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Post by Monique on Jun 2, 2006 22:02:02 GMT -5
the dr in the delivery room could tell right away. As soon as he was born they told me they suspect DS and took him away for tests. I got him back 3 hours later. Then we were digesting that whole shock and then they came in the next day and said he would need heart surgery too.
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Post by andrewsmom on Jun 3, 2006 8:39:33 GMT -5
We found out at birth. We knew something was not "right" with Andrew but didn't know DEFINATELY what it was, even though we had the 3D ultrasound as well as a fetal MRI and a fetal echo. The neonatal doc's told us within 3 minutes of his birth that they thought he had DS. They took the blood test and sent it out telling us it would be back in 48 hours. Well, 2 months later, out of the blue, our geneticist called and said they "lost" the results and we didn't have to do another test unless we wanted too. Ofcourse, we did another test.
I haven't heard about the "fish" test. It sounds interesting though. Maybe you want to look into how reliable it is and go from there. If it is that easy, I'd go for it.
As far as the difference between getting a result for DS or Mosiac, other than you knowing, I'm not sure what the difference would be. I would think the therapy would probably be the same and she would be helped in the same ways. Sorry....really no help to you in that area.
I hope everything goes well and you can get the info you need A LOT quicker. Good luck... and let us know!!!
-Trisha
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Post by tienie on Jun 3, 2006 10:52:57 GMT -5
Meghan wasn't actually floppy. She was rigid. But she's also Autistic. Even so, she has hypotonia. It's a strange combination. She has muscle tone, but can't regulate it. Like I can't get tight socks on her (her feet feel like a newborns- kinda squishy), she can't turn door knobs, she can't pedal a bike...all because she can't regulate her muscles. But she kicks really hard! If she throws a ball at you you'd better duck, because she really chucks it. But even as an infant I had to cut larger holes in the nipples of her bottles because she couldn't get anything. But when she cried her body was rigid so she was impossible to hold. Like I said, strange combination when Autism is involved.
She doesn't have the crease in her hand, either. Really, the only physical characteristics are her tiny button nose with virutally no bridge, she's very short and isn't growing at the same speed as other kids (according to WebMD she'll be about 5' as an adult, but when I did it at 2 yrs old it said she'd be 5'2") she has square hands and feet, a pot belly, and she gets plumper and plumper all the time...but she eats right and jumps on the trampoline every night.
So I can see how it could be overlooked. Her characteristics seem to show more and more with age. For me, the big key is not only the height/weight thing but her personality. She doesn't act anything like Autistic kids do. She has the personality of Downs kids. She's very friendly and affectionate. She doesn't like eye contact very much, but she'll laugh and talk to just about anyone. The only reason she "qualifies" for Autism is because her language deficeit is typical of Autism and she has stereotypes. She toe walks, has sensory issues, and does this pumping thing with her legs. But it's mostly the language...that's totally typical of Autism. She doesn't understand much of what people say.
This is really long, but it gives an idea of why it's taken so long to diagnose it. It's been all me trying to get answers that has gotten us where we are. The school district was content with the phrase "developmental delay".
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Post by coopersmoma on Jun 3, 2006 20:14:51 GMT -5
Cooper was diagnosed by my OBGYN while pregnant. I had a level II ultrasound and then an amnio. I was about 30 weeks at the time.
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Post by beccasmom on Jun 4, 2006 14:47:05 GMT -5
Our obstetrician when he birthed Becca. He said, "Oh, we've got a floppy one" , as he pulled her out. She spent her first week in the NICU in an oxygen crib and then came home with oxygen . I started putting her in bed with me, that tiny bundle with the tubes attached to the tank, and she started tearing the tubes off her face. Then she tested at 90% for oxygenating on her own and they came and took the equipment away.
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Post by tienie on Jun 4, 2006 21:06:42 GMT -5
WOW Beccasmom...she couldn't have been too floppy tearing those tubes off her face! She knew what she wanted and was bound and determined to do it herself! You've got a headstrong little girl, there.
I hear so many stories about how and when the kids were diagnosed here, and it makes me wish mine was so simple. No one questioned anything. I see the signs in retrospect, but no one thought anything of it at the time.
Like the fact that she wasn't growing in-utereo so they had to induce me just in case the placenta was failing, but the placenta turned out to be fine. Should my ob/gyn have taken that as a sign that maybe something was wrong with her?
That she rolled everywhere for many many months (had rolling down to an art) until she was about 1 when she finally started crawling (military style). Should that have been a red flag to her pediatrician that something was going on?
That the percentiles for height have declined steadily and the percentiles for weight have increased at the same pace. Should that have been a concern to her pediatrician?
Now I find out that the MTHFR I have puts me at high risk for having kids with Downs...should the ob/gyn who diagnosed me with it have told me that?
I'm just wondering if I need to get all new doctors. I'm still trying to have another child...will my ob/gyn and the pedicatrician be prepared if this happens again? So far everything I have found out has been because of my own pressuring for answers. Should my doctors have been doing the pressuring and questioning instead?
I mean, for Pete's sake...she'll be 5 in July and we still don't have a diagnosis for her! Have I wasted 5 years and thousands of dollars on bad doctors?
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Post by momofrussell on Jun 5, 2006 12:57:44 GMT -5
Martienne.... I think if you change docs it's up to you. Sometimes it is time to "move on" so to speak with docs... not that the docs you don't have aren't good.. but maybe you need some more intune with your daughter's needs whether she has DS or not. I think I would want a doc that was in tune with who my child is. Also... on a side note.. little story. I have a friend in CA who's oldest was around 8 when Russell was born. I was very close with this mom, we saw each other everyday and walked together, ect. I could have bet the farm her daughter had DS. Seriously... she had ALOT of features associated with DS... ALOT... and one day we were talking.. about Russell and her daughter and I made a comment comparing our kids.. and she replied her daughter DIDN'T have DS! I was shocked LOL.. She knew for a fact her daughter didn't have DS.. so she must have tested for it.. but then I went on to ask what DX she DID have.. and she said.. she was just MR... I then asked if she ever had complete genetic testing done in case it was some other chromosomal thing.. and she said nope...she didn't want it. So... she was ok with it.. I don't know if I would be... but she was. So.. it does happen! Check you inbox.. I sent you another PM A.
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Post by Jackie on Jun 5, 2006 13:06:07 GMT -5
I can't believe this has happened to you...one test would confirm or negate the DS theory.
I see that you are in St. Louis...that's a major player in the medical field...
If it were me...I would get a good pediatrician...new one...and maybe a developmental one if there is such a person there...and go foreward from that.
The problem with seeing so many subspecialists is that they only specialize in one particular part of what is going on in the human body. Some of the docs are very "focused" on doing just their thing and prefer their patients to see a general physican for total care. Sounds like you have been running into situations like this.
And yes...you should probably get some genetic counseling if you intend to have more kids and feel you are at risk for something specific.
Jackie
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Post by tienie on Jun 5, 2006 14:53:46 GMT -5
What's funny is I never imagined DS for her until the psychiatrist said she suspected it. Even then I thought she was a nut until I was ripping on her to a mother whose son was mosaic and she explained that Meghan probably is too. That's when I read about DS and was astonished with some of what I was reading.
I don't think I'll be shocked with any answer, though. I knew she had PDD going in, just because I had read about it, but this could really be a number of chromosomal abnormalities. DS just sounds like the most likely of the bunch. PDD and MR explains a lot about Meghan's many problems, but it still doesn't explain why she isn't growing properly (with a healthy thyroid). I have to get to the bottom of this or I'll make myself crazy (short trip at this point). ;D
Adrienne- Your friends daughter could have been Mosaic. I heard one time that the affected cells could be in the brain, and the only way to find that out is with an autopsy. It's possible to never get a diagnosis! I hope that doesn't happen to me, because I don't think I would be okay with not knowing why.
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Post by momofrussell on Jun 5, 2006 17:54:14 GMT -5
YES! That's true.. she could have had Mosiac DS.. I never thought about it. And her mom didn't care anymore LOL....
I hope you get some good answers soon!
A.
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Post by dannysmom on Jun 6, 2006 19:01:39 GMT -5
We found out at birth. I had many u/s as well as a level 2 around 17 weeks. No markers were found. I had a c section and my husband was told they suspected Ds just minutes after he was born. I was told about an hour later while I was in recovery. They also told us about the holes in his heart...but later that day after his echo was reviewed by the Pediatric Heart specialist..we found he would need open heart surgery.
My ped told me they were fairly certain and not to hold out hope for the actual blood tests to come back. He was right, because about 3 days later while I was still in the hospital....it was confirmed.
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Post by maribella on Jun 6, 2006 22:42:15 GMT -5
Isabella was diagnosed by a neonatologist at birth. She was a full term baby. Almost immediately after delivery, she was taken to the NICU for evaluation. She was having trouble breathing. That is where they found her heart defect, and she was tested for DS. I delivered her at between 07:45 and 08:00 that morning, and by 17:00 that evening, we were being told everything there is to know about Down Syndrome, congenital heart defects, her specific defect, her O2 levels, jaundice, and so much more. It was so overwhelming. but we were glad to know what we were dealing with.
Hang in there, girl. I will pray for you and your daughter. Good luck with the geneticist.
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