Probably a long shot but experience with genetic testing?
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    Default Probably a long shot but experience with genetic testing?

    It's probably a long shot but I was wondering if anyone has had experience with genetic testing and chromosomal testing on their kiddos?

    My son is 16 months old/13 months old adjusted. He has low tone and gets PT, OT, early intervention. He was seen in the NICU follow up clinic and the neonatologist feels his low tone should be improving. She feels he is way to flexible and after rereading his medical history, charts, etc. She feels like this testing would help maybe see if there is anything deeper going on.

    So I was wondering if anyone has experience with it and that it came back being helpful.

    Hope that makes sense and thanks much in advance.
    Nicky Married to Dan on 2/28/08
    Mom to Sebastian, my lil guy who came 6 weeks early 8/27/11
    Mom to Samuel. my extra lil guy who came close to 14 weeks early 8/1/12
    and always in my heart forever s 1/23/03 &7/23/03
    Letters to Sebastian http://librababy.wordpress.com/
    Letters to Sam and also our NICU journey http://scorpiobaby.wordpress.com/
    Rasing the Brothers Phttp://raisingthebrothersp.wordpress.com/

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    Prolific Poster Danifo's Avatar
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    I used to work at a place that did genetic testing for things like this but I don't have experience from the parent's side.

    There are a variety of genetic causes for low tone. Some are "common" and others are rare. It is most likely they would set up a cascade of tests (ie only do group B is group A is negative). Some have some medical treatments, some you are giving a name to a disease with no action plan different than what you are currently doing and some of the genetic causes lead to other health problems.

    I know some parents do feel reassured when they find out what is wrong with their child. Somehow the certainty of a name helps even if there isn't much to do for it, it at least gives them something to focus on. I think it also helps reassure them that they aren't missing a magical cure, they are doing everything possible for their child, and some feel it was something they physically did that caused it so a genetic cause makes them feel better. Some also use the genetic information to make decisions about having future children.

    In general, the genetic testing route is long. Each series of tests usually takes 4-12 weeks. There are newer methods than when I was doing the testing (3 years ago) where they can do larger panels of genes. There are usually 3 possibilities of results (1) definitely the cause (2) definitely no cause found and (3) genetic changes where they don't know what they do. I have tested some families over years because they still don't have an answer and their doctor keeps submitting them as new causes of a particular problem are identified.

    Does your insurance cover it? Where I worked in Canada that wasn't an issue but when I worked at a place in the States it seemed like there was more hassle with the insurance companies wanting to cover it or spreading out the testing so the patient had to pay the deductible over 2 years. I would start the testing in January so you have the whole year to get that sorted out and work through the cascade of tests. If it were me, I would do it for the potential for more information with the expectation that I may not get definite results.

    Good luck
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    Posting Addict CamelNoodle's Avatar
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    The only genetic testing we did was prenatal, with our son that had a birth defect. We also go to Amplatz, it was with the Maternal Fetal Medicine department. Ultimately it didn't end up helping much, because he was negative for all the things they tested and he was stillborn at 29 weeks. But it was good to know what he didn't have.
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    Posting Addict Spacers's Avatar
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    Danifo offered a lot of advice. I haven't done anything for my kids, but my sister went through genetic testing as a child and also again as an adult. She nearly bled to death after a tonsillectomy when she was young, despite having been screened for the major known blood clotting disorders at admission, so they did some more extensive testing to find out what it was that she had going on. Then 20 years later when she was pregnant with her first child, her doctor said that they had discovered that the rare clotting disorder that she has, can be a marker for a different genetic condition that also affects the heart. And since pregnancy is a stressor for the heart anyway, he wanted her to be screened for that disorder. Thankfully she was negative for that one. Both of them were just a standard blood draw, and they also drew extra blood so they could run a second panel of tests if something was indicated in the first round.
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    Thank you all for your responses. We have an appointment next month and then an appointment in April with a genetics doctor in April (the earlier we could get in)
    Nicky Married to Dan on 2/28/08
    Mom to Sebastian, my lil guy who came 6 weeks early 8/27/11
    Mom to Samuel. my extra lil guy who came close to 14 weeks early 8/1/12
    and always in my heart forever s 1/23/03 &7/23/03
    Letters to Sebastian http://librababy.wordpress.com/
    Letters to Sam and also our NICU journey http://scorpiobaby.wordpress.com/
    Rasing the Brothers Phttp://raisingthebrothersp.wordpress.com/

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    Online Community Director MissyJ's Avatar
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    ((((((HUGS))))))) Nicky -- glad you got the appts. You'll be in my thoughts and prayers for all to go well! Please do update as you're able!

    ~Missy

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    Thanks Missy and I will.
    Nicky Married to Dan on 2/28/08
    Mom to Sebastian, my lil guy who came 6 weeks early 8/27/11
    Mom to Samuel. my extra lil guy who came close to 14 weeks early 8/1/12
    and always in my heart forever s 1/23/03 &7/23/03
    Letters to Sebastian http://librababy.wordpress.com/
    Letters to Sam and also our NICU journey http://scorpiobaby.wordpress.com/
    Rasing the Brothers Phttp://raisingthebrothersp.wordpress.com/

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    Quote Originally Posted by MissyJ View Post
    ((((((HUGS))))))) Nicky -- glad you got the appts. You'll be in my thoughts and prayers for all to go well! Please do update as you're able!

    ~Missy
    Well we lucked out I guess you could say and had our appointment yesterday. There was a lot of confusion as to what kind of tests they wanted to do and such. So we had a few appointments scheduled and then eventually they wanted to see us in APRIL.

    Then last week I found out of a cancelation. So we went yesterday.

    They did something called a PTEN Gene Analysis. it's a very medical in explaining it but I googled and found this that kind of explains what it is
    PTEN-Related Disorders (including Autism Spectrum Disorder) | Ambry Genetics

    Specifically with Sam they want to look for Bannayan-Ruvalcaba-Riley Syndrome (BRRS). It does run in my family.

    If his tests comes back positive then I will be testing and we will need to decide if we want Sebastian tested as well.

    They want me tested as you carry a higher risk for thyroid cancer, breast cancer and uterine cancer. Being there is a history of thyroid cancer and breast cancer in my family, the doctor seems to think it would be worth doing if Sam is positive.

    With Sebastian having speech delay and such, they think it would be beneficial as well.

    So now we wait 6 weeks to hear the results.
    Nicky Married to Dan on 2/28/08
    Mom to Sebastian, my lil guy who came 6 weeks early 8/27/11
    Mom to Samuel. my extra lil guy who came close to 14 weeks early 8/1/12
    and always in my heart forever s 1/23/03 &7/23/03
    Letters to Sebastian http://librababy.wordpress.com/
    Letters to Sam and also our NICU journey http://scorpiobaby.wordpress.com/
    Rasing the Brothers Phttp://raisingthebrothersp.wordpress.com/

  9. #9
    Online Community Director MissyJ's Avatar
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    I'm glad that you got the testing over with as dragging 'til April seemed eternal. Of course now the 6 week wait must be. ((((((HUGS)))))) Will continue the positive thoughts and prayers your way.

    ~Missy
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    Prolific Poster Danifo's Avatar
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    Glad you got an appointment!

    I hope the results give you some answers.
    Spacers likes this.
    DD1 July 2008 (41w3d)
    November 2010 (13 weeks)
    DD2 August 2011 (33w5d)

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