6 months old, just home from open heart surgery
10 months old
On one of the Down syndrome boards I frequent a new mom just joined that had a "late diagnosis" of Down syndrome and wanted to hear from others with similar situations. Brianna was diagnosed at 2 months old. I wrote up "Brianna's Story" to share with the mom there (her son was a similar age) and thought I'd share it here as well.
Brianna is my biological daughter and at 5 weeks the doctors suspected something might be "up" with Brianna. She was 5lbs 2 oz at birth at 38 weeks and was born via emergency c-section because her HR was dropping during simple pre-labor contractions. She was diagnosed with "probable intra uterine growth restriction" (IUGR). Well, all that was passed off once she was born because her umbilical cord was only about 6" long, was hard, and was thin. An unusual umbilical cord would cause lack of growth and possibly HR declines during any labor... we were sent home early, 48 hrs after a c-section (normal here is 72 hrs).
Anyway, at 5 weeks she wasn't growing very much in weight or stature. Her only "symptom" other than that which led them to do a chromosomal analysis was that she had just a little bit of a 'fat pad' behind her neck. This is generally related to something chromosomal. They were thinking Turner's syndrome (female with a single X instead of XX) because of the lack of growth and no other symptoms. The ped admitted to me that he'd been standing over his medical books the day Brianna was born and watching her and going through the different things and found nothing that would explain her birth situation other than just the IUGR, but his concerns for her health didn't just go away.
So... they ran the chromosome analysis and the day before the results came back Brianna got a little cold. Kristopher was going in for his 2 yr checkup and I got the dr to just listen to Brianna's chest to make sure there wasn't any fluid since she was so very tiny. He told me the next day that he heart a heart murmur that wasn't audible before that- but that he didn't want to have me have one more thing on my plate when he knew the other test result would be in very soon.
The next day we were called in for a consult of the test results and he took Brianna and looked her over really good then gave her back to me and I'll never forget that feeling of knowing that he was going to tell us that Brianna had Turner Syndrome. "Well, we have a problem with Brianna. She has Down Syndrome." Mike and I smiled at each other. The ped said he was amazed and if he hadn't seen the test results he wouldn't believe it because of her lack of symptoms (which, as she gets older, are more prominent, but that tiny really weren't!).
I remembered then that when Brianna was newborn in the hospital I'd said that she did this funny little thing with her tongue, and it reminded me of my friend with Ds. I'd said it to my mom, my husband, my best friend... but she was so tiny and it seemed so insignificant, well... I never said it to the doctor! Anyway, I guess that was our "little sign" that she had Ds and we just didn't know it.
At the end of our visit with him after we'd talked about Ds he said that he'd heard a murmur yesterday and sent us straight to the hospital for an echo. That freaked us out more than anything else and we found out she has an AV Canal which needed repair in just a few months.
There initially was that feeling of "my baby girl is going to be...." when she was born and having to readjust after such a long time was difficult. After already growing dreams for her future that I didn't even realize I had... I had a definite period of grief over the diagnosis- more for her than for me. All the things I was so sad that she wouldn't, couldn't, do. I was sad for her not marrying, for not having grand children from her.
I'm only 2 1/2 years down the road from there, but I can tell you that I'm no longer sad for those things. First off, she might do some of them! And second off, she's shown me the things that she CAN do and she's fought hard to do them. Like taking her first steps last week and feeding herself independently.
In fact, when she was about 18 months old we decided that she has provided so much joy and fulfillment to us that we want to do this again... and again... with other children that aren't lined up in life to have the same opportunities that she has. We adopted Emma and Micah from Ukraine in March and both have Down syndrome. Emma had open heart surgery 3 weeks ago and is doing great now. Micah has doubled his weight and is now an active toddler learning to stand up and right now just fell asleep on my arm while I'm typing.
The journey's a little different than the one we thought we were headed on, but it's still a good one!