Is it possible my baby has Down Syndrome?

Anonymous
Anonymous wrote:
Anonymous wrote:
Anonymous wrote:What does your pediatrician say?


We haven’t had a visit with our Peditrician yet. We have one scheduled in a few weeks. Our midwife is highly trained and experienced and has provided our postnatal care so far.


What?! Your baby is 4 weeks and hasn't seen the ped?


This is within the scope of practice for CNM's.
Anonymous
Talk to your doctor about postpartum depression.
Anonymous
OP, I'm sure your baby is fine, but get to the pediatrician.
If it helps, my BFF from nursing school had a baby, that at 6 weeks, DH and I thought for sure it had DS. Decades later my friend said they were concerned at the time, but were keeping mum. Anyway, baby grew into a fine adult, totally healthy, and is now a parent, too.
Anonymous
Oh my word, get your baby to a pediatrician! If only for them to confirm everything is okay and you can talk to them about PPD.
Anonymous
OP, definitely call and try to get your baby in with the pediatrician sooner.

Aside from that, I find it hilarious how everyone is up in arms over the baby not having seen a pediatrician yet. Is no one familiar with the fact that in England and some other countries mothers and babies are seen by home visitor NURSES? It is rare for a baby to be seen by a pediatrician. In the OPs case they probably would be able to see a pediatrician although the wait would be long.
Anonymous
Anonymous wrote:
Anonymous wrote:
Anonymous wrote:
Anonymous wrote:
Anonymous wrote:What does your pediatrician say?


We haven’t had a visit with our Peditrician yet. We have one scheduled in a few weeks. Our midwife is highly trained and experienced and has provided our postnatal care so far.


Yikes.


Why yikes? The midwife is not some random lady we found on the internet she works for our hospital. My birth was considered low risk so there was no need for further medical intervention. This is pretty common in many states. OBGYNs are used with higher risk births.


Because you have some concerns about your child and you need someone more specialized to assess for Down syndrome since you have concerns about your child.

I’m sure your midwife is great in many ways but she’s not a pediatrician.


NP A midwife can stand in for an OBGYN for births; however, she is not a pediatrician Heck, even an OBGYN would not stand in for a pediatrician.
Anonymous
Op, my pediatrician spouse recognized a friend's baby's genetic disorder before that baby's pediatrician recognized it. It may not be Down's syndrome, but there are other genetic disorders. I would make an appointment with your pediatrician if only to ease your mind; but also because if you have an instinct that something is different, it's important to check it out.
Anonymous
This sounds terrible to say but one of my friends from college has kids that just look like they have Down Syndrome until they turn 4 and then suddenly they look normal. I was 100% sure her first kid had it, and then pictures started looking different. Then she had another, and I was 1000% sure this one had DS, the facial characteristics were not subtle at all. Showed a picture to my mom, who worked in special education for 35 years, and she was like, "yes, you are correct." Now that kid is in preschool and no longer looks like she did as a baby/toddler. It's crazy and I'm sure it's unusual, but some kids just look like that. Perfectly round face, flattened nose, slanted eyes, but no syndrome.

Similarly, a good friend's SIL was told at birth "there's something wrong with your baby, we can tell by the face, and we need to run tests" and there was nothing wrong except for a long and arduous vaginal birth. That kid is lowkey gorgeous now, and hopefully the doctor who said that feels like crap for scaring new parents over some swelling.

I'll add my voice to the chorus telling you that even without these concerns, 4 weeks is too long to wait to see the pediatrician. But you must know that by now.
Anonymous
Anonymous wrote:OP, definitely call and try to get your baby in with the pediatrician sooner.

Aside from that, I find it hilarious how everyone is up in arms over the baby not having seen a pediatrician yet. Is no one familiar with the fact that in England and some other countries mothers and babies are seen by home visitor NURSES? It is rare for a baby to be seen by a pediatrician. In the OPs case they probably would be able to see a pediatrician although the wait would be long.


Having access to doctors is a privilege that people like OP are forgoing. As an immigrant I just don’t understand this. My husband’s friend, a high profile MFM from Syria once told us how shocked he was that women in this country choose to trust midwives and whatnot because of what he had seen. Why wouldn’t you take advantage of top notch medical care? Especially in this area. But to each their own I guess.
Anonymous
Anonymous wrote:OP, definitely call and try to get your baby in with the pediatrician sooner.

Aside from that, I find it hilarious how everyone is up in arms over the baby not having seen a pediatrician yet. Is no one familiar with the fact that in England and some other countries mothers and babies are seen by home visitor NURSES? It is rare for a baby to be seen by a pediatrician. In the OPs case they probably would be able to see a pediatrician although the wait would be long.


OK, and? The kids in the UK are being seen by a trained professional, and if needed, can be referred to a pediatrician if needed. The point is that a trained medical professional is laying eyes/hands on an infant. I can get in same day or next day with my kids ped for anything. OP is negligent for waiting this long with her child.
Anonymous
Anonymous wrote:
Anonymous wrote:
Anonymous wrote:
Anonymous wrote:Yes it’s possible. NIPT is not 100% and it is possible to get diagnosed at birth.

I would get to a pediatrician ASAP as they will be able to assess and order genetic testing to confirm.


Can I just request a blood test? She had a heal prick at birth that checked for PKU, cystic fibrosis and a few others but not DS. Our other children had more extensive labs drawn at their 6 week peditrician appointment but not sure if they test for Down syndrome specifically.

Would I need to request that directly?


Why would you NOT want to see a pediatrician right away? Your pediatrician knows exactly what to look for and if testing is warranted. Don’t mess around.


Ok, I will set up an appointment ASAP.


Everybody, chill. OP said two pages ago that she was making an appointment.

OP, you don't have to say "I think my baby has DS". Just tell them the facial features and muscle tone seem to different than your other babies so you wonder if there are any genetic or other tests they recommend.
Anonymous
Anonymous wrote:
Anonymous wrote:OP, definitely call and try to get your baby in with the pediatrician sooner.

Aside from that, I find it hilarious how everyone is up in arms over the baby not having seen a pediatrician yet. Is no one familiar with the fact that in England and some other countries mothers and babies are seen by home visitor NURSES? It is rare for a baby to be seen by a pediatrician. In the OPs case they probably would be able to see a pediatrician although the wait would be long.


OK, and? The kids in the UK are being seen by a trained professional, and if needed, can be referred to a pediatrician if needed. The point is that a trained medical professional is laying eyes/hands on an infant. I can get in same day or next day with my kids ped for anything. OP is negligent for waiting this long with her child.


What do you think a midwife is? The midwife has been seeing the OPs baby. Midwives are trained medical professionals. The UK babies are receiving the same (what we would consider) substandard care that OPs baby is receiving.
Anonymous
Anonymous wrote:
Anonymous wrote:
Anonymous wrote:
Anonymous wrote:What does your pediatrician say?


We haven’t had a visit with our Peditrician yet. We have one scheduled in a few weeks. Our midwife is highly trained and experienced and has provided our postnatal care so far.


What?! Your baby is 4 weeks and hasn't seen the ped?


This is within the scope of practice for CNM's.


No, no. A highly trained and experienced CNM will require a newborn to see a pediatrician or even a pediatric nurse practitioner within two weeks of birth. Most to many within 3-5 days. She has a PP mother showing concerning symptoms a month after delivery. This isn't good.
Anonymous
Anonymous wrote:
Anonymous wrote:
Anonymous wrote:Yes it’s possible. NIPT is not 100% and it is possible to get diagnosed at birth.

I would get to a pediatrician ASAP as they will be able to assess and order genetic testing to confirm.


Can I just request a blood test? She had a heal prick at birth that checked for PKU, cystic fibrosis and a few others but not DS. Our other children had more extensive labs drawn at their 6 week peditrician appointment but not sure if they test for Down syndrome specifically.

Would I need to request that directly?


That blood test/here prick test should have been done w/n 24 hrs Op!!

I CAnt believe your midwife didn't tell you to do that sooner (or at least get your baby to an actual pediatrician).

You can't wait on that. I'm betting there might be something on that blood panel your baby is positive for (metabolism deficiency is my guess).

- Signed Mom whose newborn came back positive for one of the metabolic tests/heel prick and so grateful it was discovered right away.


We did have a healprick at birth. This does not test for Down syndrome.

I am not neglecting my child. I was seeing a medical professional.

I had an appointment this morning and baby is fine. Just had different features than her siblings. I am going to be treated for PPA.

Thanks
Anonymous
Anonymous wrote:
Anonymous wrote:
Anonymous wrote:
Anonymous wrote:Yes it’s possible. NIPT is not 100% and it is possible to get diagnosed at birth.

I would get to a pediatrician ASAP as they will be able to assess and order genetic testing to confirm.


Can I just request a blood test? She had a heal prick at birth that checked for PKU, cystic fibrosis and a few others but not DS. Our other children had more extensive labs drawn at their 6 week peditrician appointment but not sure if they test for Down syndrome specifically.

Would I need to request that directly?


That blood test/here prick test should have been done w/n 24 hrs Op!!

I CAnt believe your midwife didn't tell you to do that sooner (or at least get your baby to an actual pediatrician).

You can't wait on that. I'm betting there might be something on that blood panel your baby is positive for (metabolism deficiency is my guess).

- Signed Mom whose newborn came back positive for one of the metabolic tests/heel prick and so grateful it was discovered right away.


We did have a healprick at birth. This does not test for Down syndrome.

I am not neglecting my child. I was seeing a medical professional.

I had an appointment this morning and baby is fine. Just had different features than her siblings. I am going to be treated for PPA.

Thanks


Thanks for the update, OP. Glad your baby is okay and you're getting treatment.
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