Sunday, August 24, 2008

"Brianna's Story"


2 months

6 months old, just home from open heart surgery

10 months old

11 months

First Birthday!

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!


  1. Meredith,

    Thank you very much for your loving and inspiring words.

    Many blessing to you and your family~


  2. beautiful daughter and grand daughter Love, Mom

  3. The majority of individuals who have a late diagnosis of Down syndrome actually have mosaic Down syndrome. If enough cells are not counted (and usually this is the case when doing a test) they will not discover the two cell lines-thus they decide the child has Trisomy 21.

    So,if ever in doubt, or if ever a late diagnosis, first-look at the karyotpe and find out how many cells were counted. (if only 2-5 were counted, most the time there are not enough to see the two cell lines) second-look at the whole chromosome analysis the doctor shows you. In many cases it will say something like "low level mosaicism" or "mosaicism can not be ruled out" In other cases it clearly states mosaic Down syndrome but the doctor just doesn't mention it. Third-if there is no indication of the extra cell line, request another test with 100 cells ANALYZED. At least 100 would in most cases give you a proper diagnosis. (there are cases where more cells need to be counted or cells need to be taken from skin to see the extra chromosome lines)

    For more information on how to read karyotypes and all about mosaic Down syndrome, just visit our website at

  4. Kristy,
    Thanks for your post. For Brianna I believe only one cell was actually analyzed and we've often wondered if she has mosaic Ds. For us it really doesn't matter one way or the other- at least not right now- since the effects are generally similar or the same for both within the spectrum of Ds. Maybe one day we'll feel the need to have it done, but we're pretty settled for now :) Other parents might have questions though, so thank you for posting the links!

  5. thanks for sharing her story!!!

    the picture of her at 2 months reminds me soooooo much of kristopher - she looks just like him. :-)

    just out of curiosity... you said you smiled when the doctor said it was down syndrome... was that because turner's is worse or what? just wondering.

    all four of your kids are so blessed to have you as their mother. seeing you live your faith has done more than i can put into words. at a time when i need Him most, it's so helpful to see others in tough situations choosing to rely on Him. :-)

    - Michelle

  6. Brianna you are simply perfect. lovely. gorgeous. a real pleasure to real about. Remember to thank your parents for sharing you with us!
    of the Bernard Bunch

  7. It had to be so hard to hear at 2 months, we found at at Meghan's birth, I would never look at Brianna and say "She has Down syndrome" I would wonder if she did have mosaic Ds.

    Either way, she is an adorable little girl.

  8. How lucky are these children to have you? And how blessed are you to see beyond 'the label'and realise that the heart problems are much more of an issue than Down's Syndrome.

    Glad to hear that the heart surgery went well and trust that all four of your children will go on to lead happy and fulfilling lives.

    Penny Green
    Down's Heart Group