Ask a Question?

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10 thoughts on “Ask a Question?

  1. We just received my son’s Whole Exome Sequence Analysis yesterday. If we sent you the results would be able to tell us if he fits into this category?

  2. Hello Tracey.It might be best to talk with your local genetic counselor. Do you have one? I would be more than happy to help you find one in your area. Whole Exome Sequence Analysis can be tricky (As I’m sure you know). It gives you a ton of information and it can be difficult to decipher. I would want to ensure that he has a proper and thorough evaluation based on his testing results and current findings via physical evaluation.

  3. The site talks about feeding issues. Do kids with this typically end up with a feeding tube? I have a friend who’s daughter might have 2q23.1 but they haven’t done any genetic testing yet.

    • Several of the children have low muscle tone which makes it difficult to swallow. To my knowledge, none of the children I know of use a feeding tube unless they are extremely ill.

    • I wouldn’t say that it is “typical” for 2Q kids to end up on a feeding tube. I have heard a very wide range of different feeding difficulties with different out comes. 2Q kids can have feeding issues for a variety of reasons; low muscle tone, acid reflux, structural abnormalities, just to name a few. There is no absolute yes or no to answer your question. My daughter, for one, has never been on a feeding tube and probably never will be. She is very high functioning in that area. Now I am not a doctor, just a mom. Your friend really, really needs to seek out a diagnosis before she starts worrying about issues that may or may not be applicable to her child.

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  6. We just got our report from the doctor today with the lab results. I know she was diagnosed with this, but there are other numbers listed. Our sit down appointment isn’t until 4 weeks from now, and I am dying to know where to begin. All along we have been treating her for cp, but she was apparently misdiagnosed. Her labs say 70kb? Also, where would it say if she is missing the mbd5?

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