Prenatal Testing

Oops, I missed yesterday.  I figured it would happen eventually.

I wanted to make a post about prenatal testing.  I always feel frustrated when I see so many misconceptions about prenatal testing.  Here are just a few I would like to address:

• "I would never get the prenatal tests because I would keep my baby either way." - This implies that the only reason to get prenatal testing is because you would consider ending the pregnancy.  This may be one reason, but I think most people just want to know whatever they can about their baby in advance.  Just think about how many people find out the gender before the baby is born now.  I also think most people, myself included, took the test just assuming it was more like a check box in their pregnancy.  I always thought "why not?" and didn't think I would get a phone call saying my baby was at higher risk.  I do see benefits to knowing now rather than at birth.  I'm a planner and I've done tons of reading and research.  I feel like I'm now able to enjoy my pregnancy without any doubts about whether she has T21 or not looming over my head.  I'm also considering switching to a hospital with a higher level NICU, but that all depends on if we see anything at our fetal echocardiogram tomorrow.

• "There are too many false positives with those tests." - I'm blaming this one on doctors and nurses actually, but the screening tests should not be told as a "positive" or "negative" result.  They are "normal" or "abnormal" and have a risk factor.  I was told a 1:93 chance of having a baby with T21.  My daughter was the 1, but about 92 other women would get the same result and their child would probably not have T21.  That's how statistics work.

• "You shouldn't worry if your baby has Down Syndrome because all people with Down Syndrome are always happy and healthy." - This one is a misconception for two reasons.  First, T21 is a condition that includes a higher likelihood for health issues including heart problems, bowel obstructions, hearing/sight impairment, among other problems.  Not every person with T21 is completely healthy, but most health issues are easily fixed with surgery or treatment.  That being said, not every baby is born healthy either, but I do still worry that Ada will have a heart problem.  Mainly because I don't want my newborn to go through surgery and I'm pretty sure no one would.  There are health risks with any person or child.  No one is completely healthy all the time, but it's natural for a parent to be concerned about their child's health.  Also, these screening test also check for risk factors associated with Trisomy 18 and Trisomy 13, which commonly have major health issues associated with the condition.  The other reason this statement is wrong is because people with Down Syndrome have the same array of emotions as any 'typical' person.  They can be happy, sad, angry, excited, frustrated, and any of these emotions.  

  I am going to end by saying that these prenatal tests do come with stress.  Women get stressed when their results come back as 1 in 250.  1 in 250 is not a great chance and there is still a chance even when you're told less than 1 in 10,000.  It's all just statistics and there will always be those that fall out of the norm.  In the end, it kind of means nothing.  It's a personal decision if you want to take these tests or not.  Personally, I would do it all over again.  I like being prepared.  I also love this billboard from IDSC for Life and Changing the Face of Beauty.

 

That is why you shouldn't worry about having a child with Down Syndrome, but, of course, you're going to worry whether your child has a genetic condition or not because it's one thing a mom is pretty good at.

Touching Story About a Dad

Today, I'm just stealing from someone else's post.  I saw this on a blog yesterday and found it very sweet and touching.



Also, time to post some more pictures of Brady.  Here's a sequence of him brushing his teeth.

Just an Average Day

Today has been pretty average.  Maybe a little busier than usual, but right now Brady is down for a nap (at least we'll see if he stops talking to himself soon), dinner is cooking in the crockpot, zucchini chips are baking in the oven, and the dishwasher is almost ready to be unloaded.  This means I have a few minutes to blog.

Today, I'm thinking about "normal" and "average" a bit.  It was something that worried me at first.  Will our life ever be easy and normal once Ada is here?  Will we have average days like this?  These were some of my concerns until I met a family that our genetics counselor connected us with.  They live in our area and have a 5 year old son and a daughter who is a few months older than Brady.  She also has Down syndrome.  We actually spent some time with her and her mom today at the local library storytime.  In so many ways, she and her family have shown me that Down syndrome is not in the forefront of their life.  She is just like a "typical" toddler.  Yes, she has extra therapy and doctors appointments, but every day for their family seems to be very similar to what every day is for us.  Spending time with her and her family has really helped us out a lot.  Plus, now we have more friends in the area with children the same age as ours.  Did I mention her mom is due with her third one month after Ada is due?

I've decided I will devote some time this month to reading other blogs for 31 for 21.  I obviously don't have time to read them all because there are over 150 last I saw.  I (somewhat) randomly selected 8 of these blogs and figure I will read at least these blogs throughout this month.  I'm going to create a list on the side of the blogs I selected to read.  It truly helps to read others blogs and feel like I can know (at least a little bit) about what I may be expecting in our future.  I also have added my favorite links to the side bar.  These links are blogs and other resources that I found helpful in the few weeks after my prenatal diagnosis and continue to find helpful now.

Where It Starts

I suppose a good place to start would be our diagnosis story.  It's going to start with all the testing we did to get our diagnosis, which is pretty long and detailed so feel free to skip to after we found out our results if you want.

Genetic Screening/Testing

With Brady, we had the first trimester genetic screening. Our risk factor came back as less than than 1 in 10,000 for all three trisomies (13, 18, and 21) and we never really thought of it again.  Honestly, we're the type of people that just like to know all the information we can.  It must come from being engineers and science-types.  We got the same screening this time around.  The screening consists of an ultrasound to measure the nuchal translucency (NT), which is fluid on the back of the baby's neck, and a blood test to measure HCG (pregnancy hormone) and PAPP-A (a protein) levels.  I remember with Brady that his NT measurement was pretty small and hard for the doctor to measure.  This was the same with Ada, so I wasn't really worried.

Three days later, I got a phone call and I was instantly worried.  They didn't call me with Brady, we just went to the next appointment and they told us the results.  The nurse told me that our risk factor came back abnormal and the risk level for T21 was 1 in 93.  I like that the nurse did not say positive because so many women are told positive and this is NOT a positive or negative test.  The words positive has such a definitive meaning.  I still freaked out.  Brian calmed me down by telling me that that's still over a 98% chance of having a baby without Down syndrome, but even then I just had a feeling.  In a way, I just knew, but I wrote it off as being hormonal.

We went to the genetics counselor and she told us our options.  We had already done tons of research and we were pretty set on getting the MaterniT21 test.  Besides, I was not even 13 weeks at this point and wouldn't be able to do any other testing for at least 3 weeks.  We wanted news faster than that.  We did schedule the Level II ultrasound and the amniocentesis anyway.  Then there was the waiting.  After 8 business days, I had to call.  Apparently, the first vial had too much fetal DNA and they had to run the second vial.  On day 10, the genetics counselor called and said the second vial came back "failed." Something about not enough blood in the vial, which doesn't make sense to me.  My test was inconclusive and they would have to redraw blood.  At this point, my amnio was scheduled for one week away.  We decided we didn't want to wait 2 more weeks to hear another "inconclusive" and then have to wait 2 more weeks for the amnio results.  We were at least able to get a refund for our MaterniT21 test.

At 15.5 weeks, we went in for the amnio.  We had an ultrasound before and there were no markers, but the genetics counselor did tell us that a lot of the markers may not show up until around 18 weeks.  The amnio was a little scary, but didn't hurt more than a normal blood draw to me and didn't leave anything except a small dot on my abdomen.  Blood draws usually leave some pretty nasty bruises on me.  Now, time for more waiting.  It was actually just about to come on the second weekend (9 days) and I called the genetics counselor to see if we were going to hear news before the weekend.

The Results

I was just barely 17 weeks and my OB, who is at a different office than where all our testing was performed, called me back rather than the genetics counselor, who I was expecting to call back.  She told us that we're having a girl and that she has Trisomy 21.  She gave me her cell phone number and the genetics counselor's cell number too.  It was 4pm on a Friday.  Brian called me just as I got off the phone and I shouldn't have answered, but I did.  I burst out crying the second I said "hello."  Poor guy had to drive all the way home after just hearing the news.

I started researching, reading.  I was actually less concerned about the younger stages and mostly concerned about adulthood.  I focused on stories about the adults.  I'm going to be honest and say that I was very scared.  Most of the stories talked about adults who had been in and out of hospitals as a child and parents who never knew if their children would live through each hospitalization.  I had to ask myself if I wanted that for my family.  Could I do that to Brady? He's so young and I had to think about his future too.  We spoke with the genetics counselor again and we were told all our options.  To us, none of them sounded so great.  You may disagree with this, but I'm going to be completely honest again and tell you that we truly did consider all of our options.  To us, it was the responsible thing to do. I want to note that we did plan this pregnancy.  Although, we weren't quite expecting it to happen so fast, we wanted another baby and we wanted our children to be close in age.

We couldn't decide.  It was too hard.  I continued reading stories.  I started reading stories about children now.  I realized that these children are not in and out of the hospital and are not fighting to live every second of every day.  They are living!  They are happy and they are healthy.  Sure, they may have needed heart surgery as a baby and may need therapists to come and help them out, but it was nothing compared to the stories that played out in my head.  Most of these children were not going to the hospital every couple of months.  I was confused on how it could be so different.  I read more and realized how much help there is out there now.  Medical advances, Early Childhood Intervention programs, extra doctors visits meant they could fix any problems before they really became problems.  Everywhere I looked I saw stories of ACCEPTANCE, HAPPINESS, and PRIDE.  I started to feel happy and normal again.  I learned to accept the diagnosis and to be happy and proud.  It was no sudden turning point.  It was just a gradual process over 3-4 weeks.  Maybe it did help a little that my nausea had gone away, but most of it was all the stories I read.  Do you know what turned everything around for me?

BLOGS!

All of you out there blogging about your babies and children with Down syndrome, THANK YOU!  I read a lot, lot, lot of blogs.  I told Brian everything I read and he liked what he was hearing too.  One day I will have to start putting links up of my favorite blogs, but for now I will just remind everyone about 31 for 21.  This is my second post for 31 for 21 and I really hope that maybe my story can one day help someone get to where I am.  I still have hard days and I still get scared about the future, but isn't that just a normal part of parenting?  Yes, I think it is. Mostly, I'm excited.  I can't wait to hold my little girl in my arms.  I can't wait to introduce her to her family.

I wanted to end my post with a picture of my 16 mo, Brady, feeding himself his yogurt this morning and an ultrasound of Ada at 20 weeks.