants that explain only 2 to 3 percent of familial clustering, and so on. The reason for this disappointing outcome, in his view, is that natural selection has been far more efficient at eliminating disease-causing variants than people thought, so these variants are rare. It takes large, expensive studies with hundreds of patients in different countries to find even common disease variants, so rare variants are simply beyond reach. It’s an astounding thing,” said Goldstein, “that we have cracked open the human genome and can look at the entire complement of common genetic variants, and what do we find? Almost nothing. That is absolutely beyond belief.” Goldstein is not alone in this bleak assessment of genomics. Concern has been raised for several years over commercially available gene tests offered to consumers, especially ‘predictive genomic profiling’ testing for variants in different combinations of genes for risks to illnesses such as lung cancer, type 2 diabetes or cardiovascular disease that are supposed to give people personalised nutrition and other life-style health recommendations. Recently, researchers at Erasmus MC University Medical Center Rotterdam in The Netherlands critically appraised these genomic profiling now offered online by at least seven companies testing for variants in 56 genes. For 24 of the genes, there were no available studies to show that the profiling was useful in the general population. Of the remaining, only variants in 25 genes showed significant associations with risks in 28 diseases, but the associations were generally modest, and many of associations were with diseases unrelated to the condition for which the profiling was intended [10]. These weak associations most certainly do not mean that people carrying ‘high’ risk variants will definitely develop the disease, nor do they give licence to those carrying ‘low’ risk variants to adopt unhealthy lifestyles with impunity. As one critic commented [11], the genetic information provided by such direct to consumer genomics is “nearly all, to varying degrees, inaccurate, misleading or merely useless.” The real reasons genomics profiling fail, however, is not due to lack of data, or that natural selection is so effective in eliminating deleterious variants. It is the genomics project itself that is misguided. There are 4 different types of genetic disorders. One of them is called a single-gene disorder and it will affect 1 in every 200 babies born here in the U.S. There are more than 6,000 known single-gene disorders! Maybe this why the government is now collecting our newborn babies' DNA? Not to help us of course, but maybe figure out a way to make some money in the process? The state of Minnesota has actually been collecting and storing this DNA illegally since 1997!! http://tinyurl.com/cnu5ff http://tinyurl.com/8dyv56 http://tinyurl.com/ajpw2c I would like to see the rate of genetic disorders in the U.S. compared to that of non-industrialized and non-vaccinated nations! This could explain why the U.S. is giving " free " vaccines to third world countries too. ------------------------------------ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 31, 2009 Report Share Posted January 31, 2009 This spin has long since been debunked. Ingrid " The fallacy of genetic determinism is widely recognized (18). Genuine genetic diseases that can be attributed to single genes constitute less than 2% of all diseases. And more and more geneticists are coming around to the view that even those are subject to so many other genetic and environmental influences that there is simply no such thing as a single-gene condition. For the rest, the association between the condition and the specific genes or genetic markers reduces to tenuous ‘predispositions’ or ‘susceptibility’ (see above). ‘Predipositions’ to cancer for example, conceals the fact that important environmental factors are left out of consideration. These include the hundreds of acknowledged industrial carcinogens polluting our environment. It is well-known that the incidence of cancer increases with industrialization and with the use of pesticides. Women in non-industrialized Asian countries have a much lower incidence of breast cancer than the women living in the industrialized west. However, when Asian women emigrate to Europe and the United States, their incidence of cancer jumps to that of the white European women within a single generation. Similarly, when DDT and other pesticides were phased out in Israel, breast cancer mortality in pre-menopausal women dropped by 30%. The overwhelming causes of ill-health are environmental and social. That is the conclusion of a growing body of research findings. Environmental influences swamp even large genetic differences. The genetic determinist approach of the human genome programme is pernicious because it diverts attention and resources away from addressing the real causes of ill-health, while at the same time stigmatizing the victims and fueling eugenic tendencies in society. The health of nations will be infinitely better served by devoting resources to preventing environmental pollution and to phasing out agrochemicals, rather than by identifying all the genes that ‘predispose’ people to ill-health. The UK Royal Society produced a report in July, calling for national and international coordination to deal with the dangers posed to humans and wildlife by endocrine-disrupting chemicals, substances thought to mimic or block natural hormones in amounts too minute to trigger a conventional toxic response (19). But it is the inherent complexity of the human organism and the lack of a concept of the organism as a coherent whole that will continue to frustrate all attempts at understanding health and disease within the dominant, reductionist framework. Despite the almost weekly hype on cancer cures, there is none, or none that has resulted from information on genes and gene sequences. As mentioned earlier, some 50 000 genes have been identified that are active in one or more cancers using the Gene Chip, which is half of the maximum number of gene predicted in the human genome! In principle, knowing the genes that are over-expressed or inactive in individual cancers can allow specific genes to be targeted. But this is no different from interventions that have previously been available to single-gene defects such as sickle cell anaemia or cystic fibrosis, none of which has been cured as a result; which is why gene therapy has been attempted, equally to no avail so far. One obstacle to effective cure is that it is impossible to avoid unintended ‘side-effects’ in a system where proteins interact with one another and with the genes. But the main problem is the failure to recognize that just as health is a property of the organism as whole, so too is disease. To try to understand disease in terms of genes and protein interactions is worse than trying to understand how a machine works in terms of its nuts and bolts, simply because the parts of the organism, unlike those of a machine, are inseparably tangled up with one another. Mechanistic understanding in terms of interacting parts is extremely unlikely to lead to the design of better drugs. For that, we require knowledge of the design of the human organism. And no amount of information on genes and protein interactions will ever add up to the complex, entangled whole that is the organism. The promise of customized medicine and prescribed lifestyle based on an individual’s genetic makeup is a pipe-dream. The effect of each gene depends not only on external environmental factors, but on the genetic back-ground of all other genes in the genome. Individuals differ on average by one base per thousand in their DNA. This amounts to three million bases over the entire genome. As each gene is at least a thousand bases in length, it means that every gene will most probably be different. Assuming that only two variants exist in each gene, the number of different genotypes is already 3(100 000). In fact, hundreds of variants are typically found for each gene. Consequently, every individual is genetically unique, except for identical twins at the beginning of development, before different genetic mutations can accumulate in each of the pair. That is why it is generally impossible to give accurate prognosis of even single gene diseases unless the genetic background is homogenous, as in an inbred laboratory strain of mice. And even then, the mice have to be raised in a uniform environment. It is difficult to see any definite strategy within either bioinformatics or proteomics that can pay off, either in terms of basic understanding the human organism as a whole, or in terms of miracle cures and wonder drugs. There is nothing beyond the proliferation of more and more detailed information on genes and proteins that have been spilling out of the pages of scientific journals for the past decade. The one million proteins encoded by the 100 000 genes interact with one another, with the genes themselves, and small molecular weight ‘cofactors’ and ‘messengers’. Those interactions vary in different cells and tissues at different times, subject to feedback from the environment. Feedback from the environment can alter the genes themselves, and hence the entire cascades of interactions involved. All that is the reality of the fluid and adaptable genome (11), which the moguls of genomics and bioinformatics have yet to come to grips with. The prospect of understanding the human being by a detailed description of its molecular parts is essentially nil. This reductionist fallacy has been exposed in different forms, starting with the physicist Walter Elsasser (22). http://www.i-sis.org.uk/humangenome.php Also read " From Genomics to Epigenomics " Decades of sequencing and dissecting the human genome have confirmed that the real causes of ill health are environmental and social It is not the genetic messages encoded in genomic DNA but environmentally-induced epigenetic modifications that overwhelmingly determine people’s health and well-being Dr. Mae-Wan Ho http://www.i-sis.org.uk/fromGenomicsToEpigenomics.php The “genomics medicine” that never was nor will be By September 2008, B. Goldstein at Duke University, a leading young population geneticist known partly for his research into the genetic origins of the Jews, said the effort to pin down disease susceptibility genes is not working. There is absolutely no question that for the whole hope of personalized medicine, the news has been just about as bleak as it could be,” he told the New York Times [5]. The HapMap and other techniques developed to make sense of the human genome was a “tour de force”, but has produced only a handful of genes accounting for very little in explaining genetic predisposition to diseases: for schizophrenia and bipolar disorder, almost nothing, for type 2 diabetes, 20 variants that explain only 2 to 3 percent of familial clustering, and so on. The reason for this disappointing outcome, in his view, is that natural selection has been far more efficient at eliminating disease-causing variants than people thought, so these variants are rare. It takes large, expensive studies with hundreds of patients in different countries to find even common disease variants, so rare variants are simply beyond reach. It’s an astounding thing,” said Goldstein, “that we have cracked open the human genome and can look at the entire complement of common genetic variants, and what do we find? Almost nothing. That is absolutely beyond belief.” Goldstein is not alone in this bleak assessment of genomics. Concern has been raised for several years over commercially available gene tests offered to consumers, especially ‘predictive genomic profiling’ testing for variants in different combinations of genes for risks to illnesses such as lung cancer, type 2 diabetes or cardiovascular disease that are supposed to give people personalised nutrition and other life-style health recommendations. Recently, researchers at Erasmus MC University Medical Center Rotterdam in The Netherlands critically appraised these genomic profiling now offered online by at least seven companies testing for variants in 56 genes. For 24 of the genes, there were no available studies to show that the profiling was useful in the general population. Of the remaining, only variants in 25 genes showed significant associations with risks in 28 diseases, but the associations were generally modest, and many of associations were with diseases unrelated to the condition for which the profiling was intended [10]. These weak associations most certainly do not mean that people carrying ‘high’ risk variants will definitely develop the disease, nor do they give licence to those carrying ‘low’ risk variants to adopt unhealthy lifestyles with impunity. As one critic commented [11], the genetic information provided by such direct to consumer genomics is “nearly all, to varying degrees, inaccurate, misleading or merely useless.” The real reasons genomics profiling fail, however, is not due to lack of data, or that natural selection is so effective in eliminating deleterious variants. It is the genomics project itself that is misguided. There are 4 different types of genetic disorders. One of them is called a single-gene disorder and it will affect 1 in every 200 babies born here in the U.S. There are more than 6,000 known single-gene disorders! Maybe this why the government is now collecting our newborn babies' DNA? Not to help us of course, but maybe figure out a way to make some money in the process? The state of Minnesota has actually been collecting and storing this DNA illegally since 1997!! http://tinyurl.com/cnu5ff http://tinyurl.com/8dyv56 http://tinyurl.com/ajpw2c I would like to see the rate of genetic disorders in the U.S. compared to that of non-industrialized and non-vaccinated nations! This could explain why the U.S. is giving " free " vaccines to third world countries too. ------------------------------------ Quote Link to comment Share on other sites More sharing options...
Recommended Posts
Join the conversation
You are posting as a guest. If you have an account, sign in now to post with your account.
Note: Your post will require moderator approval before it will be visible.