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delujm0
member
Possible downs syndrome 10 weeks old
delujm0
member
Hi all,
We just had our 2 month doctor appt (a few weeks late) and our ped wants us to take DD in for testing for DS. I know she is overly cautious, but the genetic specialist won't be able to get us in for several weeks and we're driving ourselves crazy. Just wondering if there are any experts on here that could give me some advice. It kills me that we have to wait so long to find out when I could be using that time to research.
DD was born at 39+6, 7.5lbs, 20.5". We did the NT scan and bloodwork while pregnant and it showed no abnormalities and a 1 in 10000 chance of having DS. The hospital physician didn't say anything about seeing DS markers, nor did the other ped at this practice that we saw a few weeks ago for reflux issues.
The doctor said her concerns are that DD doesn't clearly look like either of us yet and that her eyes are slightly almond shaped. She was also a bit concerned about the creases in her hands, though both hands do have two creases and none of them extend all the way across the hand. She has an umbilical ulcer, but the doctor said that is common and resolves itself in most children by the age of 5. The obgyn that delivered her said I had a "very thick healthy cord" so we figure that contributed to the ulcer. She was also sticking her tongue out during the exam, but she was hungry and her dad keeps sticking his tongue out at her and trying to get her to reciprocate, which she does a lot of the time.
The doctor said that DD has great muscle control, which she does. Her head control is great and she kicks so hard we almost can't get a diaper on her. When we hold her in a standing position she will take her weight on her legs, and she's been doing that since 3 or 4 weeks.
She is in the 95th percentile for height at 24" and the 95th for weight at 14.5lbs (at 8 weeks she was 13.1lbs). She is exclusively breastfed and gained 3.5lbs in each of month one and two. In the two weeks since our last doctor appt for the reflux she has gained a pound and a half.
I'm reading about symptoms and I just don't see many of them. Her hands are smallish I guess, but her fingers are long and proportionate, and I have extremely small hands with short fingers, so that alone isn't worrisome. Her feet and toes are short and fat, but again, so are mine. She doesn't have a large space between her first and second toes.
Her eyes are almond shaped and do seem to slant up, but I don't see extra skin folds, nor do I see white spots in her irises.
I don't know what else to look for, and I know I'm rambling here, but I'm nervous for her. I attached a picture, don't know if that will help. I of course think she's beautiful and perfect, so i am not unbiased. Obviously I'm not looking for Internet strangers to diagnose my daughter, I'm just wondering what else I should be looking for, and if anyone has a similar story and any wisdom to share.
Thanks!
We just had our 2 month doctor appt (a few weeks late) and our ped wants us to take DD in for testing for DS. I know she is overly cautious, but the genetic specialist won't be able to get us in for several weeks and we're driving ourselves crazy. Just wondering if there are any experts on here that could give me some advice. It kills me that we have to wait so long to find out when I could be using that time to research.
DD was born at 39+6, 7.5lbs, 20.5". We did the NT scan and bloodwork while pregnant and it showed no abnormalities and a 1 in 10000 chance of having DS. The hospital physician didn't say anything about seeing DS markers, nor did the other ped at this practice that we saw a few weeks ago for reflux issues.
The doctor said her concerns are that DD doesn't clearly look like either of us yet and that her eyes are slightly almond shaped. She was also a bit concerned about the creases in her hands, though both hands do have two creases and none of them extend all the way across the hand. She has an umbilical ulcer, but the doctor said that is common and resolves itself in most children by the age of 5. The obgyn that delivered her said I had a "very thick healthy cord" so we figure that contributed to the ulcer. She was also sticking her tongue out during the exam, but she was hungry and her dad keeps sticking his tongue out at her and trying to get her to reciprocate, which she does a lot of the time.
The doctor said that DD has great muscle control, which she does. Her head control is great and she kicks so hard we almost can't get a diaper on her. When we hold her in a standing position she will take her weight on her legs, and she's been doing that since 3 or 4 weeks.
She is in the 95th percentile for height at 24" and the 95th for weight at 14.5lbs (at 8 weeks she was 13.1lbs). She is exclusively breastfed and gained 3.5lbs in each of month one and two. In the two weeks since our last doctor appt for the reflux she has gained a pound and a half.
I'm reading about symptoms and I just don't see many of them. Her hands are smallish I guess, but her fingers are long and proportionate, and I have extremely small hands with short fingers, so that alone isn't worrisome. Her feet and toes are short and fat, but again, so are mine. She doesn't have a large space between her first and second toes.
Her eyes are almond shaped and do seem to slant up, but I don't see extra skin folds, nor do I see white spots in her irises.
I don't know what else to look for, and I know I'm rambling here, but I'm nervous for her. I attached a picture, don't know if that will help. I of course think she's beautiful and perfect, so i am not unbiased. Obviously I'm not looking for Internet strangers to diagnose my daughter, I'm just wondering what else I should be looking for, and if anyone has a similar story and any wisdom to share.
Thanks!
Re: Possible downs syndrome 10 weeks old
A few things you may be able to notice is if your dd always has her mouth open, or most of the time. Look for small nasal passageways. Is she congested a lot? Or does she snore? I will say that is definitely a plus is dds nose is a little smaller, because she doesn't have a weird disporportionate nose like my friends babies.
How often does she stick out her tounge, too?
I notice more of the eye slant with dd when I push her forward to burp or when she gets really upset.
I am assuming her arms and legs are of proportional length to her body? Short arms or legs is another sign.
The waiting game is going to kill you. I knew when I saw dd that she had ds they just did the test to confirm it.
She sticks her tongue out a good bit, but it's not constant, nor does she mouth breathe or anything. DH has a small mouth and genetic dental issues that run in his family, so we're hoping it's just that.
She did used to snore, but ever since we got her on the zantac for her GERD, she has stopped. Her nose is on the small side, but it looks like the same tiny nose that our nephew has, which is from FIL. Though it's possible we are just trying to talk ourselves into thinking she's ok at this point.
Her arms are definitely proportional. Her legs are a little short maybe if you really look, though long torsos and short legs run in my family, especially in females, so that wouldn't be a weird thing for her to have. And she's just so long for her age, I don't think her legs could really be considered short? She's in the 95th percentile for height. I don't know.
I have read that a lot of times mosaic ds can take weeks or months from birth to diagnose because the features are often less obvious especially in babies with a smaller percentage of chromosomal issues, so that could be what we're dealing with. I really hope we can get a blood test soon. It's driving us crazy.
I wouldn't be as concerned about your dd's heart because she is obviously gaining and eating well. She may still have a murmur or tear( not a dr so I don't know) but if it were major it would affect her weight.
Also not trying to be a stalker or anything but we are from the same birth month board even though dds bday fell in May. I have seen some of your posts.
If your dd does have ds or not she will remain perfect! And don't let anyone else make you feel anything less. Some people are narrow minded and will remain that way but most are accepting.
We're looking for another pediatrician now. The way she delivered this news to us completely stressed us out for a week, and for no reason. If she had said "I just want to be cautious..." maybe. But she was just like "she doesn't resemble you and her eye is slanted, I think it's DS, you should see a geneticist."
Thanks everyone for the kind words, and I hope for the best for you and your beautiful children.