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Post by tienie on May 30, 2006 12:30:02 GMT -5
At 8:30am tomorrow morning I will be getting the results from the chromosome study done on Meghan. I'm not sure I'm ready!
Worse case scenario, honestly, would be if he says, "Everything came back normal. We have no idea what is wrong with your daughter, and we are very pleased with these results. Have a nice day."
I HATE it when that happens, and I'm SO afraid that's how it's going to go. I seriously suspect Mosaic Downs, as does her psychiatrist, and I know it doesn't always show up on blood work. I just hope the dr is willing to work with me on this, but I'm afraid he won't.
Well, I'll be back on here tomorrow updating this. Everyone wish me luck and for all you fellow Christians...pray they found the answer!
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Post by Connie on May 30, 2006 12:43:26 GMT -5
Martienne,
My thoughts and prayers are headed your way. Good luck to you and Meghan and finding out what is going on!!!
Connie
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Post by momofrussell on May 30, 2006 13:56:30 GMT -5
GOOD LUCK!!!! Please keep us posted.... will be thinking of you!
HUGS!
A.
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Post by meghans_mom on May 30, 2006 15:22:25 GMT -5
good luck and prayers -- i hope there is some resolution for you all one way or the other.
laurie
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Post by Jessie on May 30, 2006 16:29:12 GMT -5
Good luck and I will keep you in my prayers that they can give you some answers tomorrow.
Jessie
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Post by tienie on May 31, 2006 14:43:39 GMT -5
Well, turns out I was wrong about my "worst case scenario" I painted for you. It actually goes like this:
OOOPS. We ran the wrong test. Instead of a chromosome analysis we did a DNA profile. Sorry. But it doesn't matter because she's getting therapy anyway. We don't want to redo it, but if she ever has to have bloodwork done in the future for some other reason let us know and we'll run it again. Have a nice day and see you in a year."
UG! So I will remain in the dark. No explanations for her. How can I find a support group without a "diagnosis"? I mean seriously, how can I join a DS support group, even like this one, with saying "I have self diagnosed my daughter with Downs"? I can't do that! So she will remain different with no one to feel "likeness" with. She'll just remain the "wierd kid who acts like a baby". He says, "I don't see a typical Downs look to her so I'm not concerned. I mean, she's growing like a weed." So when I point out that she's in the low percentiles for height and high percentiles for weight, when the rest of her family is tall and skinny, he just says "Oh...yep between 10-25% for height and 75% for weight. We'll keep track of that and see what kind of pattern we see next year."
Y'all have NO IDEA how frustrated I am right now!
Okay, this leads me to ask...who diagnosed your kids? A neurologist, or should I see someone else? (Maybe this will have to be a separate thread.)
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Post by meghans_mom on May 31, 2006 14:50:26 GMT -5
oh Martienne -- I'm so sorry you didn't get any answers...I don't know what kind of doctor you saw so sorry if this is who you've already seen - but go to a developmental/behavioral pediatrician....ask at your major children's hospital for recommendations. A geneticist is who dx'd meghan, but she was actually diagnosed in utero - so different circumstances.
i think a dev/beh pediatrician would be your best bet, unless that's who already gave you that cruddy answer.
hugs, laurie
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Post by MB on May 31, 2006 14:52:07 GMT -5
Who is they? There is a Down syndrome Clinic at Children's Hospital in St. Louis. I would give them a call. I am sure a geneticist will see you.
mb
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Post by Evans Dad on May 31, 2006 16:04:19 GMT -5
Geneticist should be able to do it fairly quickly - if they can do a fish test with amniotic fluid and have the results in 48hrs, I am sure they can do it through blood work just as quick. It is not their choice if they want to re-do the test, they did the wrong test in the first place. I would go back and have them do the test you requested.
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Post by tienie on May 31, 2006 16:05:03 GMT -5
I went to a neurologist at St. Luke's.
I heard recently about a test they do where they swab the inside of the mouth and do a chromosome study on that. I'm wondering if anyone would do that?
Thanks for the tips! I'll have to check out Children's (that's where they did the blood work) and a Dev/Beh Pediatrician.
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Post by momofrussell on May 31, 2006 16:52:18 GMT -5
WAIT WAIT WAIT.. you are in ST LOUIS??? OMG.. SO AM I!!! GOOD GRIEF... we need to get you to the DS clinic!! OHHHH I had NO IDEA!!!!!!! I will PM you and give you my number.. we have been to the Clinic and are familiar with Children's Hosp.. will be there Friday actually for another eye surgery for Russell!!
OMG... I just can't believe I just noticed you were here!!!!
A.
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Post by Chester on May 31, 2006 18:28:33 GMT -5
OH FOR CRYING OUT LOUD! I can totally understand why you're frustrated.....I am frustrated for you!!
Dawn
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Post by Jessie on May 31, 2006 19:24:39 GMT -5
Oh my how aggravating is that?! Grrrrr I'm so sorry you couldn't get any answers.
Hopefully A. can lead you to the right people in St. Louis.
Jessie
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Post by momofrussell on May 31, 2006 19:45:25 GMT -5
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Post by ValerieC on May 31, 2006 21:23:32 GMT -5
I can completely understand your frustration! Hopefully A. will get you heading in the right direction.
ValerieC
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&&Mommy to Griffin (96), Gray (97) Collin (00) enhanced and Lauren (02) the little princess.
