Guest guest Posted November 12, 2009 Report Share Posted November 12, 2009 I have a 3year and 3 month old adopted daughter who has speech delays. She began talking at a normal time and lost all words at 18months. She has undergone every imaginable test and has had Autism ruled out three separate times. She has some emerging verbal skills now after intensive SL therapy in fact she just said her first sentence last week. I feel we are on the right track, but was curious she also has quite a few other developmental delays that she receives OT for. Have any of you received a genetic diagnoses for your child with severe language delays? Thanks, Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 12, 2009 Report Share Posted November 12, 2009 My 8dd with severe apraxia has one confirmed genetic chromosome deletion and a second syndrome pending bloodwork. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 12, 2009 Report Share Posted November 12, 2009 I will try to remember to post when I get them back but we've had quite a lot of genetics done. The first batch all came back negative. This panel we just did was super expensive (like $3 K) and is supposed to cover just about everything. We havent' got the results back yet. I asked a question similar to yours a while back and the one thing someone told me is that a lot of kids with apraxia have FOXP2. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 12, 2009 Report Share Posted November 12, 2009 Was the chromosome deletion identified with a microarray analysis test? My son has had many tests, including Fragile X, chromosome analysis and microarray analysis but all have come back negative. My husband had speech issues until about third grade; I am hoping that my son has exactly what my husband had because he has no problems with speech. Our son is 3 yrs, 8 months and has made tremendous progress in the last few months. I attribute his progress to therapy, fish oil, prayer, and lots of patience. He is not where he should be for his age but he is certainly improving. I think we have ruled out everything except apraxia and are working to help him the best that we can. I am so glad I found this group because it has been so helpful to me. When I first learned about six months ago that my son had apraxia, I had a nervous break down. I am trying to keep myself together and learn the best way to help my baby and this has been a wonderful resource. Sorry for the rambling and thanks. From: mosense <mosense@...> Subject: [ ] Re: genetics? Date: Thursday, November 12, 2009, 6:01 PM  My 8dd with severe apraxia has one confirmed genetic chromosome deletion and a second syndrome pending bloodwork. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 13, 2009 Report Share Posted November 13, 2009 Our son lost his words at age 26 months and has not recuperated them. He continues to be non-verbal (almost 12 years old). He has Sotos syndrome which is genetic BUT most of the kids with this syndrome speak (a few are non-verbal like him). > > I have a 3year and 3 month old adopted daughter who has speech delays. She began talking at a normal time and lost all words at 18months. She has undergone every imaginable test and has had Autism ruled out three separate times. She has some emerging verbal skills now after intensive SL therapy in fact she just said her first sentence last week. I feel we are on the right track, but was curious she also has quite a few other developmental delays that she receives OT for. Have any of you received a genetic diagnoses for your child with severe language delays? > Thanks, > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 13, 2009 Report Share Posted November 13, 2009 My daughter was absolutely perfect to look at, but speech just didn't develop. We went for speech and she kept coming along. The neurologist told us " she would grow up to be fine; not a doctor, but fine. " Funny things did not change. We received speech, OT, PT, vision therapy. She has always progressed, but slowly. Doctor after doctor told us she didn't have autism, and now I suppose that is true. Annie had a skin biopsy done 6 months ago to test for energy production in the cells. Given the chance please don't wait. I would have given my right arm to get this info when she was little. After 13 1/2 long years our geneticist at the Cleveland Clinic told us she has a slight pyruvate hydgrogenase deficiency. I believe that is a disturbance in the energy cycle. Now we are on the right path for help, and she is improving. We are getting her body prepared to chelate. I am so excited for her. She has apraxia, and that is so similar to autism. They did us no favors by never offering anything. Thanks God for all these wonderful parents, who helped me learn how to help my own child. I wish you the best of luck. Mom of Annie 13 > > I have a 3year and 3 month old adopted daughter who has speech delays. She began talking at a normal time and lost all words at 18months. She has undergone every imaginable test and has had Autism ruled out three separate times. She has some emerging verbal skills now after intensive SL therapy in fact she just said her first sentence last week. I feel we are on the right track, but was curious she also has quite a few other developmental delays that she receives OT for. Have any of you received a genetic diagnoses for your child with severe language delays? > Thanks, > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 13, 2009 Report Share Posted November 13, 2009 My daughter's language delays led us to do genetic testing and we have a diagnosis now. 22q11.2 deletion syndrome. > > I have a 3year and 3 month old adopted daughter who has speech delays. She began talking at a normal time and lost all words at 18months. She has undergone every imaginable test and has had Autism ruled out three separate times. She has some emerging verbal skills now after intensive SL therapy in fact she just said her first sentence last week. I feel we are on the right track, but was curious she also has quite a few other developmental delays that she receives OT for. Have any of you received a genetic diagnoses for your child with severe language delays? > Thanks, > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 13, 2009 Report Share Posted November 13, 2009 She had the very basic genetic testing done at birth, which came back " normal " . It wasnt until other issues started to come up that it was suggested we see a genetics specialist. Honestly---I dont know what a microarray analysis test is? Hers come from bloodwork. Thats where the deletion on Chromosome 2 was found. The genetics dr--head of the dept at a nyc hospital-- said he sees enough kids with her type of deletion that it made him notice! He also said a lot of them have some of her same facial features. She's a beutiful girl, which I hear all the time--just some of her features that he's seen in the other kids. No one with an untrained eye would notice what he does. The original testing was done when she was a baby in 2003 or so. We went back to him this past summer and we had more blood taken since the technology has improved so much even in the past 5-6 years that they can examine the deletion even better now. Also my husband and I and my youngest son were tested for what she has and its not hereditary. I didnt have my oldest tested--they only recommend testing kids that come after her. Thats all in consideration of their future insurance coverage. Its better if its not in their records they have a sister with a chromosome abnormality. > > Was the chromosome deletion identified with a microarray analysis test? Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 13, 2009 Report Share Posted November 13, 2009 I am sorry for those experiencing true identifiable genetic problems that are suspected to be the cause of their speech regression or lack of speech. But keep in mind that it may not necessarily be so, at least not directly and not inevitably. What I urge every parent to keep in mind is that just because there is a known genetic factor that is often associated with a particular disorder it does NOT mean that it has to be so. the same mechanisms that affect the kids without a genetic disorder, could be at play and that genetic disorder may not lead directly to brain damage that causes lack of speech, but may make their bodies and brains more vulnerable to toxins and other environmental factors and then those in turn trigger the particular brain damage. take Down Syndrome for example. oI t is a know chromosomal abnormality that affects children of older moms in particular, dads too it now seems with more research bringing this fact out--and that too means more toxins from the parent, but regardless, these kids with DS have wel know metabolic problems and detoxification problems, many of them develop autism-like-symptoms--and even ahve apraxia. proably many more than identified becuase often the medicla proffessionals just dismiss their lack of speech as part of the syndrome--but I urge yoyu all to understand that it DOESN " T HAVE TO BE. These kids are just more vulnerable to toxins and in effect they prove the point for the rest who do not have DS and are autistic--same symptoms for the most part, same neurological disorders --speech, OT needs etc. DS kids develop into adults with metabolic problems and sadly in their 30's even develop Alzheimer's--another neurological disorder associated with brain toxicity and metabolic problems. So it is possible that the genetic disorders do not automatically lead to brain damage, but lead to increased vulnerability to environmental conditions that then lead to brain damage. this is well known in the literature for certain metabolic conditions which are severe, galactosemia --intolerance to a protein galactose found in any form of animal milk--even the mother's own--leads to severe problems, failure to thrive, eventually organ failure too and death if the problem is not identified in time, mental retardation and yes--even apraxia--that's why they test for it at birth--the heal prick test. Than there's PKU --again protein malabsorption that leads to mental retardation and organ damage etc. So these are classic well known examples in the literature , where metabolic problems lead to neurological problems, why the clinical practices do not yet want to put two and two together and understand that these things happen to a lesser degree in other people with certain genetic susceptibilities and most likely as a result of increased toxicity on the body which then kind of triggers certain gene mutations and a vicious cycle of malabsorptions and opportunistic infections kind of set the fate of that patient, but the process is very similar. Anyway I've been chiming about this a lot lately on this list as I think it is important for parents to have access to information and think outside the box to find the right answers for their children's disorders. Just keep in mind that al of this is new and tons of research is carried out, the neuroscience/microbiology research is often there, describes the exact mechanisms, but the clinical practice is decades behind unfortunately. i coresponded with amom on another list and she told nme she understnads how biomed can help some children becuase they have minor issues to dela with, but her child has a gfenetic defect--and she didn't even tell me what it was but she said that was what was causing her apraxia and other problems and so biomed was not a solution for her. It pained me deeply to see how she had just aqccepted this as her fate and was refusing to understnad that nothing is written in stomne and absolute, we cna always optimize our children's neurologicla functioning and those with known genetic defects most likley stand to benefit even more from such investigations. those genetic problems make them more sensitive to environmental factors and those in turn can trigger the metabolic and neurological problems they are experiencing and which are cited in the medical literature as being part of the syndrome. just becuase they are seen in those patients does not mean the genetic syndrome itself directly causes it, there are many factors to consider and there is much hope if you are willing to read and learn and identify the right medicla professionals. To me the DS example I mentioned clearly shows that DS kids --besides their obvious organ problems and other issues, also have neurological differences but it is not clear at all that those are a given or that they are affected by environmental factors more so than for the rest of the population. The correlation of DS with autism and apraxia clearly supports my argument and there is I am sure research that makes this connection. Hope this helps those struggling with genetic issues to think outside the box and NOT take any genetic diagnosis as a life long dooming sentence. it doesn't have to be, it just means you have to work harder to identify your child's particular vulnerabilities and work to remove what does not belong in that child's body--this can be toxins, heavy metrals or other things even foods tha tthe body cannot break down can become toxic--as it does for these kids with severe metabolic problems but there are also those woith less severe or at least not as immediately obvious symptoms--gluten for example acts as a neurotoxin in individuals with certain genetic traits (all of which have not yet been identified so genetic testing while informative if positive does not rule out the possiblity of neurological and autoimmune damage from gluten because there are plenty of other genes that may not yet be identified. this science is just emerging. So the elimination diet is the best way to determine plus looking at the child as a whole , family history, symptoms, muscle tone, speech, developmental strengths /weaknesses etc. So again, genetic testing is useful, but not conclusive. For some it can save lives, but for others, if interpreted as this rules out the X possibility--it may not be so, and more investigations into metabolic processing are warranted. Anyway, hope this helps and good luck to all. Above all, do not EVER no matter what your child's diagnosis or genetic test reveals give up and think there is nothing you can do but therapy and prayer. We can always optimize immune and neurological function and this cna make a world of difference genetic differences or not. Do not let doctors give your child what seems like a life long " no life sentence " - it doesn't ahve to be that way--i learned just recently of an adopted child who has severe MR seizures, was abandoned by birth mom and foster mom adopted him and is struggling with HUGE problems just to keep him alive and safe, and he has now made it to 16 years when at 2 the doctors wrote him off as not reaching his 3rd year. This amazing mom took charge nad saught biomedicla interventions to optimize his immune sytem and neurological functioninjg and he's surviving and doing well. Still needs his respirator and is wheal chair bound but is developing well otherwise, likes to go to school and be with peers enbjoying lkife and his mom did it all with special katog4enic diet for his epileptic seizures and supplements and lots of support and love--but he';s enjoying life and she made it possible because she did not believe the doctors when they said there was nothing that could be done. She did it!! I know this is extreme, but all kids with neurological problems have lesser degrees of metabolic and neurological damage and we must work with the right professionals to figure it out--regardless of their genetics and diagnosis and all that. It is symptom based and you work to optimize the body and the brain's functioning. But mainstream medicine does not typically do that, they just suppress symptoms with drugs. There's so much hope, just seek and learn and you'll find a way... All the best, Elena From: hubby4kids <hubby4kids@...> Subject: [ ] Re: genetics? Date: Friday, November 13, 2009, 7:48 AM Our son lost his words at age 26 months and has not recuperated them. He continues to be non-verbal (almost 12 years old). He has Sotos syndrome which is genetic BUT most of the kids with this syndrome speak (a few are non-verbal like him). > > I have a 3year and 3 month old adopted daughter who has speech delays. She began talking at a normal time and lost all words at 18months. She has undergone every imaginable test and has had Autism ruled out three separate times. She has some emerging verbal skills now after intensive SL therapy in fact she just said her first sentence last week. I feel we are on the right track, but was curious she also has quite a few other developmental delays that she receives OT for. Have any of you received a genetic diagnoses for your child with severe language delays? > Thanks, > > ------------------------------------ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 14, 2009 Report Share Posted November 14, 2009 Yes, we should never give up. It is difficult, however, to know how much to try and when to pass. I read many books, took 5 day courses, tried diet, chelation, biomed, tomatis, homeopathy, flew our son to institutes/therapies across the country and more. Improvement has been slight but hardly can credit be given to any of those attempts. Am I glad we tried all that? Yes! Would I recommend others do it? No. How can I recommend these things when it didn't work for our son?! Basically we're now doing our own version of therapy, using our better judgment and feel best about it. I read what others are trying or are suggesting and either I've BTDT or if I haven't, I am skeptical. So many books written to say " this was key for our child's development " and we give it a try, spending loads of money and time thinking it will do the same for our child, but to no avail. I am not saying you shouldn't try many things but, in the case of our son (age 12), we are more on the other side of it all - having tried so much that we now prefer to go with our own instincts. Have we given up? No way! We will always work to help our son develop but probably never go the " alternative medicine " route again. > > > > I have a 3year and 3 month old adopted daughter who has speech delays. She began talking at a normal time and lost all words at 18months. She has undergone every imaginable test and has had Autism ruled out three separate times. She has some emerging verbal skills now after intensive SL therapy in fact she just said her first sentence last week. I feel we are on the right track, but was curious she also > has quite a few other developmental delays that she receives OT for. Have any of you received a genetic diagnoses for your child with severe language delays? > > Thanks, > > > > > > > > > ------------------------------------ > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 14, 2009 Report Share Posted November 14, 2009 I'm sure you mean well in your genetic theories...but they just dont make sense? We dont just blindly medicate our children because the almighty-doctor commanded us to do so! Every parent struggles with that decision. Not one doctor has ever suggested that I medicate my daughter. Her genetics doctor did not give her a death sentence when he gave us a very minor reason and explanation for her challenges. He told us--this doesnt change what you're already doing for her and they know there is always more I can do for her. They are not decades behind in their research and practices--while yours are years and years ahead of everyone and every doctor. I'm pretty sure--but I'm not a doctor--that my dd genetic issues happened at conception? Not as a result of " increased toxicity on the body which > then kind of triggers certain gene mutations and a vicious cycle of malabsorptions " ???? The heal prick test done at birth is not for an intolerance to milk and thats not what galactosemia is defined as. The neonatal heel prick is a common procedure for taking a blood sample from the heel of newborn infants. A pinprick puncture is made in the heel of the infant's foot, and blood from the foot is soaked into pre-printed collection cards known as Guthrie cards.[1] The blood samples can be used for a variety of genetic tests, including: Thyroid stimulating hormone (TSH) to detect hypothyroidism and hence prevent cretinism. Trypsin to detect cystic fibrosis. Detection of phenylketonuria, an enzyme deficiency that can impair brain development. Other potential tests include: A test for galactosemia It is recommended that the screening test be performed when the infant is between 48 and 72 hours of age. False positives and negatives can sometimes occur when the screening tests are performed before 48 hours.[2] With genetic tests becoming more common, a wide variety of tests may use the blood drawn by this method. Many neonatal units (SCBUs) now use this method to carry out the daily blood tests (blood count, electrolytes) required to check the progress of ill neonates. In the UK the NHS test for: Hypothyroidism Cystic fibrosis Phenylketonuria (PKU) Medium Chain Acyl Co-A Dehydrogenase Deficiency (MCADD) Sickle Cell [3] Galactosemia is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Galactosemia should not be confused nor related to Lactose-Intolerance. Galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galactose degradation. Goppert first described the disease in 1917,[1] with its cause as a defect in galactose metabolism being identified by a group led by Herman Kalckar in 1956.[2] Its incidence is about 1 per 60,000 births (classic type). It is much rarer in Japan and much more common in Italy, specifically the traveler region. Galactosemia is also very common within the Irish Traveller population. This is attributed to consanguinity within a relatively small gene pool.[citation needed] Classic Galactosemia is a rare genetic metabolic disorder. The child with classic galactosemia inherits a gene for galactosemia from both parents, who are carriers. Patients who inherit the classic galactosemia gene from each parent are sometimes described as having the genetic makeup " G/G " . Normally when a person consumes a product that contains lactose (e.g., dairy products such as milk, cheese, butter), the body breaks the lactose down into galactose and glucose. Glucose is the sugar used by the body for energy. Galactosemia means too much galactose in the blood caused by the individual " missing " the enzyme (known as GALT) to convert galactose into glucose. This accumulation of galactose is a poison to the body and can cause serious complications such as the following and if untreated, as high as 75% of infants will die: * an enlarged liver * kidney failure * cataract * brain damage Diagnosis is made usually within the first week of life by blood test from a heel prick as part of a standard newborn screening. Treatment requires the strict exclusion of lactose/galactose from the diet. Although galactosemic children are started on diet restriction at birth, there continues to be a high incidence of long-term complications involving speech and language, fine and gross motor skill delays and specific learning disabilities. Ovarian failure may occur in girls. Prenatal diagnosis by amniocentresis is also available. > > I am sorry for those experiencing true identifiable genetic problems that are suspected to be the cause of their speech regression or lack of speech. But keep in mind that it may not necessarily be so, at least not directly and not inevitably. > > > this is well known in the literature for certain metabolic conditions which are severe, galactosemia --intolerance to a protein galactose found in any form of animal milk--even the mother's own--leads to severe problems, failure to thrive, eventually organ failure too and death if the problem is not identified in time, mental retardation and yes--even apraxia--that's why they test for it at birth--the heal prick test. > > Than there's PKU --again protein malabsorption that leads to mental retardation and organ damage etc. So these are classic well known examples in the literature , where metabolic problems lead to neurological problems, why the clinical practices do not yet want to put two and two together and understand that these things happen to a lesser degree in other people with certain genetic susceptibilities and most likely as a result of increased toxicity on the body which > then kind of triggers certain gene mutations and a vicious cycle of malabsorptions and opportunistic infections kind of set the fate of that patient, but the process is very similar. > >Just keep in mind that al of this is new and tons of research is carried out, the neuroscience/microbiology research is often there, describes the exact mechanisms, but the clinical practice is decades behind unfortunately. > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 14, 2009 Report Share Posted November 14, 2009 Hi , My son has apraxia as part of a microdeletion on chromosome 17p11.2. You can find out more about it at www.PRISMS.org. There are many microdeletion syndromes being discovered, many more yet to be discovered. I think the microarray test is the most successful at discovering many of these. Just FYI, many kids with microdeletions have " normal chromosomes " on amniocentesis. Your best bet is to find a good geneticist to help you sort things out. Good Luck. Gretchen > > I have a 3year and 3 month old adopted daughter who has speech delays. > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 23, 2009 Report Share Posted November 23, 2009 Guys: About the EMLA cream. We were given the advice to use this also, and got an Rx from our doc when we had a pretty big blood draw a couple of weeks ago. We applied to both arms, wrapped in saran wrap, etc. and when we arrived at the Children's Hospital (cincinnati) the lab tech saw my son (2 yrs old) and said " Oh no. " What? She saw the arms and said even though the EMLA cream can help numb the area, it constricts the blood vessels and makes it more difficult to find the vein, easier for the vein to blow, and take longer to get the blood out. My son is so young, he still screamed the entire time, so I can't say whether or not it helped...figure he would've screamed regardless. However, just something to note as you go in to this. I'm not a doc so have no idea if the info about constriction is 100% accurate or not, but just passing along our experience. Hopefully the cream works great for you! Sharon > > > > Thanks for the information. My son has an extreeeme fear of needles and we > > cannot get anyone to easily draw blood. What is the method you have used? > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 24, 2009 Report Share Posted November 24, 2009 Vasoconstriction is a possible side effect. If it does happen, have the phlebotomist put a warm pack on the area....that usually does the trick. Honestly, my son hates the tourniquet more than the needle poke, so we don't use Emla cream. -Jenna Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 25, 2009 Report Share Posted November 25, 2009 When I asked the Pediatrician for the Emla cream for a blood draw-they said they've seen too many kids have skin reactions after. they also said that it doesnt really lessen the pain--maybe a little of the needle going in but not of the blood draw itself. The skin reactions doesnot seem worth it for a couple minutes. They did use it this summer when we went to the hosptial for an MRI this summer--but they are doing IV's so they might want anything to help the kids feel better. > > Vasoconstriction is a possible side effect. If it does happen, have the phlebotomist put a warm pack on the area....that usually does the trick. Honestly, my son hates the tourniquet more than the needle poke, so we don't use Emla cream. > -Jenna > Quote Link to comment Share on other sites More sharing options...
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