Possible trisomy 21 - where to look for advice

[Soul-O]

Hi Mamas:

We found out today that our baby has two soft markers for Downs (nuchal fold measurement of 5.7mm at 19w4d, and ventricular septal defect), which puts us in a higher risk category for Downs. I declined the amnio, so I won't know anything for sure until birth, but I wanted to start researching now so that I can be prepared for the challenges that may lie ahead. Are there any books/websites that you recommend? Also, if there are any military families out there who have advice about navigating through the EFMP system with a special needs child, I'd love to hear from you as well.

TIA .

[heatherdeg]

Well, we did the testing for similar problems (actually our u/s was WAY worse) notsomuch because of decisions about termination, but because we needed to know exactly what we were dealing with and how to prepare. In the process, I learned that it couldn't just be Downs, but it could be Turner Syndrome (which is very different in terms of managing life from what I could tell). So I'm not sure why you aren't doing the amnio (and I'm by NO means laying criticism) but if you thought that you wouldn't do it because it was just a matter of a termination decision--I thought I'd offer up another perspective.

I was also surprised to find out that depending on who's reading the u/s, they may not be seeing the nuchal fold correctly and it may be much smaller than they think. Yet another reason I wanted answers. And I found this out with a second opinion (and a second u/s ).

I don't have any great sites to give you or books to read. Partially because our situation involved other issues that we needed to research (outside of T21) and so the Down's/Turners was kind of swept aside.

Not sure any of this helps. But hugs to you either way.

[Aridel]

Disclaimer: My dd has different SN, so hopefully experienced T21 mamas will come along to help you out!

I know the National Down Syndrome Society has a ton of information on their site. They also have links to local support groups.

I agree with the PP though; even if you need to prepare for this, keep in mind that your child may not have T21, and may have no differences, or a different diagnosis than you expect.

[Barefoot Farmer]

Mama with a DS with T21 here! My DS2 was born with T21, he is presently 7 mo old and an absolute joy in our lives. At 14 weeks the doc found a thickening in his neck lining (it was of normal width 2 weeks later); he also had a suspected VSD, which resolved in utero. We were told at the time to plan for T21, Turner syndrome, or possible T13 or T18 (which are fatal). B/c I felt I needed to prepare myself for the possiblities that may lay ahead, not to give an answer about termination, we had a CVS done (different than amnio) and were told at 16wks that he had T21. I devoured several books prior to his birth. Expecting Adam -- written by a Harvard grad, expecting her second child, known T21, quite spiritual, speaks a great deal about struggling with the mental retardation piece. Road Map to Holland - written by a mother of twins in which one was born w/o T21, one w/T21. I love, loved this book (my DS is one of triplets so you can imagine I was able to relate a lot), although this book is very heavy on the trauma of not knowing beforehand and shock of the NICU, which might not be everyone's experience. After my DS's birth I have read Choosing Naia, great book about the decision to keep a pregnancy where T21 is expected, great information on T21; and Gifts, a collection of essays from mothers about how their child with T21 has enriched their lives; this is okay, a little sappy (for me), but at times very inspiring. Hope that helps. Feel free to PM me if you want.

[AndVeeGeeMakes3]

My brother, Ben, (23 years younger than me) has Down syndrome. I was his nanny from birth to three years.

We are very involved in NDSA, as well as our local chapter. We also started early intervention at three months, which, I think was as important for us as it was for him.

He's 18 now, and is the coolest guy I know. In fact, I think we're one of the most popular families in our city because of Ben.

Congrats on your pregnancy! I hope everything goes smoothly for y'all when bambino arrives.

[Soul-O]

Thanks so much for the advice and info, Mamas. At this point, the likelihood of Down's given the soft markers present (and the nuchal fold is iffy - some say anything under 6mm is OK, others say 5mm and under is acceptible) is 1/168, so I'm trying to plan for the possibilities while still keeping in mind that it is not necessarily likely that we will have a Down's baby. As many of you mentioned, there could be any number of issues that come with this little guy, and not all of them can be found on an ultrasound, or even by amnio/CVS.

Heather: We declined the amnio mostly for my anxiety-related reasons. My DH is deployed, and waiting on amnio results without his presence was honestly more than I thought I could handle. This has been a shaky pregnancy for a variety of physical and emotional reasons (mostly because it comes on the heels of three consecutive m/cs), and for my own sanity, I felt it was best to just let God be in charge.

[heatherdeg]

Originally Posted by Soul-O

Heather: We declined the amnio mostly for my anxiety-related reasons. My DH is deployed, and waiting on amnio results without his presence was honestly more than I thought I could handle. This has been a shaky pregnancy for a variety of physical and emotional reasons (mostly because it comes on the heels of three consecutive m/cs), and for my own sanity, I felt it was best to just let God be in charge.

Toooooooootally understood. BTDT minus a deployed dh and it was bad enough with mine right here (also on the heels of multiple m/cs, a wretched pg and then a good year+ of unexplainable infertility ). I truly get it. Thank you for not misinterpreting my post! I know it's a rough and emotional time. It's good that you're able to prepare for life, but to also hand it over. Hugs to you.

[SilverFish]

Originally Posted by AndVeeGeeMakes3

My brother, Ben, (23 years younger than me) has Down syndrome. I was his nanny from birth to three years.

We are very involved in NDSA, as well as our local chapter. We also started early intervention at three months, which, I think was as important for us as it was for him.

He's 18 now, and is the coolest guy I know. In fact, I think we're one of the most popular families in our city because of Ben.

Congrats on your pregnancy! I hope everything goes smoothly for y'all when bambino arrives.

i have an 18 year old sister with Down Syndrome too. i just had to +1 you on the popularity thing! we have so many more friends because of her than we would have had otherwise.

she just graduated high school today, and is going to college in the fall. we're SO proud of her!

[chrfath]

Congratulations! Many blessings to you during your pregnancy!

Our DD is 7 and she has T21 and she had a heart defect that required surgery. We had no idea until after she was born. So I can't help much with that part. There is alot of support on-line and usually a local community too.

Veronica is a delight most of the time. She is more like a typical kid than not.

[AndVeeGeeMakes3]

One thing that I notice people say a lot about people with Down syndrome is "how loving they are." It's true. But, really, they're as loving, as ornery, as happy, as sad, as any other kid, sometimes just a little more so. What I mean, is that they're people, not permanent infants. I'm so glad that society is moving (slowly) away from the notion that people with Down syndrome are kind of big babies, and is allowing them to move into the "real world."

My dd had surgery yesterday and, when we were in the recovery room, we noticed young woman working over in the corner folding linens who had Down syndrome. Working in a hospital! How cool is that?! I often have to restrain myself from going up to people and families with Down and hugging them, congratulating them, and myself, for being part of "the club."

[47chromosomes]

Resources I like:

Road Map to Holland -- a novel about one mother's experience.

Babies with Down Syndrome -- from Woodbine Press. Sort of your standard first book to read about Down Syndrome. Has the whole laundry list of issues that may or may not co-occur with Down Syndrome, like heart defects. May be a good one to peruse just in case so you can be prepared with questions to ask a doctor should you little guy actually have DS. Just remember, ANY child has a certain risk of all the conditions listed. They just happen to be more common in DS. My son has none of them. So you just never know.

downsyn.com is my fav website, mostly for the forum they host, which is very active and awesome to search and participate in. You can get to the forum from a button at the bottom of the page.

You know, there are a lot of great websites and inspirational books out there. Just remember, when searching the web if the information seems too depressing, it is probably because it is outdated. Raising children with DS is NOTHING like it was when we were growing up, or before our time. My son lives a very normal life. We have had to make some changes--he needs extra supervision--but he is intelligent and capable. And, we is a joy.