Guest guest Posted November 6, 2004 Report Share Posted November 6, 2004 Shelli - at this point genetic testing is for XLA or Bruton's disease and x-linked Hyper IgM. Some SCID variants can be tested for but the b-cell PID's aren't able to be tested for. Hopefully more research will be done and one day soon the information will be found that helps us test for these diseases. Ursula Holleman mom to (11 yrs old) and Macey (9 yr. old with CVID, Diabetes Insipidus, colonic inertia) http://members.cox.net/maceyh Immune Deficiency Foundation - Peer Contact for GA http://www.primaryimmune.org IDF Patient/Family Handbook http://www.primaryimmune.org/pubs/book_pats/book_pats.htm / Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 6, 2004 Report Share Posted November 6, 2004 I was told that I could be tested to see if I carry the recessive or dominant gene or nothing at all that caused my son's iga def. Because if I was the dominant carrier, I wouldn't let myself get pregnant ever again, and if his dad and I both had the recessive gene that, well we are not together but then if I got married I would have my husband tested because I would not want to have any more kids if he was also carrying the recessive gene. > Shelli - at this point genetic testing is for XLA or Bruton's disease and > x-linked Hyper IgM. Some SCID variants can be tested for but the b- cell > PID's aren't able to be tested for. Hopefully more research will be done > and one day soon the information will be found that helps us test for these > diseases. > > Ursula Holleman > mom to (11 yrs old) and Macey (9 yr. old with CVID, Diabetes > Insipidus, colonic inertia) > http://members.cox.net/maceyh > > Immune Deficiency Foundation - Peer Contact for GA > http://www.primaryimmune.org > > IDF Patient/Family Handbook > http://www.primaryimmune.org/pubs/book_pats/book_pats.htm > > / Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 6, 2004 Report Share Posted November 6, 2004 Shelli - who told you this? Ursula Holleman mom to (11 yrs old) and Macey (9 yr. old with CVID, Diabetes Insipidus, colonic inertia) http://members.cox.net/maceyh Immune Deficiency Foundation - Peer Contact for GA http://www.primaryimmune.org IDF Patient/Family Handbook http://www.primaryimmune.org/pubs/book_pats/book_pats.htm / Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 6, 2004 Report Share Posted November 6, 2004 Ursula, my sons immunologist gave me a few numbers to call, one that I spoke to is a genetics counselor at 1-800-296-4433, right now I don't know what group that person was with. The man there said that they can do genetic research/testing for pretty much everything, he said they would be able to tell if I carry the gene and if so which type so I can make more informed decisions on family planning. It's not done to help with treatment if that is what you are meaning, like gene therapy, I am just talking about finding out who it came from, me, my ex or both. well I guess not just for my family planning, if it is a gene that I passed on then it gives my side of the family more reason to watch for the symptoms. I remember reading about it on the internet too and I just have been doing searching and found a lot of information on genetic testing and how many gene patterns they can identify, man it's so amazing! > Shelli - who told you this? > > Ursula Holleman Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 6, 2004 Report Share Posted November 6, 2004 Ursula, my sons immunologist gave me a few numbers to call, one that I spoke to is a genetics counselor at 1-800-296-4433, right now I don't know what group that person was with. The man there said that they can do genetic research/testing for pretty much everything, he said they would be able to tell if I carry the gene and if so which type so I can make more informed decisions on family planning. It's not done to help with treatment if that is what you are meaning, like gene therapy, I am just talking about finding out who it came from, me, my ex or both. well I guess not just for my family planning, if it is a gene that I passed on then it gives my side of the family more reason to watch for the symptoms. I remember reading about it on the internet too and I just have been doing searching and found a lot of information on genetic testing and how many gene patterns they can identify, man it's so amazing! > Shelli - who told you this? > > Ursula Holleman Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 7, 2004 Report Share Posted November 7, 2004 Shelli - please call the Immune Deficiency Foundation and ask to speak with Schweitzer (800-296-4433). She is their genetics counselor and also has CVID. If there is any type of genetic testing then I am unaware but would be the first to shout it from the rooftops. I just think you might be looking at spending unnecessary money or getting false hope when no genetic mutation is found on her test. Ursula Holleman mom to (11 yrs old) and Macey (9 yr. old with CVID, Diabetes Insipidus, colonic inertia) http://members.cox.net/maceyh Immune Deficiency Foundation - Peer Contact for GA http://www.primaryimmune.org IDF Patient/Family Handbook http://www.primaryimmune.org/pubs/book_pats/book_pats.htm / Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 7, 2004 Report Share Posted November 7, 2004 That is the same number I called, although not the person but the same number and it was a genetics counselor. My insurance covers any of the testing if I choose to get it and there is not false hope worries because if I got the testing, like I said before, it's not for treatment or anything, it's to find out where the gene came from, so I know if I will be risking having more children with this problem. I'd love to have my son's dad get tested also but he won't. They specifically told me that if they can identify the gene they can test for it in a person to see if they were the carrier and if so in what way. I remember him saying something about the number of gene mutations they can look for being in the 100's as far as immune problems go. and I did searches on google and and found tons of links pointing to the exact thing they told me when I called the number. are we even talking about the same things? I'm not looking for a treatment or a cure through this, it is strictly to see if I have the recessive or dominant gene or did it only come from his father. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 8, 2004 Report Share Posted November 8, 2004 I'm sorry your mom is like this. My parents are so supportive. That really helps. However, my husband's family is more like " you're overreacting, etc. " His mom has said Jake will outgrow this....But, when we heard about the positive herpes cultures and our ped wanting to send us to an infectious disease specialist in MPLS, my hubby didn't want me to paint " too bad a picture " for them. His family doesn't talk about a lot of this. I don't even know if his aunts and uncles are aware of any of this. If it's cancer or something like that, you can talk about it and people are real supportive, but many people just don't get this. I find that one of the hard things to deal with. Hang in there and rant to us anytime. Quoting Shelli <shelli_shell@...>: > > > > > > > > Has anyone done genetic testing to see what side of the family PID is > > coming from? > > > > > > I hadn't thought about doing this unless I had planned to have more > > kids. I am assuming it's more my side because everyone in my family > > gets sick a lot, in fact I have yet another ear infection right now. > > I was sick all of the time as a kid and the docs told my parents it > > was because I was a carrier of strep and that I just kept starting it > > and passing it on to my family. My mom seems to be sick all of the > > time and has thyroid problems and rheumotiod arthritis, my two > > brothers and my sister seem to also be sick with something non stop. > > my 11 year old brother has had several sets of pe tubes, adnoids > > removed, I am pretty sure his last year infection was a year ago. My > > 5 year old neice has had PE tubes twice, RSV, broncholitis several > > times, is sick with a cold or ear infections or croup several times a > > year. This goes on and on through my mothers parents, with the same > > things, more thyroid and arthritis issues, kidney diseases, blood > > disorders. My son's side of the family is never sick, aside from his > > paternal grandparents having diabetes. It could come from either of > > us but I just think with our history it's more likely to be on my > > side. The next time my neice is sick and goes to the doctor my > > sister is planning on bringing this to their attention. I told my > > brother and his wife about jack and all I said to them is that my SIL > > should mention it to her doc the next time she goes in for her > > pregnancy checkup, just so it's on the chart and they know about it > > in case they do have some problems with the baby. > > > > I just got off the phone with my mother who told me I should not be > > telling anybody about jack, that I should not tell them do not come > > over if they have a cold and that I should not say that what jack has > > is a genetic thing because she believes it is not, and that if it > > were it had to come from my ex's side of the family not ours. She > > firmly believes that all ear infections are caused by ultrasounds > > because she read it in an article so therefore all the doctors are > > wrong in saying that jack's iga def could possibly cause his EI's. > > She said she is going to tell my brother and my SIL that the doctors > > are mistaken about jack and they are not to tell the ob or the baby's > > future ped about it and she " banned " me from saying anything about it > > to my brother again.  > > > > grrrrrr! I want to choke her! this is the same woman who will smoke > > around the kids. what do you think about getting genetic testing > > done?? I wasn't going to do it unless more kids were a plan but now > > I am thinking I should do it just because if it is something on my > > side of the family then maybe they will have their kids checked when > > they are being sick as much as they are. > > > > sorry for the long rant but but I am furious that she tries to > > invalidate my kids illness. > > > > > > > > > > > > > > > > > > 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. > > > > To unsubscribe -unsubscribegroups (DOT) > > To search group archives go to: > /messages > > > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 25, 2004 Report Share Posted November 25, 2004 Hi! I can't remember if I had e-mailed my new address or not. Just in case, here it is again kmeyer1020sbcglobal.net I would like to start receiving mail at this new address since my old one will not be working shortly. Thanks a million! Happy Thanksgiving everyone! Lee Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 2, 2007 Report Share Posted May 2, 2007 Genetics can tell you how to safely detox, and how to correct the defect that allowed the toxicity to build up in the first place. Adrienne genetics testing what is the cost of the genetics testing (the one that Rich referes to) once you find out something, how is it useful, in my case I already know I am toxic from many things, so does knowing more specifically genetically speaking help anything? does it alter your treatment at all? does insurance pay for these tests thanks, amy This list is intended for patients to share personal experiences with each other, not to give medical advice. If you are interested in any treatment discussed here, please consult your doctor. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 28, 2008 Report Share Posted July 28, 2008 My son's doctor recommended genetics testing -- he has ppd-nos and apraxia. Has anyone done genetics testing? Is this a simple blood test? Are the parents' given blood tests as well? I just want to get an idea of what is involved so that I can decide if/when I will take my son. Thanks. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 29, 2008 Report Share Posted July 29, 2008 genetic testing is a simple blood test and the results took awhile- maybe 10 days- hope this helps- Charlotte **************Get fantasy football with free live scoring. Sign up for FanHouse Fantasy Football today. (http://www.fanhouse.com/fantasyaffair?ncid=aolspr00050000000020) Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 29, 2008 Report Share Posted July 29, 2008 It is just a blood test, but there will probably be more than one vial to collect. For testing like this..most likely be prepared for 4-6 vials. If if the tech doing the collecting is good- it goes very quick if they do it right! You would only be tested with your husband if they find something and want to find the source. If your child is at the age where they don't see it coming..it will be less stressful too. If they want it done..my advice is get it over with asap! > > My son's doctor recommended genetics testing -- he has ppd-nos and > apraxia. Has anyone done genetics testing? Is this a simple blood > test? Are the parents' given blood tests as well? I just want to get > an idea of what is involved so that I can decide if/when I will take my > son. Thanks. > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 29, 2008 Report Share Posted July 29, 2008 My son did, it was blood work and urine tests. Then a retest about 3 months later after the 1st results were in. It took 3 months to get all the results good luck !!! Alyssa **************Get fantasy football with free live scoring. Sign up for FanHouse Fantasy Football today. (http://www.fanhouse.com/fantasyaffair?ncid=aolspr00050000000020) Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 29, 2008 Report Share Posted July 29, 2008 They only did genetic testing on my son and they took 3 vials of blood. **************Get fantasy football with free live scoring. Sign up for FanHouse Fantasy Football today. (http://www.fanhouse.com/fantasyaffair?ncid=aolspr00050000000020) Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 30, 2008 Report Share Posted July 30, 2008 My son Noah had genetic testing done and we actually just got done with a visit to the Geneticist yesterday. They did find a micro deletion on a chromosome. This deletion is now known to have a link to autism. So for me it was a extremely valuable. Noah did have a number of different tests done that are considered genetic testing. The first one was done at the Nuro Dr. and that was a basic just look and see if all of the chromsomes look good or normal (very old testing). On that one everything came back normal. Then we had a fragile X, which is a good one to do for boys as it can lead to many issuse for them. Then there is the one that will look at each chromosome individually, it does take a long time to get the results back, but in my opinion the very best there is. It is called a micro array or a a-cgh or CGH. I hope that this will explain more to you. Odds are the Dr really wants the CGH done because of the pdd-nos. Good luck! Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 31, 2008 Report Share Posted July 31, 2008 What are they testing? There are several kinds of exams. They are mostly blood work but some involve x-rays too, among other things. Laimi From: lndching <lindaching@...> Subject: [ ] Genetics Testing Date: Tuesday, July 29, 2008, 2:37 AM My son's doctor recommended genetics testing -- he has ppd-nos and apraxia. Has anyone done genetics testing? Is this a simple blood test? Are the parents' given blood tests as well? I just want to get an idea of what is involved so that I can decide if/when I will take my son. Thanks. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 1, 2008 Report Share Posted August 1, 2008 I'm going to ask the neurologist myself since I am confused. I called the genetist's office (the one that the neuro recommended) to schedule an appointment and the receptionist told me that the doctor is a metabolic doctor. She says that he sees lots of patients on the ASD. [ ] Genetics Testing > > Date: Tuesday, July 29, 2008, 2:37 AM > > > > > > > My son's doctor recommended genetics testing -- he has ppd-nos > and > apraxia. Has anyone done genetics testing? Is this a simple > blood > test? Are the parents' given blood tests as well? I just want to > get > an idea of what is involved so that I can decide if/when I will > take my > son. Thanks. > > > > > > > > > > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 24, 2008 Report Share Posted August 24, 2008 Thank you for your reply -- this is very helpful information. My son has an appointment on Monday and of course I forgot to ask if it is okay for him to eat breakfast prior to the blood test. Does anyone on this list know? The appointment is in the morning but will be a 45 minutes drive away. Their office is not open during the time he eats breakfast so I cannot call. Sorry for this simple question but just want to make sure. Thank you. Re: [ ] Genetics Testing > My son Noah had genetic testing done and we actually just got > done with a visit to the Geneticist yesterday. They did find a > micro deletion on a chromosome. This deletion is now known to > have a link to autism. So for me it was a extremely valuable. > Noah did have a number of different tests done that are > considered genetic testing. The first one was done at the Nuro > Dr. and that was a basic just look and see if all of the > chromsomes look good or normal (very old testing). On that one > everything came back normal. Then we had a fragile X, which is a > good one to do for boys as it can lead to many issuse for them. > Then there is the one that will look at each chromosome > individually, it does take a long time to get the results back, > but in my opinion the very best there is. It is called a micro > array or a a-cgh or CGH. > I hope that this will explain more to you. Odds are the Dr > really wants the CGH done because of the pdd-nos. Good luck! > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 24, 2008 Report Share Posted August 24, 2008 Hi,  Josh has been through three rounds of genetic testing (he was adopted at age 4 days and the info we had on the birthmom was kind of unreliable, nothing known about birthdad - Josh is now 10yo) - nothing has shown in any of the testing. Anyhow, I do not recall that Josh had to fast prior to the blood tests for the genetics portions. He did have to fast for other blood tests (cholesterol, diabetes, etc.) but not genetics. Hope that helps.  Sherry and Josh From: lindaching@... <lindaching@...> Subject: Re: [ ] Genetics Testing Date: Sunday, August 24, 2008, 5:36 AM Thank you for your reply -- this is very helpful information. My son has an appointment on Monday and of course I forgot to ask if it is okay for him to eat breakfast prior to the blood test. Does anyone on this list know? The appointment is in the morning but will be a 45 minutes drive away. Their office is not open during the time he eats breakfast so I cannot call. Sorry for this simple question but just want to make sure. Thank you. Re: [childrensapraxiane t] Genetics Testing @groups. com > My son Noah had genetic testing done and we actually just got > done with a visit to the Geneticist yesterday. They did find a > micro deletion on a chromosome. This deletion is now known to > have a link to autism. So for me it was a extremely valuable. > Noah did have a number of different tests done that are > considered genetic testing. The first one was done at the Nuro > Dr. and that was a basic just look and see if all of the > chromsomes look good or normal (very old testing). On that one > everything came back normal. Then we had a fragile X, which is a > good one to do for boys as it can lead to many issuse for them. > Then there is the one that will look at each chromosome > individually, it does take a long time to get the results back, > but in my opinion the very best there is. It is called a micro > array or a a-cgh or CGH. > I hope that this will explain more to you. Odds are the Dr > really wants the CGH done because of the pdd-nos. Good luck! > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 24, 2008 Report Share Posted August 24, 2008 Hi, My son ate right before the took his blood. Actually he was drinking his milk while we were in doctor's office answering questions. Good Luck, Ketzie On Sun, Aug 24, 2008 at 6:36 AM, <lindaching@...> wrote: > Thank you for your reply -- this is very helpful information. > > My son has an appointment on Monday and of course I forgot to ask if it is > okay for him to eat breakfast prior to the blood test. > > Does anyone on this list know? The appointment is in the morning but will > be a 45 minutes drive away. Their office is not open during the time he eats > breakfast so I cannot call. Sorry for this simple question but just want to > make sure. > > Thank you. > > Re: [ ] Genetics Testing > < %40> > > > My son Noah had genetic testing done and we actually just got > > done with a visit to the Geneticist yesterday. They did find a > > micro deletion on a chromosome. This deletion is now known to > > have a link to autism. So for me it was a extremely valuable. > > Noah did have a number of different tests done that are > > considered genetic testing. The first one was done at the Nuro > > Dr. and that was a basic just look and see if all of the > > chromsomes look good or normal (very old testing). On that one > > everything came back normal. Then we had a fragile X, which is a > > good one to do for boys as it can lead to many issuse for them. > > Then there is the one that will look at each chromosome > > individually, it does take a long time to get the results back, > > but in my opinion the very best there is. It is called a micro > > array or a a-cgh or CGH. > > I hope that this will explain more to you. Odds are the Dr > > really wants the CGH done because of the pdd-nos. Good luck! > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 7, 2008 Report Share Posted September 7, 2008 Results for Genetics are not affected in any way by eating before the exam. They test chromosomes and genes. > Thank you for your reply -- this is very helpful information. > > My son has an appointment on Monday and of course I forgot to ask if it is > okay for him to eat breakfast prior to the blood test. > > Does anyone on this list know? The appointment is in the morning but will > be a 45 minutes drive away. Their office is not open during the time he eats > breakfast so I cannot call. Sorry for this simple question but just want to > make sure. > > Thank you. > > Re: [childrensapraxiane t] Genetics Testing > @groups. com<childrensapraxiane t%40groups. com> > > > My son Noah had genetic testing done and we actually just got > > done with a visit to the Geneticist yesterday. They did find a > > micro deletion on a chromosome. This deletion is now known to > > have a link to autism. So for me it was a extremely valuable. > > Noah did have a number of different tests done that are > > considered genetic testing. The first one was done at the Nuro > > Dr. and that was a basic just look and see if all of the > > chromsomes look good or normal (very old testing). On that one > > everything came back normal. Then we had a fragile X, which is a > > good one to do for boys as it can lead to many issuse for them. > > Then there is the one that will look at each chromosome > > individually, it does take a long time to get the results back, > > but in my opinion the very best there is. It is called a micro > > array or a a-cgh or CGH. > > I hope that this will explain more to you. Odds are the Dr > > really wants the CGH done because of the pdd-nos. Good luck! > > > > > > > > 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.