Heart

We went to the Pediatric Cardiologist in Syracuse for a fetal echocardiogram, which is basically an ultrasound looking at every angle of the heart to look for defects.  50% of children with Down syndrome have a heart defect.  We were told by the Perinatal specialist that they thought the heart looked good so we were expecting good news.  Unfortunately, that was not the case.

Katie has a hole in her heart between the two ventricles; this condition is called Ventricular Septal Defect or VSD.  This is the most common heart problem with Down syndrome.  Of course, Katie was angled with her back to the ultrasound so the bones of her spine were casting shadows on the heart.  As a result, the doctors are not sure how big the hole is or if it extends in the atria as well.  If the hole is between all four chambers it will then be Atrioventricular Septal Defect or AVSD, which is also common with Down syndrome.  

Obviously the smaller the hole the better the scenario.  However, even in the worst case the doctors can fix it.  If it is AVSD, she may be weak, have some trouble feeding and growing.  At 4-6 months she will have open heart surgery to repair the defect, perhaps even younger if she is struggling.  If it is a moderate or large hole but only in the ventricles (VSD), she will still need open heart surgery at around 6 months.  If it is a small VSD hole, then the doctors will watch closely and hopefully the hole will close on its own.

Both AVSD and VSD surgeries are very successful.  The survival rate is very high 98-99%, and the complication rate is only 1%.  If the surgery goes well, the blood flow will return to normal and she will have no restrictions on her activities.  If she has trouble growing, she should catch up in 1 to 2 years.  The surgery is a lifetime fix and she will not need any additional surgeries later in life.  There is another heart problem with Down syndrome which would have made the VSD situation much worse, and she does NOT have that complication, phew!  

We have an appointment scheduled for a month from now.  Katie will have another fetal echocardiogram and hopefully she will cooperate for the doctors to determine the size of the hole and if it is AVSD or only VSD.  Regardless of the results, Katie and I will be spending a lot of time with the Pediatric Cardiologists throughout her first year of life.

To sum up our feelings Mike and I both felt disappointed but not surprised.  Since this is such a common problem with Down syndrome, if there was going to be any additional complications it would most likely be this.  Mostly we just feel sorry for our little girl.  It will be a difficult start for her and we are sad that she will have to face major surgery at such a young age.  We are feeling amazingly well after this news.  We know there is nothing we can do to fix it and worrying will not help.  We know what we are facing and will trust the doctors to fix it.  God bless the doctors! 

Ellee

I wanted to introduce Ellee.  She is a wonderful girl, amazing daughter, and will be a great big sister.  We are truly blessed to have her in our lives.  She brings us great joy.  

She is 2.5 years old.  She is always willing to try new things.  She loves to read, do puzzles, play games, collect things outside (mostly rocks and pinecones), ride her bicycle, play at the park (specifically climb ropes), do science experiments (anything where she is not sure of the outcome) and watch TV with her Daddy.  

She also has great compassion.  She always notices when someone is crying or upset and always feels the need to help or comfort through hugs and pats.  She even offers her prized blanket to anyone that she feels might need it.

I think the story and picture below sums up what a great sister she will be.  I was reading an information booklet about Down syndrome while Ellee was playing.  She asked me what I was doing and I told her I was reading about Katie.  A few hours later she climbed on the couch with the booklet and flipped through the pages pointing to all the pictures and saying “Cute baby!”  When I asked her what she was doing she said “I need to read about Katie”. 

18 week, fun

I’m in the mood for some fun things!

Here is Katie at 18 weeks, relaxing with her feet up.

Here I am with Katie and Ellee at 18 weeks.

Here is big sister, Ellee, making plans.

Anatomy Ultrasound

Mike and I went to the big ultrasound yesterday. It was the anatomy scan that typically happens for most pregnancies at 20 weeks. They did ours a little early at 18 weeks. Syracuse handled the ultrasound because they have better equipment than our local doctor and they specialize in high risk pregnancies.

Generally it was very good news. We have to keep in mind that Katie does have Down syndrome and as a result she will be different than typical babies. So, here is the news.

Great News:

1. Spine looks normal
2. Intestines look normal 
3. Stomach looks normal 
4. Kidneys look normal 
5. Bladder looks normal 
6. She is swallowing 
7. Arms, hands, feet look normal

Cautiously optimistic news:

1. The heart looked good. They did not see any indications of the two big heart problems associated with Down syndrome. They still want us to go to the fetal heart specialists in two weeks. Since they are heart specialists and have specialist equipment, they might find something (such as small holes), but all indications look good for a great visit with them.
2. The femur bones (leg) measured a little small, but children with Down syndrome are generally smaller in stature, so this is not a surprise or concern.

Okay news but we will continue to monitor:

1. The fluid in the neck has not gone away (not great news), but it has not started to spread through the body either (great news). This does happen with some babies with Down syndrome, and needs to be monitored because there is a very small chance it could start spreading and be fatal. The fact that it hasn’t already started to spread makes them think it will not, but of course, they won’t make promises and want to wait and see.
2. The umbilical cord typically has three vessels and Katie’s only has two. This is associated with Down syndrome, but also happens in 1 per 100 ‘normal’ pregnancies too. It probably will be perfectly fine, but needs to be monitored because there is a small chance Katie will not get enough nourishment in the third trimester and not grow enough. I think of it like having two kidneys (one is extra) you can lose one and be fine but if something happens to the remaining one it is not good. 
3. There are fluid filled spaces in the brain (ventricles) that are supposed to be a certain size. Katie’s are on the higher side of normal, which is associated with Down syndrome. She is still in the normal range, but there is a 1% chance they will continue to grow. If they continue to get bigger she will need to have a shunt put in her brain at birth to drain the fluid.

If we didn’t already know that Katie had Down syndrome and we had this scan they would have seen the neck fluid, umbilical cord, and brain fluid and suggested to us that she probably should be tested for Down syndrome. Since we already know that she does have Down syndrome, these findings are what would be expected, and are ‘normal for Down syndrome’.

We left the appointment with them telling us that she is a healthy baby with Down syndrome (so far). We already had been told that babies with Down syndrome are high risk for miscarriage throughout the pregnancy and if these things advance (which they probably will not) we may have some trouble down the line, but for now we are looking healthy. The fact that so many organs look good now makes it very unlikely that there will be problems with them later, but of course, they are not going to make promises and will continue to watch everything.

Perhaps the most encouraging news is the Syracuse doctors do not want to see us for 10 weeks! Next on the list is our fetal heart appointment in about a week and a half. After that, there is nothing other than routine pregnancy checks until I reach 28 weeks for our next ultrasound!