Discussions By Condition: I cannot get a diagnosis.

10 month old baby girl needs diagnosis

Posted In: I cannot get a diagnosis. 3 Replies
  • Posted By: JJBroc
  • September 23, 2008
  • 11:24 PM

Hi, my name is Jim. I have a eleven month old daughter, Cecelia, that is in the 75% for height and weight. She went for a physical today and the doctor noticed early breast developement. Everything else her pediatric doctor has checked out appears fine. From what I have researched this appears to be pretty common, one out of ten maybe.

Now here is why I am so concerned. My seventeen year old step-daughter has McCune Albright Syndrome. Those of you who are familiar with this disease know how serious it is. Cecelia has no other symptoms such as pubic hair or vaginal bleeding. I want her to be checked out more thoroughly and so does her pediatric. The endocrinologist my step-daughter deals with doesn't see the need for us to bring her in.

What do you think? This is making me sick to my stomache. Although it does not appear to be hereditary, I just don't understand why anyone would not want to get an early diagnosis. Why take such a chance?

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3 Replies:

  • I agree and think you should find a doctor who will see her! Kiera
    Anonymous 42789 Replies
    • September 24, 2008
    • 01:12 AM
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  • It *is* most definitely a genetic disease! Try here: http://www.nlm.nih.gov/MEDLINEPLUS/ency/article/001217.htm Find a good geneticist who can work up your kids, and don't take no for an answer. Your concerns seen warranted to me.
    aquila 1263 Replies
    • September 24, 2008
    • 07:08 PM
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  • "This disease is not inherited, it is sporadic. This means that a new mutation of the DNA occurs in the womb during development of the patient. This mutation is not passed on to any children the patient later has."This quote comes from the article in the post above. I see that it means my 17 year-old step-daughter who has already been diagnosed with the disease would not pass it down. I guess I just do not understand if her mom, my wife and mother of the eleven month old, would be likely to have another child with the same disease.I have spoken to a few more pediatric doctors as of today. And they all understand my concerns. They all said the same thing that we should keep an eye on her (obviously) for any other signs.I still going to bring it another step and have more testing done. Before having our two girls (a three year old and our eleven month old) we consulted many if not all of the doctors dealing with our seventeen year old. They all said it was highly unlikely for us to have a child with the same disease. I love my daughters, every inch of 'em. I wouldn't trade them for anything in the world. But we would have adopted a child if we were given the impression that there was a chance we would bring another child into this world with this horrible disease. Watching my seventeen year old go through this is terrifying, the operations, her bone pains and all the other problems that go along with it. Thanks for your input and please if anyone else has advice or someone we can consult PLEASE LET ME KNOW. Thanks Again
    JJBroc 1 Replies
    • September 25, 2008
    • 00:24 AM
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