Discussions By Condition: I cannot get a diagnosis.

Please help my 6 yr old daughter!

Posted In: I cannot get a diagnosis. 3 Replies
  • Posted By: mamaleeisme
  • November 6, 2008
  • 06:56 PM

I apologize for the length of this thread, but I am scared and frustrated and I am hoping someone on here may be able to help me. My daughter is six years old and has had health problems since before she was born. She was born at 40 wks. I was induced due to intrauterine growth retardation. She was 6 lbs, 3 oz and 20 inches long, but her head was most of that. After she was born, I noticed that she squeaked when she would eat. The pediatrician said that she was fine, and like a new mom, I believed him. She started gaining 3 lbs a month at about 1 1/2 months and didn't stop until she was 4. At 3 months old, she was hospitalized with breathing problems for 9 days and was diagnosed with tracheomalasia. She outgrew that mostly by the time she was 2, but had numerous hospitalizations for colds and RSV. At two years old, a geneticist sent out her labs and they looked for anything that could be causing the weight gain. She was diagnosed with Albrights Hereditary Osteodystrophy, as was I. At 4, she stopped gaining weight and we thought everything was better. Since April, she has gained 40 lbs and she is now 101 lbs. Her list of symptoms includes round face, short neck, brachydactyly, hyperactivity, obesity, posterior cervical fat pad (or buffalo hump), respiratory problems, insomnia, fatty gynecomastra bilaterally (breast growth), hypothyroidism, significant advanced bone age and behavior, social and learning disabilities. I am scared that if someone doesn't find out what is wrong with her soon, she could die. Our doctors don't seem to think that there is a problem, but I know that there is. If you can help, please write me back. Thank you for reading this.

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3 Replies:

  • i believe you are right, it is definitely not nothing, and I found a link to a condition related to Albright's hereditary osteodystrophy, I'm not sure if this is the condition I was originally thinking of, but I stumbled onto it while searching http://www.emedicine.com/derm/TOPIC13.HTM
    qwertyuiop123 453 Replies
    • November 6, 2008
    • 11:53 PM
    • 0
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  • I really find it hard to believe that any doctor would think that it's okay to weigh 100 pounds at age 6. Here is an article for your new endocrinologist. http://jcem.endojournals.org/cgi/reprint/81/4/1660 You need a dietician who can guide you with a scientifically balanced diet for the duration of her childhood.
    Monsterlove 2,921 Replies
    • November 6, 2008
    • 11:56 PM
    • 0
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  • You should consider a genetic disease.
    Anonymous 42,789 Replies
    • November 7, 2008
    • 11:10 AM
    • 0
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