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  • Turner's Syndrome Symptoms with negative diagnosis

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    Old 09-07-2002, 09:04 AM   #1
    beccalynn
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    Question Turner's Syndrome Symptoms with negative diagnosis

    Hi I'm Becca mom to four. This question concerns my third-born child Charlena. Ten and a half years ago she was identified in Utero as having potential chromosomal abnormalities. We were told at the time she would be born with Downs Syndrome or Turner's.

    At birth she appeared to be a textbook case for Turners but tested negative. Seven months later after she had so slowly grown that she looked under 3 months and was still only drinking formula another doctor insisted the first test must have been wrong. She was retested. Again the test was negative.

    We moved and around the age of 1 1/2 Charlena met a new doctor who diagnosed her as Globally developmentally delayed. He too felt that the test on Turners should be repeated as she was a dead ringer physically for the syndrome. The test was again negative.

    Fast forward a few years in the future and we are trying to decide to send Charlena to Kindergarten so we took her to the child development center in our area for assessment. The doctor takes one look at her and orders a test for Turners.

    It always seems to be a hurdle they insist we must cross before they will consider other problems to help her with. The tests are of course negative. She is also diagnosed with fine and gross motor difficulties and weaknesses.

    Later we learn she has a mild auditory processing disorder (which her sister and I also have) and some abstract (especially math) and a visual spatial learning difficulty. Her strengths lie in the areas of people skills and verbal abilities. Doctors say consistent with Turners as is her height and her physical features.

    We moved again and here in Calgary she lost her IPP (IEP in the states) due to a change in Provinces. We had to do the same process all over again including the test for Turner's Syndrome.

    Our peditriacian apologized as she realized how many times we have done this but she also says that if we have a record of the test there at the hospital then whatever department we go to we won't have to deal with the automatic assumption that Charlena has Turners standing in the way of other avenues being looked at.

    I tend to agree as every medical place I go the first thought from the doctor is oriented towards the cystic hydroma on her neck, then the folds under her eyes, low hair line, low set ears, short statue, tiny bones, memory/balance and coordination problems, stubby little fingers and toes, etc...

    Our pediatrician says that they can not help it as physically and mentally Charlena looks like a text book case of Turner's Syndrome. Even when we say she has been tested negative repetitively they can not seem to disbelieve the evidence of their eyes. So we question too.... Why? They say she has something but they can not tell what so continue to treat her as if she were a Turner's child just without the diagnosis.

    We find this particularily mysterious especially since our other daughter has Atypical Autism and some of the same issues Charlena has excepting of course the physical ones. The only physical abnormality our youngest has is completely different from Charlena... in her case she has hyperextended ligaments. Noonans has been brought up over the years and then discarded as doctors didn't feel this fit so we are left with this mystery.

    Doctors tell that they know of no other cases where this has happened but Charlena could not be that rare that there aren't others like her.

    Does anyone know of this "symptom dead ringer" thing happening with Turner's or other disorders and the diagnosis being negative or what her symptoms could possibly be related to? Thankyou for any help or sources you could give me including direction to a site or person who may be able to answer my questions.

    becca

     
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    Old 09-09-2002, 10:05 AM   #2
    Jaytor
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    Have both your children been tested for Fragile X Syndrome? There's considerable overlap between Fragile X and Turners, and males tend to exhibit more severe symptoms.

    Sick Kids [Hospital for Sick Children] in Toronto probably has the most extensive pediatric genetic medicine department in Canada. Sorry, but this probably means more tests for both your kids as well as you and, possibly, your husband.

    Suggest you look up the following article:

    Fragile X Syndrome Article by Jennifer Jewell, MD

    BTW, I responded to your other post re: overextended ligaments. Not sure how relevant that possibility [Ehlers-Danlos] is in light of the information on your post here.

    Good luck,
    Jay [from Toronto]

     
    Old 09-11-2002, 07:24 PM   #3
    lacydoll
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    Some members of our family has Turner Syndrome, before it was even known what it was in the late 50's or early 60's.This was very rare at the time and was believed to be genetic, maybe skipping every other generation. One of my sisters has it and also one of my mom's sisters.All kinds of tests were taken from A Medical school in Portland Oregon and this was very mysterious. My one sister had no hair under her arms or other places. She was very short, 4 foot 11 inches as was my aunt , who was shorter.This sister had to have a hyst because she had more mens cromozones than female. However you spell it. Just wanted to let you know, we had it before they even knew what it was...
    lacydoll in oregon

     
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