Discussions By Condition: I cannot get a diagnosis.

I desperately need some help

Posted In: I cannot get a diagnosis. 5 Replies
  • Posted By: THEODOSIA
  • September 7, 2007
  • 06:49 PM

:( :( :eek: My three years old son, was born after 36,3 weeks of pregnancy.He and his twin sister were delivered with a ceasarean with no other problems.He stayed inside the hospital for 12 days only for feeding because he was too small,only 1,850 krgs and 42 cm high.As soon we got home we realised that his joints were stiff and that he was having a clubfoot and also both of his hands have problems as he is having thumbs in palm.His right foot is about 1 cm shorter than the left and his left knee is bent and cannot easily be stretched. He is having total GH hormone deficiency and he is being treated with GH injections with good results so far.His intelligence is normal,he is walking running,talking and doing everything that a child of his age should do.Another problem is that he is having fever seizures since he was 12 months old, every time he has feverThe last time that happened lasted 45 minutes despite the medicine i gave him.His MRI was normal and he has no signs of neurological problem.Despite our trials to find what is wrong, we still have no diagnosis, exept that it might be some short of skeletal syndrome.wHAT I aam seeking is somebody with similar problems or any idea of what could that be,as in my country it is difficult to have help even from the doctors, because noone cooperates with the and all the parents are enforced to find the solutions alone.I am looking forward to your help and i am waiting to hearing from you soon.

Best regards
Theodosia

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5 Replies:

  • I can't tell by your posting actually what is wrong now as he is running etc. Is the only thing seizure fevers?
    rad-skw 1605 Replies
    • September 8, 2007
    • 11:52 AM
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  • I can't tell by your posting actually what is wrong now as he is running etc. Is the only thing seizure fevers?Despite the fact that he is having physiotherapy and ergotherapy since he was 1,5 months old,he needs to have several surgeries,to his right foot and also both of his hands, he also has several symptoms that lead to a syndrome witch may not be a known one as his symptoms are not typical of a certain syndrome.So noone can possibly tell what is going to happen to the future as these syndromes (skeletal) tend to have a progressive corse.For example a neurologist told me that he is having a silver russell phenotype but finally it is not a silver russell,it could also be arthrogriposis or dwarfism but the truth is that it is nothing of all of these I mentioned above so noone can tell me what is going to happen tomorrow.Wthat I forgot to tell you to my first message is that my ANGEL,because that is his name, has hepatosplinomegaly without having any lysosomal disease fortunatelly.So now I hope you can anderstand why I am so worried about the future,and looking for any kind of idea or information, espesially from someone with similar problems,that could give me a clue of what is happening to my son.Finally I am going to repeat all the problems that he is having:short stature(total GH difficiency),skeletal deformities(club foot,thumbs in palm,slight scoliosis,stiff joints,short neck,his right foot is shorter than the left and both of them are not symmetrical to his body as they are shorter than normal),hepatosplinomegaly,fever seizures (about 10 episodes)and a episode that was "status epilepticus",
    THEODOSIA 2 Replies
    • September 8, 2007
    • 07:42 PM
    • 0
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  • Where do you live? What country? Please respond...mommy cat.
    mommy cat 1654 Replies
    • September 8, 2007
    • 09:48 PM
    • 0
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  • Where do you live? What country? Please respond...mommy cat.I live in Greece:)
    THEODOSIA 2 Replies
    • September 10, 2007
    • 05:53 AM
    • 0
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  • Dear Theodosia, here is a link for an NAET practicioner in Greece. I do not know how far away from you this person is, but if you can go...please do.Wishing you and your family the best!!mommy cat:)
    mommy cat 1654 Replies
    • September 11, 2007
    • 11:45 AM
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