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Genetic Disorders

My niece is about 9 months and has been developing more slowly than other babies, but we always attributed it to her being premature by about a month and a half. Well, my sister in law says she took my niece to the doctor and that she has a genetic disorder, but said they didn't know anything else. I'm trying to be helpful, and not ask a lot of questions because I know this is hard for them, but I'm so worried about her. I tried finding info on line but there was so much information and it was hard for me to understand.

I guess I was just wondering how they know my niece has a genetic disorder if they don't know what kind of genetic disorder it is. Could this just be really minor? Or is it usually more serious since they knew it was some kind of genetic disorder, but didn't know what kind it was.

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Asked by Anonymous at 7:35 PM on Jan. 1, 2009 in Babies (0-12 months)

Answers (4)
  • Sometimes certain genetic disorders present themselves with typical facial features, developmental delays if a doctor is familiar with it, he may spot it and have an idea.

    So she was not given a name for it yet ? Did they do any blood labs ? Those take awhile so maybe the doctor just said "she probably has a genetic disorder, " but is waiting for the labs first to explain more.

    Honeslty I could not tell you if it's serious or not. Some may present themselves as minor at first and progress or some may be very minor and almost un-noticeable. Best to give her some space and just let her know you are there for her. As she finds out more you can help her digest the information.

    Answer by J9Mommy at 7:40 PM on Jan. 1, 2009

  • I'm the one who wrote the question! Thank you, I agree, I'm being very supportive and trying not to intrude! She is taking it very well. My niece has had some labs and blood tests, but all my sister in law said was that they weren't sure what kind of genetic disorder it was.

    Answer by Anonymous at 8:21 PM on Jan. 1, 2009

  • my dd was diagnosed with a chromosomal translocation at 18 months. it occurrs basically one in 500 people, and her particular location of the translocation is one that they couldn't find a similar case to hers. the drs just said she'll probably be developmentally delayed, and theres no way to predict how it will present in her life. she looks completely normal, but is challenged with eating and talking issues. she's beautiful and perfect as she is, the way God intended for her to me. has many issues similar to autism as well, but she's healthy and happy!

    Answer by peanuttysmom at 8:32 PM on Jan. 1, 2009

  • me again! some gen. disorders occur "commonly" (like Down's or Turner syndrome, etc) and can be identified easier than ones like my daughter's. her's is just a random switcheroo of the tips of chrom. #2 and #17. many occur on these two specific chromosomes, as well as #16. many people with a chrom. translocation are totally normal and don't even know they have it, and ones like my dd (she has an extra copy of some of the #2 chromosome part) are affected in ways that vary in severity. most seem to just have global developmental delays meaning they will take longer to do things than most kids. if your baby is not developing typically, look into intervention by the county MRDD (mental retardation and developmental disabilities) program; early intervention makes a DRAMATIC difference!

    Answer by peanuttysmom at 8:38 PM on Jan. 1, 2009

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