genetic testing

Discussion in 'General Parenting' started by Ktllc, Jun 14, 2011.

  1. Ktllc

    Ktllc New Member

    Does anyone have experience with genetic testing? It was suggested for our son but we said we would wait. Kind of thinking we don't need to know the cause of my son's issues. We are not looking to find why he is the way he is. But after reading about defferent topics (such Asperger's), it seems that genetic testing always come back as a clue to diagnosis. So now, I'm wondering if we should just go ahead with it. Our difficult child diagnosis is still quite uncertain, would genetic testing really help solve the puzzle?
  2. HaoZi

    HaoZi Guest

    We did it. My kid is a mutant, lol. Her abnormality is unmapped territory, but there are a number of things that can be picked up through genetic testing (including proclivities for certain kinds of cancer, so it a two-edged sword). If your insurance will cover it, I'd do it.
  3. keista

    keista New Member

    If insurance covered it, I'd probably do it as well. For most things, it will not give you a definitive answer, but a % of probability. It would give an idea of where to start looking, or what to watch our for in a diagnosis.
  4. SomewhereOutThere

    SomewhereOutThere Well-Known Member

    My son had a complete genetic screen. He has a few dysmorphic feataures and they wanted to see if had fetal alcohol syndrome or fragile X, Prader Wille or anything else that can be explained medically. Genetic testing will not show autistic spectrum (Aspergers included), ADHD, bipolar, etc. It is strictly for genetic differences and I thought it was worthwhile to rule things out, although my son's battery of tests came back negative. Some genetic disorders can be treated.
  5. Ktllc

    Ktllc New Member

    How about genetic testing and ODD? He was given that diagnosis twice (behavioral pediatrician and therapist) although therapist agrees it does not quite fit but is what seems to fit "best" for now (and she noted autistic traits). Or is there some other disorders that would create ODD and could be found with genetic testing?
  6. confuzzled

    confuzzled Member

    maybe they want to rule out things like fragile x--that would be picked up on genetic testing.

    i've done it for one of the two and it turned up nothing, but it also gave *ME* piece of mind to have another child, and not worry about passing something on. it would have been an added bonus to put a formal name to the diagnosis. when we did it, testing was in its infancy, and given the chance i'd consider revisiting it one last time since there have been SO many advancements in the last two decades. it wouldnt change anything, but it would be nice to know.

    in my opinion, its worth doing.

    either way, its a good idea to rule out as much as possible when looking at more subjective diagnosis's like spectrum disorders, even in the event that treatment remains the same.
  7. Marguerite

    Marguerite Active Member

    We had our boys tested for Fragile X. With hindsight, we shouldn't have bothered. Fragile X tends to have a different profile and is not generally associated with high IQ.

    A problem with genetic testing - they can only do it to look for specific things. It is not a cover-all screening. They can look for general chromosomal breaks, missing bits etc (macro malformations) but to look for specific faulty genes requires specific and far more expensive genetic testing, and only can deal with genes for which there is already a specific test. For example, you can't yet test someone's DNA to determine if they have blue eyes or red hair. You can't determine someone's blood group from genetic testing, not yet. Because there are easier tests as a rule for these things, nobody has bothered to go to the trouble to develop a genetic test. Why test the DNA for blue eyes if all you have to do is look? And blue eyes or not isn't vital information for someone's health.

    So don't go in expecting magic answers, or even comprehensive answers. The most they can tell you, is if your child's DNA is complete, or if there are bad breaks in the chromosomes which MIGHT explain things. Or it might not.

    A common thing in increasingly detailed medical testing - "seek and ye shall find". What I mean is, when you go digging, you find stuff. But is what you find relevant? Often it is not, but when you are looking, it is easy to 'blame' what you find, when it could be completely unrelated.

    For example, I had to have a chest X-ray before I started uni (a bit like blood tests before marriage - not something we've ever done here in Australia). In my case, the X-rays showed that I have a couple of vestigial ribs in my neck. They're not causing me any trouble. But if I had gone in with neck pain and had the X-ray, it would be easy for someone to say, "Aha! Those ribs must be causing the pain!" I have since had neck pain, but I do not believe my ribs are the cause.

    The other thing to consider - if you get a result that says, "Something is out of the ordinary," what can you do with the information? How can you use it? Even if all you do is say, "Now we know what it is," for some people this is a help. Or if you can say, "At least we know it is NOT a chromosomal abnormality," then you have excluded one more possibility, which means fewer remain.

    It can be expensive to do this, and the results can be disappointing, especially when you realise that medical science is still in its experimental infancy when it comes to genetic testing.

    I was tested for trisomy 21 in the baby, among other chromosomal abnormalities, when I was pregnant with difficult child 3. I was not permitted to refuse the test. I did not want it because I did not feel the knowledge would change anything. The test was expensive and we had to wait weeks for the result. It was a relief to know we did not have a baby with a chromosomal defect, but of course it did not warn us of his autism. They also would not have identified Fragile X, because they would not have been looking for it. That is why we had to test for it again, 6 years later.

  8. keista

    keista New Member

    Not sure if that is still true. About 6 years ago I was asked to participate in a "genetic study" regarding Asperger's. It was through a University Hospital. I was all for it, but husband (being the good *ahem* Apache that he is) refused unnecessary blood draws for himself and his son. Whatever They were try to 'map out' or find or whatever they do with the genes, any possible markers for Autism Spectrum Disorders (ASD) Don't know if they succeeded, but I do know I was asked. There just might be something out there these days.
  9. HaoZi

    HaoZi Guest

    There are some specific genetic differences linked to Autism Spectrum Disorders (ASD), but they're a low percentage of overall cases. If nothing else, a genetic test can rule out a number of things, which is also useful.
  10. ready2run

    ready2run New Member

    we had difficult child tested for fragile x and some other things as well. came back negative but the testing for fetal alcohol came back inconclusive. while we didn't get an answer it was good to rule a few things out so we could focus on what it could be.
  11. SomewhereOutThere

    SomewhereOutThere Well-Known Member

    The Autism Spectrum Disorders (ASD) that can be found on genetics tests is Fragile X. Prader Wille also causes behavioral problems, you can find that in genetics testing. I believe fetal alcohol syndrome can be found in genetics testing. Although you can't change the results, there are specific treatments for for these disorders as well as expectations...I wanted to know all I could so I could understand and help my child to the max degree.
  12. HaoZi

    HaoZi Guest

    Our genetics doctor indicated there was more than Fragile X when looking for Autism Spectrum Disorders (ASD) - I think she mentioned 3 other places. None definitive by themselves, but indicators of possibility.
  13. Marguerite

    Marguerite Active Member

    I didn't think fetal alcohol syndrome would show up in genetic testing. Not unless the alcohol has caused major damage in the DNA. And since the damage form alcohol occurs through different stages of pregnancy, including after the baby has formed and its blood as formed, I don't see how a blood test looking at the DNA will show it. That DNA would have been formed before the alcohol did its damage.

    HaoZi, there is a lot of stuff gets researched that never makes it any further, for all sorts of reasons. Even if it looks good and gets published, it can take ten years or more from the stage you described, to the tests becoming generally available and funded by insurance. It would be interesting to know more.