Who diagnosed you/your child?

[tienie]

I'm wondering what TYPE of doctor diagnosed you or your child with DS? It's a poll of sorts.

My daughter's blood work got messed up and her neurologist doesn't want to repeat it because it was traumatic. I'm wondering if I should have gone to someone other than a neurologist.

[Ericsmomma]

tienie,

Our neonatologist diagnosed him....Eric was a premie, so he was in the neonatal unit at birth.
She diagnosed him when he was about 3 weeks old. ( he was in NICU for 39 days). Two of the other neonatologist totally missed it....when the chief doc came back from vacation, she told us that she suspected trisomy 21 and wanted to run blood tests. And she was right!

[Chris]

Sarah was diagnosed prenatally by a geneticist.

[momofrussell]

We still lived in CA and I found out when I was pregnant. I had a perinatalogist (sp?) do my Level 2 US who suspected it and he did the amnio and the a geneticist and genentic place/counselor did the true work up and results. I don't remember if my midwife called me with the results, I think she did... but they encourage you to see a genetic counselor which we did once, to get all our test results on paper.

I noticed on your other thread where you went..who IS your Neurologist? Is he/she a Ped Neuro? I wonder if we see the same neuro?

PS.. In case you see this post first.. I sent you a PM here
A.

[Emilysmom]

My daughter's diagnosis was made by a genetecist before her birth after my OB doc did a test called a PUBS (peri umbilical blood sampling). They did it like an amnio.....stuck a long needle into my belly and drew out Emily's blood from the cord and tested it. The thing I'm wondering is this: They called me 48 hrs later to tell me that they somehow messed up the test and would have to repeat it. I nearly panicked at the thought of having to go through that again, and they assured me that they had more of the blood left and would run the tests on it and I didn't have to go back in. Is it possible that there is still some of your daughter's blood in the lab that they could do this correct test with?

I'm sorry you didn't get any real results yet, but hope that you will find the right person who will help!! A genetecist should be able to help with this. We're here for you no matter what!

Susan

[Valerie]

Nicholas wasn't diagnosed at birth. When he was 7 wks old, I took him to the doctor for difficulty breathing. Chest x-ray showed some problems, and we were sent to a cardiologist the next day. An ECHO showed he had atrioventricular canal defect, and the cardiologist told us this usually goes along with Down Syndrome. So, that's when it was first suspected. When he had surgery at 3 mos, they took enough blood for the test, and it came back positive.

[ValerieC]

Our pediatrician had the testing done, he's the one who confirmed our suspisions. We then saw a geneticist who confirmed the diagnosis and did a physical exam looking for Ds characteristics physically.

[CC]

The surgical nurse that was present at birth and the Ped both suspected it just a few after Chris was born and handed over to them. The blood test was taken and I had the results back in 3 days, I hadn't even left the hospital yet from the birth and I had the results back.

CC ~

[Kristin]

The delivery nurse recognized the floppy hypotonia and epicanthal eye folds. She called the neonatologist. They did a heel stick and sent the blood to a genetics lab for a karyotype. Until Clarice was born, we did not know she had DS.

[2forme]

The delivery nurse who was present at alyssa's birth was the first to suspect because of the hypotonia. They immediately called the cardiologist and ran blood tests which came back Trisomy 21. The level 2 Ultrasound, by the way came back negative.

[mommygwen]

Geneticist.

Ped. thought it might be mosaic Ds. so we went to the geneticist. They tested 50 blood cells and found the extra chromosome in all 50. We could have gone to other tissues tested. (mosaic ism can put the extra chromosome in just some groups of organs) But with dx of Ds. We had enough to go on for needed therapies, etc.. I didn't want him biopsied unless they might find something that would help us with caring for him.

[tienie]

Mommygwen said:
"They tested 50 blood cells and found the extra chromosome in all 50. We could have gone to other tissues tested. "

What difference would it make? I mean, if he was dx with Downs, why would it matter if it was Mosaic or otherwise?

I often wonder myself. Her psychiatrist just said she needed to be tested for Downs (her words were, "I STRONGLY recommend testing"), but then the neurologist said he doesn't see it at all. He also said she was "growing like a weed" which is the complete opposite of the truth, though. I don't think I can trust his opinion. But I wonder, does it have to be mosaic or could it be plain old Downs and she just doesn't have all the facial features?

I suppose we'll find out, because I'm playing phone tag with a geneticist right now to get her in asap. I'm tired of waiting.

Do you all recommend a FISH test, which is a mouth swab and therefore noninvasive but limited to certain chromosomes, or a blood test which would require sedation of some sort? I wonder if they could test 50 cells with the FISH test or if it's just a few?

[steffipoo]

you mean to tell me you still have no diagnosis? Well my gild was confirmed at birth and tld to me the next day. That was a Fri. They did a heel poke blood test and by MON I had the results. I hear so many stories of people with who it takes forever to get the results and why??? I dunno. But the bllod was early friday morning after she was born and monday at 10 am I had the results. The docs had already confir med the results beforehand cause she definately had nmany characteristics of ds. I will never 4get after she was born a buncha doc's came in and would come up to me look at my nose then go back to her. She has a simian crease on her left hand and her ears are tiny and lower set.I prayed they were wrong and my ob who didn't deliver Liv and neglected to tell me her test results from the triple screen came up very suspicious)called me up CRYING her eyes out telling me the diagnosis. I saw a genetiscist at 6 weeks with her (I couldn't STAND the man he told me the day after she was born SHE HAS DS WHAT ARE YOU CRYING FOR? grrrrrr.... SHE'S CUTE THOUGH. THOUGH those words stung me like a bee who's very angry. But that is how we got the results.

[mommygwen]

I agree with you tienie. Some kind of dx helps with insurance, school and planning, but I did not "how bad it was". We just say he can do some things well and others not so well. When a therapist asks directly about mosaicism I explain about the blood test. The triplication can occur in some of the cells but not all, usually determined by the line of cells developing in the embryo. If his kidneys or liver for example do not have the triplication we wouldn't need to do any different care for him.
Gwen

[Claire]

We knew by 3D ultra sound done at 5 months into my pregancy as I was in full labor at the time. Adam was born at 35 weeks. They did the blood work when he was born and they told us what we already knew that he was Down syndrome, but they were checking for Mosaic or trisomy 13 I think. But the monent Adam was born we could tell, he had the line in the palm of his hands and was so floppy it was scary to hold him for fear of breaking something. I don't know how it can be missed at birth unless they have no straight line in the palm of their hand and very good muscle tone.