Possible downs syndrome 10 weeks old

delujm0

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!

rklinge0

Not all ds babies will have all or even half of the markers. My dd doesn't have the small hand or feet, nor the palmer crease or the ear thing. She definitely is not gaining weight like your lo but its been a pretty steady gain.
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.

delujm0

Thank you. The waiting game will definitely kill us; my husband called the geneticists office today and was told that for a "non emergency" we couldn't get in there until February. He has a message in to our pediatrician now, because that is insane. We live in a major city and it seems like there is a simple blood test used to confirm ds, so I don't know why we have to wait and see a geneticist first. Why can't we have the test and then just deal with the geneticist if it's positive? I don't want to wait until February to start looking into therapy if she has ot, and I feel like she should have an ekg asap to rule out heart issues that would require surgery.

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.

rklinge0

We met with the genetic counselor at the hospital but they already did the test. There isn't much they will do except literally read a book and tell you what causes it. Since our diagnosis we haven't actually met with the guy from the center. The only real reason to talk to them is if its hereditary. Also fyi it can take up to a month to get the results back from labcorp. Me and another woman in my area waited that long.
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.

delujm0

Thanks @rklinge0. I know she'll be perfect either way. It's just quite a shock for this to have been missed in both my NT scan/ quad screen while I was pregnant, as well as the hospital after the birth. It's crazy to me that nothing was mentioned to us until she was 10 weeks old. It still seems like the doctor decided we should be tested because she doesn't really resemble either of us strongly yet, has slightly slanted eyes, and was sticking her tongue out a lot during the exam. The doctor even said it's generally 50/50 when she sends people in for the test. So we're hopeful that we'll get a clean bill of health still. If we can ever get the effing test done. The doctor is supposed to call us Tuesday, and she better have a better option than "waiting until February" or I will lose it on her.

delujm0

Update: we got in with the genetic specialist today and she was basically confused at why our pediatrician even thought we might have an issue. She said she was so completely 100% sure that DD doesn't have DS that she wouldn't even suggest a blood test. Aside from one eye being very slightly slanted up, she saw nothing that would even be a sign.

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.

rklinge0

Glad you got things straightened out! And definitely get another pediatrician.