Boymomma123 wrote: ↑Wed Apr 22, 2020 5:08 am
Since she already has a son with DMD wouldn't her Dr encourage her to get genetic testing? Or does muscular dystrophy not shop up with genetic testing? I can't imagine being her OB and knowing she has had three more children after finding out she is a carrier for a fatal disease. Most women find that out and choose to not take the risk again. I wonder if she has lied to Frank about Nolan's prognosis because I don't understand why you would want a son/second child so much that you would risk having to watch them deteriorate and die before living a full life.
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Personnal but I am trying to reply about genetic testing... Just a heads up...
My second son showed a thick nuchal translucency, I had an amniocentesis after the morphological ultrasound. It took 3 days to get results about trisomies (13, 18 and 21). If I understood the process correctly, they color those chromosomes (how ? I have no clue !) and then they are able to tell easily if there are 3 instead of 2 for these. For the full karyotype, it took a little more than a month. They could not see anything obviously wrong so we were told baby was perfectly healthy and to carry on with the pregnancy.
When baby was born, he was hypotonic. It is something that can happen and it can resolve on its own within the first 6 months but that was not the case for us so when he was 9 months he had a whole set of tests done : MRI scan because they thought it might be a birth injury, blood test to check for MDs among other things and another karyotype like the one that was done while I was pregnant... When everything turned out normal, we were refered to a geneticist.
At the geneticist, he told us that according to our history and the physical exam of my son, he would be looking specifically at some chromosomes (3 total including his X chromosome) and that the technic used would enable him able to zoom in on the chromosomes and see if certain parts are damaged or missing. We had blood drown for that genecist early November 2018 ... and received the resuslts in december 2019 !!!
I don't know if the part of the X chromosome that causes DMD can be more easily seen since they know where to look for it. But in my experience it can take between 1 month and 1 year...
However, our son was a mild case as they called it, so our testing might have been put on the back burner to prioritize others testing.
(For those of you who are curious, they could not find anything wrong with our son, he is still hypotonic but he's learned to compensate so it shows only when he is really tired or sick. Since our little boy is otherwise healthy the geneticist advised against further testing...)
I hope Ean has a different approach and keeps an eye on the situation!