Discussions By Condition: I cannot get a diagnosis.

Child with undiagnosed problems! PLEASE HELP!

Posted In: I cannot get a diagnosis. 4 Replies
  • Posted By: keisha11
  • December 26, 2008
  • 07:04 AM

:confused:I have no idea where to begin! My daughter was born in 2007. About 2 months later I noticed she had pubic hair. Then as she got older she was not rolling over nor was she even wanting to sit up. She was about 12mths before she rolled over and actually sat up on her own. She started this old scooting on her bottem and that is how she got around for almost a year. I have taken her to Endocrinologist, Neurologist, and a Genetisis. They have ran SO many test and ALL of them have come back normal. She finally started walking when she turned 20mths. As a mother I can feel as if someting is not right. She is in physical and speech therapy. She is progressing and not regressing which is wonderful. When she was about 19mths she had 2 siezures.:( I just have no clue as to what is going on and I am up for ANY suggestions anyone has to offer. Thank you for reading!:confused:

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4 Replies:

  • Okay, developmental concerns are one of the greatest challenges for mothers and the description you provide is actually more common that you might imagine. Firstly, in the absence of hyperandrogenism or other endocrinological problem, pubic hair in infancy is observed in normal healthy infants and self-resolves. Since testing has ruled out the common underlying disorders which might be causal factors in your child's case, this would merely be an exceptional presentation and not necessarily pathological. The period at which children begin to roll over, crawl and eventually walk also falls under great scrutiny and typically the child is measured against developmental progress of other infants within the social environment of the mother or against published norms. This stage, however, actually can vary in the absence of any disorder. As I mentioned on another post, realize that isolated seizure activity can occur in normal, healthy infants and sometimes occurs because of changes taking place in the brain during development. Of greater concern, however, is the mention of physical and speech therapy. At your child's present age, the presence of difficulty with gait and coordination, together with speech difficulties, could indeed signify a potential problem. Under such circumstances, the possibility that this falls under the spectrum of disorders associated with autism is somewhat of a concern, but please realize that I haven't the benefit of direct evaluation or reliance upon medical records to support my suspicions. It is certainly a good sign that your daughter is making forward progress and her development over the next several years will provide your doctors with more firm indications regarding whether her course is merely late development or associated with the presence of an actual disorder within the autism spectrum. Lastly, please remember that the internet is an extremely poor, if not the worst, medium through which to try and gain information relative to diagnostic concerns of a medical nature. You should always rely on such information as purely informative rather than advisory and seek direct consult from your primary care doctors and specialists. Please stay in touch and let us know how your daughter progresses. Best regards, J Cottle, MD
    JCottleMD 580 Replies
    • December 26, 2008
    • 01:26 PM
    • 0
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  • Thank you so much for replying. I appreciate it so much! I will take everything into consideration. The doctors dont seem to concerned with her but as a mother I guess I can't help but to worry. We live in southern Louisiana so we are around some of the best medical facilities including Houston, New Orleans, and Dallas. I guess if all of those doctors dont think there is much concern then I shouldnt either. Thank you again!;)
    keisha11 2 Replies
    • December 26, 2008
    • 04:44 PM
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  • Therapy is the number one thing to do at this very young age, which you have done already. It is hard to see these developmental delays in a child and not know what is causing them. I have a 12 year old daughter who started out as delayed as your daughter, the gap has become larger over the years. It is different with every child, but you are right to be concerned. There is a support group for this type of situation. It is called Syndromes Without A Name USA, do a quick search and you should find it. There is an online support group of over 300 families who have children with undiagnosed situations.It is a hard road to travel alone, I have been on our undiagnosed journey for 12 years and counting. It has been so helpful to know that I'm not alone.Amy Cswanusa@undiagnosedusa DOT orgDOT in place of .
    Anonymous 42,789 Replies
    • December 27, 2008
    • 02:40 PM
    • 0
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  • ;)OMG! I was wondering if there was a support group. I had no idea where to look. Thank you so much! I have one question if you dont mind... Did you ever get a diagnosis?:rolleyes:
    keisha11 2 Replies
    • December 30, 2008
    • 03:55 AM
    • 0
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