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    Loopy Linda is offline Creator of gorgeous guys Carer of beautiful girls
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    Default Genetic Testing

    Hi,

    I am off to se paed in morning and am compiling list of questions.

    i would like to hear from anyone who has been thru genetic testing. what is involved?

    thanks linda

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    Nowhere's Avatar
    Nowhere is offline Winner 2007- Most Supportive Of Feeding Other-Than-Breast Award
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    hey there again

    Kenzee has just resently started seeing genetics, they have ordered some ganetuic testing for her the tests she is having are a FISH chromosone test to check all her chromosones, and a full body xray to check for bone age and any other abnormalities, all i know is the chromosone testing the FISH test takes 3 months for results, a lot of syndomes are also diagnosed as a clinical basis IE symtoms and physilcal atributes etc

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    Loopy Linda's Avatar
    Loopy Linda is offline Creator of gorgeous guys Carer of beautiful girls
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    thanks for that,

    i thought it was as simple as take a blood sample send it off and in a couple of days you get results ( sounds good to me). as i said i am seeing paed tomorrow and was going to ask about it so maybe having an idea of what it is would be helpful....i just don't want to go there and listen to what he says and think all is good and not ask anything( as i did with nuerosurgeon two weeks ago) then i come home and think of 20 million things i wanted to know.

    now i will just ask if he thinks it neccessary, i think my baby will be ok, just a bit slower ( i pray this is all)

    thanks for helping out

    linda

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    Hello, my DS has had various testing ordered via our Neurologist and we saw the geneticist for the first time last week. She went through our family history, pregnancy, birth, etc as well as assessed DS for any features which may give a clue as to which path she would starting testing. She ordered 3 tests, if the first and easiest one showed nothing, she would move onto the next one, and if still no clues she would do the more expensive and complicated test. She said results would range from weeks to months to much of the year depending on how things shaped up.

    They took a fair amount of blood to cover all tests and also a urine sample. She mentioned that depending what, if anything, was found they may do some testing on myself and DH in the future.

    Hope this helps in some way.

    All the best.

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    Loopy Linda's Avatar
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    hi everyone,

    i seen paed this morning...and i was able to ask him all my questions. Unfortunately the answer to almost all at moment is wait and see how he goes. but i am feeling a little better myself and i know that there is nothing i should or shouldn't be doing for him. At the moment he is a (sorry)'normal' baby and treat him no differently.

    thanks for help though
    Linda

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    I was relatively lucky they were able to confirm their diagnosis through a simple blood test, 10 mls of blood, off to the lab, 6 months later they has isolated the faulty gene, then were able to isolate the gene in my husband and i very quickly after that. If they know which group of disorders the child belongs too they know which part of the DNA to look in, otherwise it's impossible.

    Initially my DD disorder was confirmed with a special tests that measure the level of different sugars in the blood....another 10mls of blood, sometimes if their is lots of types of the one disorder they will take a small skin biopsy, send it off and grow it in the lab, so they can keep testing until they find the correct type, this saves constant blood tests.

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    Quote Originally Posted by JarKierGor Mum View Post
    hi everyone,

    i seen paed this morning...and i was able to ask him all my questions. Unfortunately the answer to almost all at moment is wait and see how he goes. but i am feeling a little better myself and i know that there is nothing i should or shouldn't be doing for him. At the moment he is a (sorry)'normal' baby and treat him no differently.

    thanks for help though
    Linda
    Sometimes tests take a long time. Dd2 is considered to have a syndrome, yet all the testing they have done so far hasn't revealed what it is.

    We've had fully body scans, heart/kidney/head ultrasounds, blood tests, and lots of geneticist and paediatrician appts!

    It may be years before they discover what the sydrome is. For some syndromes they can't test until they're older. The one our geneticist is looking at atm is extremely rare (no one in Aust has it). The problem is it is very hard to diagnose at such a young age. If dd2 was about 8 years old they could simply do an xray which would reveal it, but until that time the syndrome just doesn't present itself.

    Whether your child has a syndrome or not, they will always be your "normal" child. We see dd2 as nothing else but our daughter whom we love and cherish. She is developmentally slower and challenged at many things another 2 year old can easily do, but it just doesn't matter.

    Before I had dd2 I felt so much empathy for parents with challenged children. And when the dr's crowded around after her birth I felt pained and saddened that my baby wasn't considered "perfect".

    For the past 2 years dd2 has led me on a path of discovery, to a place I never thought possible.

    "What a tragic mistake it is to see the back of the tapestry of disabililty with all its knots and confusion, but never to turn it over and see the beautiful picture created on the other side"

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    Quote Originally Posted by gremily View Post
    "What a tragic mistake it is to see the back of the tapestry of disabililty with all its knots and confusion, but never to turn it over and see the beautiful picture created on the other side"
    What a beautiful quote


 

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