Discussions By Condition: I cannot get a diagnosis.

Two boys with multiple defects/ no diagnosis!!!

Posted In: I cannot get a diagnosis. 25 Replies
  • Posted By: rosa22
  • October 20, 2008
  • 01:30 AM

I gave birth two baby boy (a year apart/ two different pregnancies). they were both born with multiple defects ( brain damage, multiple heart problems, very small at full term). they both passed away a few weeks after birth. No diagnosis has been made. all blood and chromosomes tests were normal.
I am not sure what to do. not sure if there is a genetic problem with me or husband. No family history of defects with babies in either family.
Doctors don't have an answer or diagnosis. Please help!!!
any ideas. Considering Egg or sperm donor next time.

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25 Replies:

  • I am so sorry for your losses! Yes, there may still be a genetic issue going on. Have you and your husband been tested? I would find a good geneticist before you try again.
    aquila 1263 Replies
    • October 20, 2008
    • 07:56 PM
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  • Do you work? if you do, did you work at the same job for that one year?
    Charle2kx 2 Replies
    • October 22, 2008
    • 10:01 AM
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  • Yes, I have work at the same place during both pregnancies.
    rosa22 11 Replies
    • October 22, 2008
    • 07:52 PM
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  • I did the antenna research and it look like I have an antenna located .5 miles from my house. What does that mean?
    rosa22 11 Replies
    • October 22, 2008
    • 08:01 PM
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  • I am so sorry for your losses! Yes, there may still be a genetic issue going on. Have you and your husband been tested? I would find a good geneticist before you try again. We both have been tested and our results were normal as well.
    rosa22 11 Replies
    • October 22, 2008
    • 08:02 PM
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  • This is probably a genetic problem, you should see about genetic counseling, I will see if i can find something like what you described.
    qwertyuiop123 453 Replies
    • October 25, 2008
    • 00:35 AM
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  • What exactly were the heart problems?
    qwertyuiop123 453 Replies
    • October 25, 2008
    • 00:38 AM
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  • Were your sons' reproductive organs normal? (some disorders can cause things such as hypogonadism etc)
    qwertyuiop123 453 Replies
    • October 25, 2008
    • 00:58 AM
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  • What exactly were the heart problems? Also how old are you and your husband?What are your ethnicities?Have you or your husband had any genetic testing?Any known genetic diseases in your or your husbands family history?
    medstudent55 7 Replies
    • October 25, 2008
    • 01:00 AM
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  • This is probably a genetic problem, you should see about genetic counseling, I will see if i can find something like what you described. Both my husband and I have been tested (chromosomes analysis). both our results were normal
    rosa22 11 Replies
    • October 26, 2008
    • 00:57 AM
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  • What exactly were the heart problems? Small PDA, 2 holes in heart. one in each chamber.
    rosa22 11 Replies
    • October 26, 2008
    • 00:58 AM
    • 0
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  • This is probably a genetic problem, you should see about genetic counseling, I will see if i can find something like what you described. We both have been tested and our results were normal as well. We have also seen a genetic counselor. they could not tell us what is wrong. we have no history of genetic issues in either one of our families.
    rosa22 11 Replies
    • October 26, 2008
    • 00:59 AM
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  • Were your sons' reproductive organs normal? (some disorders can cause things such as hypogonadism etc) the second one was full term. the doctor mentioned something abnormal about his genitals. we did not fully discuss since the focus was on his heart and brain abnormalities.
    rosa22 11 Replies
    • October 26, 2008
    • 01:02 AM
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  • Also how old are you and your husband?What are your ethnicities?Have you or your husband had any genetic testing?Any known genetic diseases in your or your husbands family history? I am in my early 30's and his in his mid 30's.we both have been tested and the results were normal. Same for both sons as well. their chromosomes were normal. with no history of genetic problems in our families.
    rosa22 11 Replies
    • October 26, 2008
    • 01:04 AM
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  • That antenna is awful close to your home. I became deathly ill when I was living that close to an antenna, and even my pets were dropping like flies. How is your own health? http://health.groups.yahoo.com/group/emfrefugee/ Both my husband and I are very healthy. no issues at all.
    rosa22 11 Replies
    • October 26, 2008
    • 01:05 AM
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  • im thinking genetic, nutritional caused in some way or maybe the result of some kind of toxin within you or something which affected your partners sperm. What kind of work do you do?? (trying to find out if you are your partner has increased chemical exposure or anything else which could relate) Does you or your husband have any health issues??? (even minor ones? if so what?). No family history of defects with babies in either family. Some things which are genetic eg polymorphims need copies from both parents to cause issues. A single copy may be fine... until someone is unlucky to come across a partner with the same thing.. which then can increase the incidence. eg in my own case i have a MTHFR polymorphism .. i inherited a double copy of this .. a copy from BOTH my parents, this didnt cause any problem with me thou it affects my ability to absorb folate.. it is a very common polymorphism so not thought much about. But then caused me to have a child with major birth defect like spina bifida (thou my own child may not have inherited both copies of the polymorphism herself, she may only carry one copy or two like myself.. if she was genetically tested and she only has one copy of it.. it could be said.. that she's normal there). It is possible that both you and your partner have some kind of polymorphism which has affected things or the way your bodies can absorb a certain thing.. therefore causing an issue. http://www.protectingourhealth.org/newscience/birthdefects/2004-0501birthdefectspreview.htm Unlike the March of Dimes, many clinicians and scientists do not consider metabolic abnormalities to be birth defects since many can be explained by recessive genetic inheritance. Although that does not make them unimportant, for purposes of studying the incidence and causes of birth defects, it often helps to more narrowly define the conditions being considered. it's sad.. but it's a fact that birth defects caused by polymorphisms are not being studied as much! The March of Dimes definition also includes immune and nervous system abnormalities that are present at birth, though some, for example, mental retardation, autism, and attention deficit hyperactivity disorder (ADHD), may not become apparent for months or years.
    taniaaust1 2267 Replies
    • October 26, 2008
    • 03:28 AM
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  • somehow half my post got cut off.. that link thou i gave you in my other post, it has info in it on what things cause what kind of birth defects too etc.. so could prove helpful to you.
    taniaaust1 2267 Replies
    • October 26, 2008
    • 03:47 AM
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  • I am in my early 30's and his in his mid 30's.we both have been tested and the results were normal. Same for both sons as well. their chromosomes were normal. with no history of genetic problems in our families. My chromosomes are normal and there is know history of genetic issues in my family either.. but as i said.. a recessive polymorphism was running unknown throu my family. You cant currently rule out polymorphism stuff and it's still an area in which doctors are learning about so IF you dont end up finding out the answer at this point of time.. maybe it would pay to wait a few years.. and then research all over again. best luck
    taniaaust1 2267 Replies
    • October 26, 2008
    • 03:55 AM
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  • Chromosome 9, Partial Monosomy 9p is a rare chromosomal disorder in which there is deletion (monosomy) of a portion of the 9th chromosome. Characteristic symptoms and findings include mental retardation; distinctive malformations of the skull and facial (craniofacial) region, such as an abnormally shaped forehead (i.e., trigonocephaly), upwardly slanting eyelid folds (palpebral fissures), and unusually flat midfacial regions (midfacial hypoplasia); structural malformations of the heart (congenital heart defects); genital defects in affected males and females; and/or additional physical abnormalities. In most cases, Chromosome 9, Partial Monosomy 9p appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically). That sounds sort of like what you describe, but there is no explanation why you would have more than one child with that condition, I will see what else I can find.
    qwertyuiop123 453 Replies
    • October 27, 2008
    • 02:21 AM
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  • Did they have trouble breathing, or lung problems?
    qwertyuiop123 453 Replies
    • October 27, 2008
    • 02:24 AM
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