Loaded question—Prenatal testing

A student working on a project on Down syndrome in college posed a question yesterday on one of the forums I frequent.

What would you suggest for someone else who is going to have a baby? Would you suggest that they get the amniocentesis or any blood work directed towards finding any potential problems or was it just easier not to know?

And this was my response…  I know this is a controversial topic, but I wanted to share my perspective.

This is quite a loaded question, in most circles, but I'll answer as honestly as I can.  I didn't know prenatally and I'm very glad that I didn't.  For me, that is because my marriage was in a very fragile place, and if we'd have known this, I'm sure it would have been over before she even arrived.  I would not abort a baby for any reason, so when I was offered an amnio, there was no reason to do it and take any risk related to it. 

Even though we struggled with the first couple weeks of adjusting to all the news, I wouldn't trade that for the months of worry, unknown, fretting, etc, that I know would have come if we'd have known prenatally.  The time we had to adjust was helped in that we had a baby to hold and SEE and cuddle as we adjusted. She was "just a baby," not an unknown disability with problems and delays ahead of her.  That made ALL the difference, I firmly believe. 

I'm aware that not everyone handles this the same way, but I know without a doubt that we were blessed in not knowing, and every day since and because of her arrival, as well.

In an "ideal" situation, I'd love to see much less prenatal testing, because I do believe that the majority, by far, react to the information they are given based on that initial fear and emotion, and in doing so give up a child that they would love and treasure if they only had the chance to meet him.  If pregnant women could learn about DS, have the opportunity to read stories like those in Gifts and Gifts 2, as part of their education during pregnancy, then the "preparation" that so many desire would be there, and those who did not have a child with DS would be that much more aware of those they will encounter later on.  Increased awareness across the board, and inevitably more precious babies allowed to be born...seems win-win to me. :o)

I know we don't live in "ideal."   I also want to stipulate that I know that not EVERYONE who gets a prenatal diagnosis aborts, but the current stats, as recently as this week, still state that over 90% of those who DO know prenatally DO abort their babies.  But the truth is that in all our desire to know and be prepared we still can't know what our child will be like, we can't know their strengths, what they have to offer the world, and how they will bless the lives around them, even through struggles.  If the parents do not know prenatally, information can be found, adjustments can be made, all kinds of options are available, even if they feel unable to raise the baby.  BUT if they do know, and in doing so if they decide that the fear and unknown is too much and they decide to abort their baby, that decision can NOT be adjusted to, changed, or reversed. 

So to me, the benefit of knowing is not worth the very high cost of knowing.

Great article: Seen through loving eyes

Beverly Beckham writes for the Boston Globe and has many wonderful articles in her archives.  Yesterday, she had another winner, called Seen Through Loving Eyes.   What do you think? Have you had similar experience? Share your thoughts in the comments.

_______________________________

My granddaughter Lucy is six years old and is part of a class of people that is quietly being eliminated in my country. She has Down syndrome, a genetic condition that frightens so many women that 92 percent of those who learn they are carrying babies with it choose to abort.

Dr. Brian Skotko, a genetics fellow at Children’s Hospital, fears this number will rise. Prenatal tests are invasive, carry a risk to the fetus, and are given in the second trimester, so many women choose not to have them. But a simple new and non-invasive blood test, to be given early in a woman’s pregnancy, is coming, perhaps as early as next year.

“As new tests become available, will babies with Down syndrome slowly disappear?’’ Skotko ponders in a soon-to-be-published article in the Archives of Disease in Childhood, (a British medical journal) available online now.

It’s easy to understand why parents fear a diagnosis of Down syndrome. You Google definitions of it, and even now archaic words and misinformation pop up. It’s the same in doctors’ offices. Pregnant women are told only the negatives. Old stereotypes linger.

My granddaughter cannot do all the things that typical kids can. She doesn’t come home from school full of stories. They may be in her head, but we can’t see in there. She speaks and sometimes we don’t understand. She can’t make a teddy bear with paper and glue, not without help. She can’t understand why her grandfather would rather watch baseball than Shirley Temple. She does not have the same skills and abilities that her 5-year-old cousin Adam has.

But Adam doesn’t have the skills and abilities she has. He doesn’t always enter a room and greet everyone with a big smile. He doesn’t always leap to his feet and race to his father when he comes home from work. He can’t sit for hours in a fancy restaurant or through a long movie. And he doesn’t know instinctively when someone is sad and needs a hug.

He can field a ball and she can work a room. He sings a whole John Denver song, and she sits and applauds.

This is what doctors don’t tell mothers having babies with Down syndrome, that you will see in your child amazing things that you won’t see in ordinary children.

Of course, parents want healthy kids. And some get them. But children get sick. They get in accidents. They lose limbs. They suddenly stop talking one day.

Children in wheelchairs, on ventilators and crutches? Children hooked up to IVs getting chemotherapy? People on waiting lists for transplants? People with chronic diseases. Soldiers changed by war. Civilians changed by an accident.

They weren’t born this way. But if there were a test that showed their future - that showed diabetes and cancer and autism and muscular dystrophy and mental illness and depression and alcoholism - would women take it? And seeing what would be, would they choose to abort?

Last week we took Lucy to Davis’ Farmland in Sterling, where we played with the animals. Then we went to a wine tasting at Nashoba Valley, where Lucy drank juice and shared our cheese and crackers and enjoyed the day.

All kids with Down syndrome are not like this. But this is Lucy. She makes me notice the ordinariness of people who don’t have it.

In the play “Cabaret,’’ set in Berlin as the Nazis rise to power, a man loves a woman he’s not supposed to because he’s Christian and she’s Jewish. He tries to explain his love to his friends. And because “Cabaret’’ is a musical, his explanation is a song.

“If you could see her through my eyes, you wouldn’t wonder at all. If you could see her through my eyes, I guarantee you would fall, like I did. . .’’

Like I did. Like Lucy’s mother and father did. Like all the people who know Lucy and people like her did. Like the world would, too, if only given the chance.

Sequenom test delayed

I just received this from my friend Missy, and I think it's worth sharing!

Many of you know that Sequenom had been developing a new test that they claimed could diagnose a first-trimester unborn baby with Down syndrome with up to 95% accuracy. It was a blood test, so it surely would be used often by women, and the likelihood that abortion rates for babies with DS would increase was a very real concern. The news came out today that the test release is delayed due to “the discovery by company officials of employee mishandling of R&D test data and results.”

I don't know what that means exactly, but I know that I'm pleased. Prenatal testing is a hot issue, and I'm not trying to debate that at this point. Just sharing the latest info on something that many of us have been watching.

It's a...

Baby, just one, and it wiggles. That's what we learned today from the MFM specialist, Dr. H. The due date is still iffy, in my opinion, but it'll be the first half of Feb sometime.

I was given all the ins and outs of the screenings and tests available. I explained that I'm not worried about things unless it's something that requires a change in care or delivery plan. We'll do the basic stuff and have plenty of ultrasounds.

The doctor asked what resources I found to be helpful when we got Braska's diagnosis. So I had an opportunity to talk about everything from our local group in Champaign to the blogs and forums that really made the difference for me. I let him know that I always want to be available to any practices that I'm involved in with work or as a patient if they have a situation where I can be of help. This is the office that delivers prenatal diagnoses to women, so I love that he is open to learning how to do it in a more helpful way. I told him of Braska's blog and he asked if he could write it down to share. I had blog cards with me, so I gave him a couple and said I'd be happy to talk to anyone if they ever thought it would be helpful. But often, it's much less intimidating for someone with new fears and questions to be able to simply look through a blog or forum than it is to talk to someone. So I'm so glad that we might be able to help someone get a more realistic view of Down syndrome and put a cute little smiling face with the big bad diagnosis.

The new same ol'

I've had alot I thought about blogging about, but I can't seem to find 5 minutes of lucidity to compose any thoughts. How you 3-a-day-post-people do it....I'm so clueless.

Braska's got 5 therapy appointments per week now, so that in itself makes for busy. And this week we added an appointment for me today, and an appointment for her with the pediatrician tomorrow. That's alot of places to be in 5 days. Oh, and we're also going to look at houses tomorrow night, but it's very preliminary.

This weekend we spent 3 days in South County with the fam, I'm thinking we need a vacation home there already. Am I glad the drive is only 40 mins? Yes!! Do I kind of wish for weekends like this it was 10? Yuppers. I'm so darn exhausted. We had a great 4th hanging out at Cindy's place by the pool. Then Saturday Cheryl had a graduation party and we hung out some with Jerry and Nadine, relatives from Iowa, who were in town. Sunday it was back down for church and lunch before Jerry and Nadine took off, then hangtime at the parents for the afternoon. This coming weekend my brother-in-law is getting married, so we're headed south again, but they're worth it.

We had to find another place for Belle to go. She offended her host, so we found another willing party to take her. Thank you Nancy!!!!!!! I think she'll be very happy. I just want her to be happy, but I'm sure she is confused, and that's sad to me.

For those of you who like preg updates... I'm feeling icky and un-good, but nothing like the bad most of you probably deal with. Just a constant not-good that lets up for a few hours in the middle of the day. It sure makes normal things more difficult. I'm having some sleep issues, but I think they're related to exterior influences, not the tummy baby. I went to the OB today, very nice doc. She is sending me to an MFM (maternal fetal medicine specialist) next week for an ultrasound to determine when this baby's gonna get here. And of course, I'm high risk, ya know. Will be 35 when I deliver, history of baby with chromosomal issues and heart defect.... and some other stuff. High risk. Watch out! I agreed to go because I don't mind ultrasounds, but I made clear that I'm not interested in the invasive testing... what? we may have a kid with a chromosomal abnormality? No! Say it ain't so! Yeah, that would be the easy option, we've decided. We KNOW how to do THAT! It's them regular kids we don't know what to do with.

Alright, enough of this stream of consciousness blogging. Dangerous, it is. And I don't cotton to such things. Time to try to sleep again.